WDR19 gene related symptoms and diseases
All the information presented here about the WDR19 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: ORPHANET,NCBIGENE,OMIM,HGNC, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to WDR19 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nephronophthisis | Common - Between 50% and 80% cases |
| Narrow chest | Common - Between 50% and 80% cases |
| Brachydactyly | Common - Between 50% and 80% cases |
| Renal insufficiency | Common - Between 50% and 80% cases |
| Stage 5 chronic kidney disease | Common - Between 50% and 80% cases |
Other less frequent symptoms and clinical features
Patients with WDR19 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Limb undergrowth
- Abnormality of the skeletal system
- Nephropathy
- Frontal bossing
- Renal hypoplasia
- Short ribs
- Elevated serum creatinine
- Full cheeks
And 239 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to WDR19 gene
Here you will find a list of rare diseases related to the WDR19. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
JEUNE SYNDROME
Alternate names
JEUNE SYNDROME Is also known as asphyxiating thoracic dystrophy of the newborn, jatd, jeune asphyxiating thoracic dystrophy
Description
Jeune syndrome, also called asphyxiating thoracic dystrophy, is a short-rib dysplasia characterized by a narrow thorax, short limbs and radiological skeletal abnormalities including "trident" aspect of the acetabula and metaphyseal changes.
Most common symptoms of JEUNE SYNDROME
- Short stature
- Brachydactyly
- Respiratory insufficiency
- Renal insufficiency
- Skeletal dysplasia
More info about JEUNE SYNDROME
SOURCES: ORPHANET
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5
Alternate names
SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5 Is also known as atd5, asphyxiating thoracic dystrophy 5
Description
Short-rib thoracic dysplasia (SRTD) with or without polydactyly refers to a group of autosomal recessive skeletal ciliopathies that are characterized by a constricted thoracic cage, short ribs, shortened tubular bones, and a 'trident' appearance of the acetabular roof. SRTD encompasses Ellis-van Creveld syndrome (EVC) and the disorders previously designated as Jeune syndrome or asphyxiating thoracic dystrophy (ATD), short rib-polydactyly syndrome (SRPS), and Mainzer-Saldino syndrome (MZSDS). Polydactyly is variably present, and there is phenotypic overlap in the various forms of SRTDs, which differ by visceral malformation and metaphyseal appearance. Nonskeletal involvement can include cleft lip/palate as well as anomalies of major organs such as the brain, eye, heart, kidneys, liver, pancreas, intestines, and genitalia. Some forms of SRTD are lethal in the neonatal period due to respiratory insufficiency secondary to a severely restricted thoracic cage, whereas others are compatible with life (summary by Huber and Cormier-Daire, 2012 and Schmidts et al., 2013).There is phenotypic overlap with the cranioectodermal dysplasias (Sensenbrenner syndrome; see CED1, {218330}).For a discussion of genetic heterogeneity of short-rib thoracic dysplasia, see SRTD1 (OMIM ).
Most common symptoms of SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5
- Growth delay
- Cataract
- Hypertension
- Brachydactyly
- Myopia
More info about SHORT-RIB THORACIC DYSPLASIA 5 WITH OR WITHOUT POLYDACTYLY; SRTD5
SOURCES: OMIM
JUVENILE NEPHRONOPHTHISIS
NEPHRONOPHTHISIS 13; NPHP13
Most common symptoms of NEPHRONOPHTHISIS 13; NPHP13
- Growth delay
- Abnormality of the skeletal system
- Renal insufficiency
- Dilatation
- Polydactyly
More info about NEPHRONOPHTHISIS 13; NPHP13
SOURCES: OMIM
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE
Alternate names
SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE Is also known as short rib syndrome, beemer type, srps iv, short rib-polydactyly syndrome type 4, short rib-polydactyly syndrome, type iv, beemer-langer syndrome, srps4
Description
Short rib-polydactyly syndrome (SRPS), Beemer-Langer type is an extremely rare type of SRPS developing prenatally or immediately after birth and characterized by short and narrow thorax with horizontally oriented ribs. Other bone features include small iliac bones, short tubular bones, bowing of long bones and rarely pre- and post-axial polydactyly. Brain defects are common and some cases of cleft lip, absent internal genitalia and renal, biliary and pancreatic cysts have been reported. The course is rapidly fatal.
Most common symptoms of SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE
- Hypertelorism
- Abnormal facial shape
- Cleft palate
- Low-set ears
- Epicanthus
More info about SHORT RIB-POLYDACTYLY SYNDROME, BEEMER-LANGER TYPE
SENIOR-LOKEN SYNDROME
Alternate names
SENIOR-LOKEN SYNDROME Is also known as renal-retinal syndrome, juvenile nephronophthisis with leber amaurosis, loken-senior syndrome, renal dysplasia-retinal aplasia syndrome, nephronophthisis with retinal dystrophy, slsn, renal dysplasia and retinal aplasia, senior-loken syndrome
Description
Senior-Loken syndrome (SLSN) is a very rare autosomal recessive oculo-renal disease characterized by the association of nephronophthisis (NPHP), a chronic kidney disease, with retinal dystrophy.
Most common symptoms of SENIOR-LOKEN SYNDROME
- Intellectual disability
- Global developmental delay
- Short stature
- Hearing impairment
- Ataxia
More info about SENIOR-LOKEN SYNDROME
CRANIOECTODERMAL DYSPLASIA
Alternate names
CRANIOECTODERMAL DYSPLASIA Is also known as levin syndrome i, sensenbrenner syndrome, ced
Description
Cranioectodermal dysplasia (CED) is a rare developmental disorder characterized by congenital skeletal and ectodermal defects associated with dysmorphic features, nephronophthisis, hepatic fibrosis and ocular anomalies (mainly retinitis pigmentosa).
Most common symptoms of CRANIOECTODERMAL DYSPLASIA
- Global developmental delay
- Generalized hypotonia
- Microcephaly
- Growth delay
- Nystagmus
More info about CRANIOECTODERMAL DYSPLASIA
CRANIOECTODERMAL DYSPLASIA 4; CED4
Description
Cranioectodermal dysplasia (CED), also known as Sensenbrenner syndrome, is a rare autosomal recessive heterogeneous ciliopathy that is primarily characterized by skeletal abnormalities, including craniosynostosis, narrow rib cage, short limbs, and brachydactyly, and ectodermal defects. Nephronophthisis leading to progressive renal failure, hepatic fibrosis, heart defects, and retinitis pigmentosa have also been described (summary by Arts et al., 2011).For a discussion of genetic heterogeneity of cranioectodermal dysplasia, see CED1 (OMIM ).
Most common symptoms of CRANIOECTODERMAL DYSPLASIA 4; CED4
- Short stature
- Generalized hypotonia
- Hypertension
- Brachydactyly
- Frontal bossing
More info about CRANIOECTODERMAL DYSPLASIA 4; CED4
SOURCES: OMIM
SENIOR-LOKEN SYNDROME 8; SLSN8
Most common symptoms of SENIOR-LOKEN SYNDROME 8; SLSN8
- Cognitive impairment
- Dilatation
- Rod-cone dystrophy
- Reduced visual acuity
- Pallor
More info about SENIOR-LOKEN SYNDROME 8; SLSN8
SOURCES: OMIM
Search interest in WDR19
Potential gene panels for WDR19 gene
Retinitis Pigmentosa Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR SAG SEMA4A
More info about this panel United States.
Ciliopathies Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Ciliopathies that also includes the following genes: RPE65 RPGR SDCCAG8 TSC1 TSC2 CEP41 TULP1 USH1C USH2A CLRN1
More info about this panel United States.
Craniosynostosis Panel
United States.
By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University Craniosynostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 ASXL1 WDR19 WDR35 IFT43
More info about this panel United States.
Nephronophthisis Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Deletion/Duplication Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Renal Cystic Disorders Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Renal Cystic Disorders Sequencing Panel that also includes the following genes: SALL1 SDCCAG8 HNF1B TFAP2A TSC1 TSC2 CEP41 UMOD VHL ARL6
More info about this panel United States.
Nephronophthisis Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Nephronophthisis Sequencing Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Craniofacial Sequencing Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Sequencing Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Craniofacial Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Craniofacial Deletion/Duplication Panel that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 ALX1
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal Panel
United States.
By ARUP Laboratories, Molecular Genetics and Genomics Skeletal Dysplasia Panel, Sequencing and Deletion/Duplication, Fetal that also includes the following genes: RUNX2 SLC26A2 SOX9 TRIP11 SERPINH1 TRPV4 FKBP10 WDR19 P3H1 EVC2
More info about this panel United States.
Craniosynostosis Panel
United States.
By Human Genetics Laboratory, Munroe-Meyer Institute University of Nebraska Medical Center Craniosynostosis that also includes the following genes: RUNX2 SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45
More info about this panel United States.
WDR19. Complete sequencing Panel
Spain.
By Instituto de Medicina Genomica Instituto de Medicina Genomica
This panel specifically test the WDR19 gene.
More info about this panel Spain.
Craniofacial Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq + Del/Dup Panel Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq + Del/Dup Panel that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Craniofacial Seq Analysis Panel
United States.
By Division of Genomic Diagnostics The Children's Hospital of Philadelphia Craniofacial Seq Analysis that also includes the following genes: RUNX2 SALL1 SF3B4 SIX1 SIX5 SKI SNRPB TCF12 TCOF1 TWIST1
More info about this panel United States.
Asphyxiating thoracic dystrophy 5 (sequence analysis of WDR19 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the WDR19 gene.
More info about this panel Portugal.
Craniosynostosis (NGS panel for 30 genes) Panel
Portugal.
By CGC Genetics Craniosynostosis (NGS panel for 30 genes) that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 IRX5 TMCO1
More info about this panel Portugal.
Nephronophthisis (NGS panel for 19 genes) Panel
Portugal.
By CGC Genetics Nephronophthisis (NGS panel for 19 genes) that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel Portugal.
Ciliopathies (NGS panel for 90 genes) Panel
Portugal.
By CGC Genetics Ciliopathies (NGS panel for 90 genes) that also includes the following genes: SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 TMEM237 TRIM32 NME8
More info about this panel Portugal.
Ellis Van Creveld syndrome (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Ellis Van Creveld syndrome (NGS panel for 12 genes) that also includes the following genes: WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1 IFT172
More info about this panel Portugal.
Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) Panel
Portugal.
By CGC Genetics Short-rib thoracic dysplasia, with or without polydactyly (NGS panel for 16 genes) that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B CSPP1 CEP120 WDR34 IFT140 WDR35
More info about this panel Portugal.
Cranioectodermal dysplasia (NGS panel for 4 genes) Panel
Portugal.
By CGC Genetics Cranioectodermal dysplasia (NGS panel for 4 genes) that also includes the following genes: IFT122 WDR19 WDR35 IFT43
More info about this panel Portugal.
Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Nephronophthisis and Senior-Loken Syndrome Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel United States.
Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Short Rib Skeletal Dysplasia Sequencing Panel with CNV Detection that also includes the following genes: SLC26A2 SOX9 IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B WDR34 IFT140
More info about this panel United States.
Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Comprehensive Inherited Retinal Dystrophies (includes RPGR ORF15) Sequencing Panel with CNV Detection that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
Ciliopathy Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Ciliopathy Sequencing Panel with CNV Detection that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 ZIC3 CFAP298 ARL6 NEK8 TMEM237
More info about this panel United States.
Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hereditary Cystic Kidney Diseases Sequencing Panel with CNV Detection that also includes the following genes: SDCCAG8 HNF1B TSC1 TSC2 UMOD VHL NEK8 DNAJB11 ZNF423 DICER1
More info about this panel United States.
Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Skeletal Disorders and Joint Problems Sequencing Panel with CNV Detection that also includes the following genes: RMRP ROR2 RUNX2 SALL1 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 FBXW4
More info about this panel United States.
Craniosynostosis Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Deletion / Duplication panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis Comprehensive panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Craniosynostosis NGS panel Panel
United States.
By Connective Tissue Gene Tests Craniosynostosis NGS panel that also includes the following genes: SKI TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23 CDC45 WDR19
More info about this panel United States.
Skeletal dysplasia ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Deletion / Duplication panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panel United States.
Skeletal dysplasia ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy NGS panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panel United States.
Skeletal dysplasia ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia ciliopathy Comprehensive panel that also includes the following genes: CFAP410 IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 DYNC2LI1 TTC21B CEP120
More info about this panel United States.
Nephronophthisis and related disorders NGS panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders NGS panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Comprehensive panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Nephronophthisis and related disorders Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Nephronophthisis and related disorders Deletion / Duplication panel that also includes the following genes: SDCCAG8 CEP41 NEK8 ZNF423 TRAF3IP1 INVS CEP83 DCDC2 WDR19 NPHP4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Comprehensive panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Comprehensive panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy NGS panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy NGS panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel Panel
United States.
By Connective Tissue Gene Tests Skeletal dysplasia and skeletal ciliopathy Deletion / Duplication panel that also includes the following genes: RMRP SLC26A2 SOX9 TRIP11 CFAP410 NSDHL IFT122 IFT81 IFT52 TRPV4
More info about this panel United States.
Hereditary kidney disorders - different panels Panel
Germany.
By Institute of Human Genetics Uniklinik RWTH Aachen Hereditary kidney disorders - different panels that also includes the following genes: BCS1L ROBO2 CNNM2 CFB SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8
More info about this panel Germany.
Senior Loken Syndrome Panel Panel
Germany.
By CeGaT GmbH Senior Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164
More info about this panel Germany.
Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel Panel
Germany.
By CeGaT GmbH Ectodermal dysplasia (including hypotrichosis and hypoplastic hair) Panel that also includes the following genes: BCS1L SNRPE SOX18 ST14 TRPS1 IFT122 WNT10A EDARADD SHOC2 LPAR6
More info about this panel Germany.
Nephronophthisis Panel Panel
Germany.
By CeGaT GmbH Nephronophthisis Panel that also includes the following genes: NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 SLC41A1 TTC21B ANKS6
More info about this panel Germany.
Senior Loken Syndrome Panel Panel
Germany.
By CeGaT GmbH Senior Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164
More info about this panel Germany.
Senior-Loken Syndrome Panel Panel
Germany.
By CeGaT GmbH Senior-Loken Syndrome Panel that also includes the following genes: SDCCAG8 IFT81 ZNF423 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164
More info about this panel Germany.
Short-rib dysplasia Panel Panel
Germany.
By CeGaT GmbH Short-rib dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TTC21B WDR34 IFT140 WDR35 IFT80 DYNC2H1
More info about this panel Germany.
Craniosynostosis syndromes Panel Panel
Germany.
By CeGaT GmbH Craniosynostosis syndromes Panel that also includes the following genes: SKI TCF12 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43 EFNB1
More info about this panel Germany.
Skeletal Ciliopathies Panel
Estonia.
By Asper Biogene Asper Biogene LLC Skeletal Ciliopathies that also includes the following genes: IFT122 IFT52 WDR19 EVC2 KIAA0586 WDR60 COMP TCTN3 DYNC2LI1 TTC21B
More info about this panel Estonia.
Eye diseases comprehensive panel Panel
Estonia.
By Asper Biogene Asper Biogene LLC Eye diseases comprehensive panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel Estonia.
Senior-Loken Syndrome Panel
Estonia.
By Asper Biogene Asper Biogene LLC Senior-Loken Syndrome that also includes the following genes: SDCCAG8 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 NPHP1 NPHP3
More info about this panel Estonia.
Retinal Dystrophy Panel Panel
United States.
By Molecular Vision Laboratory Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
MVL Vision Panel Panel
United States.
By Molecular Vision Laboratory MVL Vision Panel that also includes the following genes: RGS9 RHO GRK1 RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR
More info about this panel United States.
qGenEx Craniofacial Anomalies Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qGenEx Craniofacial Anomalies that also includes the following genes: RUNX2 SALL1 TSHZ1 BMP4 SEMA3E SF3B4 SH3BP2 SHH SIX1 SIX3
More info about this panel Spain.
Invitae Senior-Loken Syndrome Panel Panel
United States.
By Invitae Invitae Senior-Loken Syndrome Panel that also includes the following genes: SDCCAG8 INVS WDR19 NPHP4 IQCB1 CEP290 NPHP1 NPHP3
More info about this panel United States.
Invitae Nephronophthisis Panel Panel
United States.
By Invitae Invitae Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 TMEM237 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 AHI1
More info about this panel United States.
Invitae Ciliopathies Panel Panel
United States.
By Invitae Invitae Ciliopathies Panel that also includes the following genes: RPGR SDCCAG8 SPAG1 CEP41 RSPH1 CFAP298 ARL6 NEK8 IFT122 TMEM237
More info about this panel United States.
Invitae Skeletal Ciliopathies Panel Panel
United States.
By Invitae Invitae Skeletal Ciliopathies Panel that also includes the following genes: IFT122 WDR19 EVC2 KIAA0586 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34
More info about this panel United States.
Craniosysostosis Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Craniosysostosis that also includes the following genes: SKI TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1 WDR35 IFT43
More info about this panel Spain.
Jeune asphyxiating thoracic dystrophy Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Jeune asphyxiating thoracic dystrophy that also includes the following genes: WDR19 TTC21B IFT80 DYNC2H1
More info about this panel Spain.
Ciliopathies: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Sequencing Panel that also includes the following genes: RPE65 RPGR ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 TSC1 TSC2 CEP41
More info about this panel United States.
Ciliopathies: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Ciliopathies: Deletion/Duplication Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TSC1 TSC2 TULP1 UMOD USH1C USH2A
More info about this panel United States.
Ciliopathies NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Ciliopathies NGS Panel that also includes the following genes: RPE65 RPGR ATXN10 SDCCAG8 TULP1 UMOD USH1C USH2A CLRN1 VHL
More info about this panel United States.
WDR19 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the WDR19 gene.
More info about this panel United States.
KidneySeq - 264 Genes Panel
United States.
By Iowa Institute of Human Genetics University of Iowa KidneySeq - 264 Genes that also includes the following genes: ROBO2 CNNM2 SALL1 ATXN10 SCNN1A SCNN1B SCNN1G SDCCAG8 BMP4 SEMA3E
More info about this panel United States.
Nephronophthisis Panel Panel
Finland.
By Blueprint Genetics Nephronophthisis Panel that also includes the following genes: SDCCAG8 NEK8 ZNF423 INVS CEP83 DCDC2 WDR19 NPHP4 TTC21B ANKS6
More info about this panel Finland.
Cystic Kidney Disease Panel Panel
Finland.
By Blueprint Genetics Cystic Kidney Disease Panel that also includes the following genes: SDCCAG8 SIX5 HNF1B TSC1 TSC2 UMOD VHL NEK8 ZNF423 INVS
More info about this panel Finland.
Retinal Dystrophy Panel Panel
Finland.
By Blueprint Genetics Retinal Dystrophy Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 CNNM4
More info about this panel Finland.
Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Short Rib Dysplasia / Asphyxiating Thoracic Dysplasia Panel that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 WDR34 IFT140 WDR35
More info about this panel Finland.
Retinitis Pigmentosa Panel Panel
Finland.
By Blueprint Genetics Retinitis Pigmentosa Panel that also includes the following genes: RHO RLBP1 ROM1 RP1 RP2 RPE65 RPGR RS1 SAG CWC27
More info about this panel Finland.
Craniosynostosis Panel Panel
Finland.
By Blueprint Genetics Craniosynostosis Panel that also includes the following genes: BMP4 SKI SOX10 TCF12 TGFBR1 TGFBR2 TWIST1 ZIC1 IFT122 RAB23
More info about this panel Finland.
Skeletal Dysplasias Core Panel Panel
Finland.
By Blueprint Genetics Skeletal Dysplasias Core Panel that also includes the following genes: RMRP ROR2 RUNX2 BMP1 BMPR1B SHOX SLC26A2 SMARCAL1 SOX9 TCIRG1
More info about this panel Finland.
Comprehensive Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Skeletal Dysplasias and Disorders Panel that also includes the following genes: RMRP ROR2 BGN RUNX2 BMP1 BMP2 BMPR1B SF3B4 SH3BP2 SHOX
More info about this panel Finland.
Ciliopathy Panel Panel
Finland.
By Blueprint Genetics Ciliopathy Panel that also includes the following genes: SDCCAG8 CEP41 CFAP410 USP9X ZIC3 ARL6 NEK8 IFT122 IFT81 TMEM237
More info about this panel Finland.
Micromelic Dysplasia Panel Panel
Finland.
By Blueprint Genetics Micromelic Dysplasia Panel that also includes the following genes: ROR2 BMPR1B SHOX SOX9 TRIP11 TRPS1 WNT5A ADAMTS10 IFT122 ADAMTSL2
More info about this panel Finland.
Congenital Hepatic Fibrosis Panel Panel
Finland.
By Blueprint Genetics Congenital Hepatic Fibrosis Panel that also includes the following genes: CEP41 ARL6 NEK8 TMEM237 TRIM32 ZNF423 INVS DCDC2 WDR19 BBS7
More info about this panel Finland.
Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel Panel
Finland.
By Blueprint Genetics Comprehensive Growth Disorders / Skeletal Dysplasias and Disorders Panel that also includes the following genes: RIT1 RMRP BCS1L ROR2 BGN RRAS RUNX2 BMP1 BMP2 SEC24D
More info about this panel Finland.
Jeune syndrome (type 5) Panel
Spain.
By Bioarray
This panel specifically test the WDR19 gene.
More info about this panel Spain.
JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) Panel
Spain.
By Laboratorio de Genetica Clinica SL JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) that also includes the following genes: WDR19 TTC21B IFT140 IFT80 DYNC2H1
More info about this panel Spain.
JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL JEUNE SYNDROME (ASPHYXIATING THORACIC DYSTROPHY) NGS PANEL that also includes the following genes: IFT122 WDR19 EVC2 WDR60 TCTN3 TTC21B CSPP1 CEP120 WDR34 IFT140
More info about this panel Spain.
CRANIOSYNOSTOSIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL CRANIOSYNOSTOSIS NGS PANEL that also includes the following genes: BMP4 SKI TCF12 TGFBR1 TGFBR2 TWIST1 IFT122 RAB23 WDR19 FREM1
More info about this panel Spain.
NEPHRONOPHTHISIS NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL NEPHRONOPHTHISIS NGS PANEL that also includes the following genes: SDCCAG8 ARL6 NEK8 ZNF423 INVS CEP83 WDR19 NPHP4 TTC21B ANKS6
More info about this panel Spain.
SENIOR-LOKEN SYNDROME NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL SENIOR-LOKEN SYNDROME NGS PANEL that also includes the following genes: SDCCAG8 TRAF3IP1 INVS WDR19 NPHP4 IQCB1 CEP290 CEP164 NPHP1 NPHP3
More info about this panel Spain.
Newborn Thoracic Dystrophy Type 5, Sequencing WDR19 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the WDR19 gene.
More info about this panel Spain.
Asphyxiating Thoracic Dystrophy , Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes Panel
Spain.
By Reference Laboratory Genetics Asphyxiating Thoracic Dystrophy , Panel Massive Sequencing (NGS) DYNC2H1,IFT80,TTC21B,WDR19 Genes that also includes the following genes: WDR19 TTC21B IFT80 DYNC2H1
More info about this panel Spain.
Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Senior-Loken Syndrome , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: SDCCAG8 TRAF3IP1 WDR19 NPHP4 IQCB1 CEP290 NPHP1
More info about this panel Spain.
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