SLC45A2 gene related symptoms and diseases
All the information presented here about the SLC45A2 gene and its related diseases, symptoms, and test panels has been aggregated from the following public sources: OMIM,HGNC,ORPHANET,NCBIGENE, Mendelian Rare Disease Search Engine.
Top 5 symptoms and clinical features associated to SLC45A2 gene
| Symptoms // Phenotype | % Cases |
|---|---|
| Nystagmus | Uncommon - Between 30% and 50% cases |
| Iris hypopigmentation | Uncommon - Between 30% and 50% cases |
| Macular hypoplasia | Uncommon - Between 30% and 50% cases |
| Squamous cell carcinoma of the skin | Uncommon - Between 30% and 50% cases |
| Hypopigmentation of the fundus | Uncommon - Between 30% and 50% cases |
Other less frequent symptoms and clinical features
Patients with SLC45A2 gene alterations may also develop some of the following symptoms and phenotypes:Not very common - Between 30% and 50% cases
- Abnormality of the optic nerve
- White hair
- Generalized hypopigmentation
- Blue irides
- Hypoplasia of the fovea
- Hypopigmentation of hair
- Strabismus
- Basal cell carcinoma
And 8 more phenotypes, you can get all of them using our tools for rare diseases.
Rare diseases associated to SLC45A2 gene
Here you will find a list of rare diseases related to the SLC45A2. You can also use our tool to get a more accurate diagnosis based on your current symptoms.
OCULOCUTANEOUS ALBINISM TYPE 4
Alternate names
OCULOCUTANEOUS ALBINISM TYPE 4 Is also known as oca4, oculocutaneous albinism, type iv
Description
Oculocutaneous albinism type 4 (OCA4) is a type of OCA (see this term) characterized by varying degrees of skin and hair hypopigmentation, numerous ocular changes and misrouting of the optic nerves at the chiasm.
Most common symptoms of OCULOCUTANEOUS ALBINISM TYPE 4
- Nystagmus
- Strabismus
- Visual impairment
- Reduced visual acuity
- Photophobia
More info about OCULOCUTANEOUS ALBINISM TYPE 4
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
Alternate names
SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5 Is also known as skin/hair/eye pigmentation 5, black/nonblack hair, skin/hair/eye pigmentation 5, dark/light eyes, skin/hair/eye pigmentation 5, dark/fair skin
Most common symptoms of SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
- Abnormality of the eye
More info about SKIN/HAIR/EYE PIGMENTATION, VARIATION IN, 5; SHEP5
SOURCES: OMIM
Search interest in SLC45A2
Potential gene panels for SLC45A2 gene
MitoMet®Plus aCGH Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories MitoMet®Plus aCGH Analysis that also includes the following genes: RGS9 RHO GRK1 RLBP1 RNASEL BCS1L RP1 RP2 RP9 RPE65
More info about this panel United States.
SLC45A2 Sequence Analysis Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC45A2 gene.
More info about this panel United States.
SLC45A2 Sequence Analysis (Familial Mutation/Variant Analysis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC45A2 gene.
More info about this panel United States.
SLC45A2 Sequence Analysis (Prenatal Diagnosis) Panel
United States.
By Baylor Miraca Genetics Laboratories
This panel specifically test the SLC45A2 gene.
More info about this panel United States.
Ocular Albinism and Hermansky Pudlak Panel Panel
United States.
By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center Ocular Albinism and Hermansky Pudlak Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
Oculocutaneous Albinism Type 4 - SLC45A2 Sequencing Panel
United States.
By Children's Hospital Colorado Molecular Genetics Laboratory Children's Hospital Colorado
This panel specifically test the SLC45A2 gene.
More info about this panel United States.
Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet Oculocutaneous albinism, Type 1, 2, 3, 4, 6, 7, NGS panel that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 LRMDA OCA2
More info about this panel Denmark.
Oculocutaneous albinism type 4 Panel
Denmark.
By Medical Genetics Laboratory, Kennedy Center Juliane Marie Center, Rigshospitalet
This panel specifically test the SLC45A2 gene.
More info about this panel Denmark.
Albinism sequencing panel Panel
United States.
By Genetic Services Laboratory University of Chicago Albinism sequencing panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
Albinism Deletion/Duplication Panel Panel
United States.
By Genetic Services Laboratory University of Chicago Albinism Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel United States.
SLC45A2 mutation analysis Panel
Netherlands.
By Laboratory of genome diagnostics Academic Medical Center, University of Amsterdam
This panel specifically test the SLC45A2 gene.
More info about this panel Netherlands.
Ocular albinism type IV (OCA4, sequence analysis of SLC45A2 gene) Panel
Portugal.
By CGC Genetics
This panel specifically test the SLC45A2 gene.
More info about this panel Portugal.
Albinism (NGS panel for 12 genes) Panel
Portugal.
By CGC Genetics Albinism (NGS panel for 12 genes) that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A
More info about this panel Portugal.
Oculocutaneous Albinism Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Oculocutaneous Albinism Sequencing Panel with CNV Detection that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF
More info about this panel United States.
Oculocutaneous Albinism Type 4 (OCAIV) via SLC45A2 Gene Sequencing with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics
This panel specifically test the SLC45A2 gene.
More info about this panel United States.
Hypopigmentation Sequencing Panel with CNV Detection Panel
United States.
By PreventionGenetics PreventionGenetics Hypopigmentation Sequencing Panel with CNV Detection that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
Eye Diseases - panels Panel
Germany.
By MGZ Medical Genetics Center Eye Diseases - panels that also includes the following genes: BFSP1 BFSP2 SALL2 BMP4 BMP7 SHH SIX3 SIX6 FOXL2 SOX2
More info about this panel Germany.
Ocular / Oculocutaneous Albinism Panel
Germany.
By MGZ Medical Genetics Center Ocular / Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA SLC38A8 FRMD7 OCA2
More info about this panel Germany.
Albinism oculocutaneous type IV Panel
Germany.
By Centogene AG - the Rare Disease Company
This panel specifically test the SLC45A2 gene.
More info about this panel Germany.
Albinism Panel
Germany.
By Centogene AG - the Rare Disease Company Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A
More info about this panel Germany.
Albinism Panel Panel
Germany.
By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R OCA2
More info about this panel Germany.
Albinism Panel Panel
Germany.
By CeGaT GmbH Albinism Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R OCA2
More info about this panel Germany.
Single gene testing SLC45A2 Panel
Germany.
By CeGaT GmbH
This panel specifically test the SLC45A2 gene.
More info about this panel Germany.
Oculocutaneous Albinism Panel
Estonia.
By Asper Biogene Asper Biogene LLC Oculocutaneous Albinism that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
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.
Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel Panel
United States.
By Molecular Vision Laboratory Hermansky-Pudlak Syndrome/Oculocutaneous Albinism/Pigmentation panel that also includes the following genes: SNAI2 SOX10 TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6
More info about this panel United States.
qCarrier Plus Panel
Spain.
By Quantitative Genomic Medicine Laboratories, SL qCarrier Plus that also includes the following genes: RMRP RP2 RPE65 RPGR RPS6KA3 RS1 SACS SGCA SGCB SGSH
More info about this panel Spain.
Albinism Panel
Spain.
By GENETAQ Molecular Genetics Centre and Diagnosis of Rare Diseases Albinism that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2
More info about this panel Spain.
Albinism: Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Albinism: Sequencing Panel that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA OCA2
More info about this panel United States.
Eye Disorders: Comprehensive Sequencing Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Comprehensive Sequencing Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Albinism: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Albinism: Deletion/Duplication Panel that also includes the following genes: TYR TYRP1 SLC45A2 GPR143 SLC24A5 LRMDA OCA2
More info about this panel United States.
Eye Disorders: Deletion/Duplication Panel Panel
United States.
By EGL Genetic Diagnostics Eurofins Clinical Diagnostics Eye Disorders: Deletion/Duplication Panel that also includes the following genes: RGS9 RHO RLBP1 ROM1 RP1 RP2 RP9 RPE65 RPGR RS1
More info about this panel United States.
Albinism NGS Panel Panel
United States.
By Fulgent Genetics Fulgent Genetics Albinism NGS Panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 MC1R MITF MYO5A OCA2 RAB27A
More info about this panel United States.
SLC45A2 Panel
United States.
By Fulgent Genetics Fulgent Genetics
This panel specifically test the SLC45A2 gene.
More info about this panel United States.
Albinism Panel Panel
Finland.
By Blueprint Genetics Albinism Panel that also includes the following genes: TYR TYRP1 HPS3 HPS4 SLC45A2 HPS5 DTNBP1 HPS6 LYST GPR143
More info about this panel Finland.
Comprehensive Hematology Panel Panel
Finland.
By Blueprint Genetics Comprehensive Hematology Panel that also includes the following genes: RHAG RIT1 RPL11 RPL15 RPL35A RPL5 RPS10 RPS19 RPS24 RPS26
More info about this panel Finland.
Hermansky-Pudlak Syndrome Panel Panel
Finland.
By Blueprint Genetics Hermansky-Pudlak Syndrome Panel that also includes the following genes: SFTPB SFTPC TERC TERT TINF2 TYR TYRP1 HPS3 HPS4 SLC45A2
More info about this panel Finland.
ALBINISM: NGS PANEL Panel
Spain.
By Laboratorio de Genetica Clinica SL ALBINISM: NGS PANEL that also includes the following genes: TYR TYRP1 SLC45A2 HPS6 LYST GPR143 SLC24A5 LRMDA MC1R MITF
More info about this panel Spain.
OCULOCUTANEOUS ALBINISM Panel
Spain.
By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 OCA2
More info about this panel Spain.
OCULOCUTANEOUS ALBINISM (OCA) Panel
Spain.
By Laboratorio de Genetica Clinica SL OCULOCUTANEOUS ALBINISM (OCA) that also includes the following genes: TYR TYRP1 SLC45A2 OCA2
More info about this panel Spain.
Albinisim panel Panel
Canada.
By LifeLabs Genetics Albinisim panel that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 LRMDA MC1R MITF MYO5A OCA2
More info about this panel Canada.
Oculocutaneous Albinism Type 4 , Sequencing SLC45A2 Gene Panel
Spain.
By Reference Laboratory Genetics
This panel specifically test the SLC45A2 gene.
More info about this panel Spain.
Albinism , Panel Massive Sequencing (NGS) 12 Genes Panel
Spain.
By Reference Laboratory Genetics Albinism , Panel Massive Sequencing (NGS) 12 Genes that also includes the following genes: TYR TYRP1 SLC45A2 LYST GPR143 SLC24A5 LRMDA MC1R MITF MYO5A
More info about this panel Spain.
Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes Panel
Spain.
By Reference Laboratory Genetics Oculocutaneous Albinism , Panel Massive Sequencing (NGS) 7 Genes that also includes the following genes: TYR TYRP1 SLC45A2 SLC24A5 LRMDA MC1R OCA2
More info about this panel Spain.
Oculocutaneous Albinism Type 4: gene sequencing Panel
Canada.
By CEN4GEN Institute for Genomics and Molecular Diagnostics
This panel specifically test the SLC45A2 gene.
More info about this panel Canada.
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