Holoprosencephaly 5; Hpe5

Table of contents:

Description
Related genes
Clinical Features
Incidence and onset information
Alternative Names
Researches and researchers
Gene Panels
Sources and references

Description

Holoprosencephaly associated with mutations in the ZIC2 gene.

Genes related to Holoprosencephaly 5; Hpe5

ZIC2

View recommended genes panels

Clinical Features

Top most frequent phenotypes and symptoms related to Holoprosencephaly 5; Hpe5

Intellectual disability
Global developmental delay
Microcephaly
Hypertelorism
Abnormal facial shape
Cleft palate
Ptosis
High palate
Depressed nasal bridge
Macrocephaly

And another 31 symptoms. If you need more information about this disease we can help you.

Click here to know more about Mendelian.

Incidence and onset information

— Currently we don't have prevalence information about this disease (Not enough data available about incidence and published cases.)
— No data available about the known clinical features onset.

Researches and researchers

Currently, we don't have any information about doctors, researches or researchers related to this disease. Please contact us if you would like to appear here.

Holoprosencephaly 5; Hpe5 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
NGS Epilepsy/Seizure Panel. By Greenwood Genetic Center Diagnostic Laboratories Greenwood Genetic Center (United States). SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1 , (...) View the complete list with 124 more genes Panel complete gene list SCN1A, SCN1B, SCN2A, SCN5A, SCN8A, SCN9A, SHH, ST3GAL3, ST3GAL5, STIL, SIX3, SLC2A1, SLC35A2, SLC9A6, SNAP25, SPTAN1, CDKL5, STXBP1, SYN1, SYNGAP1, SYNJ1, TCF4, TGIF1, TSC1, TSC2, TUBB2A, UBE3A, ZIC2, CNTNAP2, CACNA1A, CACNA2D1, CACNB4, PCDH19, SLC25A19, ARHGEF9, ZEB2, CASK, CASR, TSEN34, VANGL1, ARFGEF2, PLCB1, PCNT, EFHC1, LIAS, SCARB2, PRICKLE1, CDON, CENPJ, NDE1, EXOSC3, ARX, PHF6, ATP6AP2, DEPDC5, CDK5RAP2, KCNT1, MAGI2, ASPM, NALCN, CHD2, DOCK7, CHRNA2, CHRNA4, CHRNB2, SLC25A22, FLVCR2, CLCN2, PRICKLE2, MBD5, TPP1, CLN3, CLN5, CLN6, CLN8, NHLRC1, KCTD7, ABAT, SLC13A5, WDR62, NECAP1, KANSL1, CSTB, CTSD, DCX, TSEN54, TSEN2, MFSD8, SZT2, IQSEC2, ADSL, TBC1D24, CEP152, PNPO, PRRT2, DYRK1A, EMX2, EPM2A, FLNA, FOLR1, FOXG1, FOXH1, MTOR, ABCB1, GABRA1, GABRB3, GABRD, GABRG2, GAMT, GATM, GLI2, GOSR2, ADGRG1, GRIN1, GRIN2A, GRIN2B, HNRNPU, KCNA1, KCNAB1, KCNJ10, KCNJ11, KCNQ2, KCNQ3, LGI1, MCPH1, MECP2, MEF2C, MTHFR, NDUFA1, NEDD4L, NODAL, ATP1A2, NRXN1, OPHN1, PAFAH1B1, ALDH7A1, ATR, PIGA, PNKP, POLG, PPT1, PTCH1, QARS, RELN Specificity 1 % Genes 100 %
Comprehensive Brain Malformation Panel. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19 , (...) View the complete list with 86 more genes Panel complete gene list SHH, STIL, SIX3, SLC9A6, SOX2, CDKL5, TGIF1, MED12, CEP41, TUBA8, UBE3A, VLDLR, VRK1, ZIC2, ACTB, MRPS16, NSD1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, ARFGEF2, PCNT, RAB3GAP1, CDON, RAB3GAP2, CENPJ, EXOSC3, FKRP, ARX, PHF6, IER3IP1, CDK5RAP2, ASPM, POMGNT1, DISP1, POMT2, UPF3B, TUBA1A, TUBB3, RARS2, AHI1, COL4A1, KIF1BP, WDR62, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, TCTN2, CPLANE1, TCTN1, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR7, NIPBL, CEP290, DLL1, RPGRIP1L, CC2D2A, CEP152, KIF7, SRPX2, TUBB2B, EMX2, EOMES, EZH2, FKTN, FGF8, FLNA, FOXG1, FOXH1, GAS1, GLI2, GLI3, ADGRG1, HESX1, L1CAM, LAMC3, LARGE1, MCPH1, MECP2, MKS1, MYCN, NFIX, NODAL, NPHP1, OPHN1, OTX2, PAFAH1B1, ATR, ATRX, PIK3CA, POMT1, PQBP1, PTCH1, PTEN, RBBP8, RELN Specificity 1 % Genes 100 %
Holoprosencephaly. By Knight Diagnostic Laboratories - Molecular Diagnostic Center Oregon Health & Science University (United States). SHH, SIX3, TGIF1, ZIC2, CDON, DISP1, DLL1, FGF8, FOXH1, GAS1, GLI2, NODAL, PTCH1 Specificity 8 % Genes 100 %
Holoprosencephaly Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1 Specificity 10 % Genes 100 %
Holoprosencephaly Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SHH, STIL, SIX3, TGIF1, ZIC2, CDON, FGF8, FGFR1, GLI2, PTCH1 Specificity 10 % Genes 100 %
Holoprosencephaly Panel, Sequencing and Deletion/Duplication. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SHH, SIX3, TGIF1, ZIC2, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1 Specificity 10 % Genes 100 %
Holoprosencephaly Panel, Sequencing and Deletion/Duplication, Fetal. By ARUP Laboratories, Molecular Genetics and Genomics (United States). SHH, SIX3, TGIF1, ZIC2, DISP1, FGF8, FOXH1, GLI2, NODAL, PTCH1 Specificity 10 % Genes 100 %
ZIC2. Complete sequencing. By Instituto de Medicina Genomica Instituto de Medicina Genomica (Spain). ZIC2 Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

OMIM MESH Rare Disease Search Engine

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