Periventricular Nodular Heterotopia 6; Pvnh6

Table of contents:

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

Genes related to Periventricular Nodular Heterotopia 6; Pvnh6

ERMARD

View recommended genes panels

Clinical Features

Phenotypes and symptoms related to Periventricular Nodular Heterotopia 6; Pvnh6

Seizures
Global developmental delay
Strabismus
Delayed speech and language development
Hypsarrhythmia
Heterotopia

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.

Periventricular Nodular Heterotopia 6; Pvnh6 Recommended genes panels

Panel Name, Specifity and genes Tested/covered
Cerebral Cortical Malformation Sequencing Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...) View the complete list with 34 more genes Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN Specificity 2 % Genes 100 %
Cerebral Cortical Malformations Deletion/Duplication Panel. By Genetic Services Laboratory University of Chicago (United States). SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2 , (...) View the complete list with 34 more genes Panel complete gene list SNAP29, TUBA8, TUBB2A, TUBG1, VLDLR, ACTB, RAB18, ACTG1, B3GNT2, B4GAT1, CCND2, ARFGEF2, TBC1D20, RAB3GAP1, RAB3GAP2, NDE1, CDK5, FKRP, ARX, ATP6V0A2, RTTN, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, GMPPB, KIF1BP, WDR62, SRD5A3, POMGNT2, POMK, DCX, B3GALNT2, GPSM2, DYNC1H1, TUBB2B, FKTN, FLNA, AKT3, ADGRG1, KATNB1, KIF2A, KIF5C, LAMA2, LAMC3, LARGE1, ASNS, OCLN, PAFAH1B1, POMT1, RELN Specificity 2 % Genes 100 %
Periventricular nodular heterotopia (NGS panel of 8 genes). By CGC Genetics (Portugal). DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L Specificity 13 % Genes 100 %
Periventricular nodular heterotopia (NGS panel of 8 genes). By CGC Genetics (Portugal). DCHS1, ARFGEF2, ERMARD, FAT4, FLNA, FMR1, LRP2, NEDD4L Specificity 13 % Genes 100 %
C6orf70. By Amplexa Genetics Amplexa Genetics A/S (Denmark). ERMARD Specificity 100 % Genes 100 %
Brain malformations. By Asper Biogene Asper Biogene LLC (Estonia). STIL, SLC12A6, SNAP29, TCF4, CEP41, TUBB2A, TUBG1, VLDLR, VRK1, ACTB, RXYLT1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, B4GAT1, CCND2 , (...) View the complete list with 125 more genes Panel complete gene list STIL, SLC12A6, SNAP29, TCF4, CEP41, TUBB2A, TUBG1, VLDLR, VRK1, ACTB, RXYLT1, RAB18, ACTG1, SLC25A19, TMEM237, ZEB2, CASK, TSEN34, B4GAT1, CCND2, ARFGEF2, PCNT, TBC1D20, ZNF423, CLP1, RAB3GAP1, RAB3GAP2, CENPJ, NDE1, EXOSC3, FKRP, ARX, TUBGCP6, ATP6V0A2, IER3IP1, RTTN, CDK5RAP2, ASPM, POMGNT1, POMT2, TUBA1A, TUBB3, TUBB4A, TUBB, ERMARD, PDHX, RARS2, INPP5E, AHI1, GMPPB, PEX26, FAT4, KIF1BP, CREBBP, KNL1, B9D1, WDR62, TCTN3, TMEM216, ARL13B, CUL4B, TTC21B, OFD1, NHEJ1, TCTN2, CPLANE1, SRD5A3, CEP63, POMGNT2, TCTN1, POMK, PIEZO2, TMEM138, DCX, TSEN54, TMEM67, TSEN2, DHCR24, B3GALNT2, DHCR7, DLAT, DLD, WASHC5, CEP290, CEP135, RPGRIP1L, CC2D2A, CEP152, GPSM2, DYNC1H1, KIF7, SEPSECS, SRPX2, TUBB2B, EFTUD2, ETFA, ETFB, ETFDH, FKTN, TMEM231, ISPD, FLNA, AKT3, GCSH, GLDC, ADGRG1, AMPD2, AMT, AP4M1, KIF2A, KIF5C, KIF11, LAMA2, LAMB1, LAMC3, LARGE1, MCPH1, MECP2, MKS1, NBN, NPHP1, OCLN, OPHN1, PAFAH1B1, CHMP1A, PDHA1, PDHB, ATR, PEX1, PEX10, PEX12, PEX13, PEX14, PEX16, PEX3, ATRX, PIK3R2, PNKP, POMT1, PDP1, PQBP1, PEX19, PEX2, PEX5, RELN Specificity 1 % Genes 100 %
ERMARD. By Fulgent Genetics Fulgent Genetics (United States). ERMARD Specificity 100 % Genes 100 %

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Sources and references

You can check the following sources for additional information.

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