SCN2A

sodium voltage-gated channel alpha subunit 2
OMIM: 182390, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Red SCN2A in White matter disorders and cerebral calcification - narrow panel Version 3.35 Latest signed off version: v3.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Phenotypes Epileptic encephalopathy, early infantile, 11 Seizures, benign familial infantile, 3
Green SCN2A in Ataxia and cerebellar anomalies - narrow panel Version 4.64 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Expert list Phenotypes Episodic ataxia, type 9, MIM# 618924, MONDO:0030064 Developmental and epileptic encephalopathy 11, MIM# 613721, MONDO:0013388
Green SCN2A in Autism Version 0.36	review	Not set	Sources Expert Review Green SFARI Phenotypes EP, ASD, DD/NDD, EPS, ADHD, ID
Red SCN2A in Intracerebral calcification disorders Level 3: Parenchymal brain disorders Level 2: Neurology and neurodevelopmental disorders Version 1.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes Epileptic encephalopathy, early infantile, 11 Seizures, benign familial infantile, 3
Green SCN2A in Fetal anomalies Version 3.169 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green PAGE DD-Gene2Phenotype Phenotypes NONSPECIFIC SEVERE ID INFANTILE EPILEPTIC ENCEPHALOPATHY BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES
Green SCN2A in DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes NONSPECIFIC SEVERE ID BENIGN FAMILIAL NEONATAL INFANTILE SEIZURES 248968 INFANTILE EPILEPTIC ENCEPHALOPATHY
Green SCN2A in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.196 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green Phenotypes Epileptic encephalopathy, early infantile, 11 613721 Seizures, benign familial infantile, 3 607745
Green SCN2A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Seizures, benign familial infantile, 3, 607745Epileptic encephalopathy, early infantile, 11, 613721 NONSPECIFIC SEVERE ID
Green SCN2A in Severe Paediatric Disorders Version 1.184	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Epileptic encephalopathy, early infantile, 11, 613721 Seizures, benign familial infantile, 3, 607745