SCN8A

sodium voltage-gated channel alpha subunit 8
OMIM: 600702, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Green SCN8A in Brain channelopathy Level 3: Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Phenotypes Seizures, benign familial infantile, 5, OMIM:617080 Paroxysmal kinesigenic dyskinesias
Green SCN8A in Ataxia and cerebellar anomalies - narrow panel Version 4.63 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 Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558
Green SCN8A in Hereditary ataxia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.332	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Radboud University Medical Center, Nijmegen UKGTN Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558
Red SCN8A in Autism Version 0.36	review	Not set	Sources Expert Review Red SFARI
Amber SCN8A in Paroxysmal central nervous system disorders Version 3.10 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS London North GLH Wessex and West Midlands GLH Phenotypes Seizures, benign familial infantile, 5, OMIM:617080 Paroxysmal kinesigenic dyskinesias ?Myoclonus, familial, 2, OMIM:618364
Red SCN8A in Adult onset neurodegenerative disorder Version 4.47 Latest signed off version: v4.34 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Wessex and West Midlands GLH Yorkshire and North East GLH NHS GMS London North GLH Phenotypes epilepsy Cognitive impairment with or without cerebellar ataxia, 614306 paroxysmal kinesigenic dyskinesias
Red SCN8A in Fetal anomalies Version 3.155 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes COGNITIVE IMPAIRMENT WITH OR WITHOUT CEREBELLAR ATAXIA EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13
Red SCN8A in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 3: Craniosynostosis syndromes Level 2: Skeletal disorders Version 4.179 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Phenotypes craniosynostosis, MONDO:0015469
Green SCN8A in DDG2P Version 3.87 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 EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 13, 614558
Green SCN8A in Early onset or syndromic epilepsy Level 3: Inherited Epilepsy Syndromes Level 2: Neurology and neurodevelopmental disorders Version 4.193 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, imprinted status unknown	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 Review Green Phenotypes Developmental and epileptic encephalopathy 13, OMIM:614558 Seizures, benign familial infantile, 5, OMIM:617080 ?Myoclonus, familial, 2, OMIM:618364 Tags to_be_confirmed_NHSE for-review
Green SCN8A in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.532 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 Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558
Green SCN8A in Hereditary ataxia with onset in adulthood Version 4.34 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Wessex and West Midlands GLH Expert Review Green Brain channelopathy v1.46 Hereditary ataxia v1.148 Phenotypes Cognitive impairment with or without cerebellar ataxia, OMIM:614306 Developmental and epileptic encephalopathy 13, OMIM:614558
Red SCN8A in Adult onset dystonia, chorea or related movement disorder Version 3.18 Latest signed off version: v3.12 (31 Jul 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red NHS GMS London North GLH Phenotypes epilepsy paroxysmal kinesigenic dyskinesias
Green SCN8A in Childhood onset dystonia, chorea or related movement disorder Version 3.75 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources PanelApp Expert Review Green London North GLH Phenotypes Seizures, benign familial infantile, 5, OMIM:617080 Paroxysmal kinesigenic dyskinesias
Green SCN8A 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, 13, 614558 ?Myoclonus, familial, 2, 618364 Cognitive impairment with or without cerebellar ataxia, 614306 Seizures, benign familial infantile, 5, 617080