SCN8A

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

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green SCN8A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Cerebral Palsy Epileptic encephalopathy 13 MIM# 614558 Cognitive impairment with or without cerebellar ataxia MIM# 614306
Green SCN8A in Brain Channelopathies Level 2: Neurology and neurodevelopmental disorders Version 1.3 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Myoclonus, familial, 2, MIM# 618364 epilepsy paroxysmal kinesigenic dyskinesias
Green SCN8A in Mendeliome Version 1.1891	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive Myoclonus, familial, 2, MIM# 618364 paroxysmal kinesigenic dyskinesias Cognitive impairment with or without cerebellar ataxia, MIM# 614306
Green SCN8A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 13, MIM# 614558 dominant and recessive
Green SCN8A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 13, MIM# 614558
Green SCN8A in Paroxysmal Dyskinesia Level 2: Neurology and neurodevelopmental disorders Version 0.131 Component of the following Super Panels: Dystonia_Superpanel Neuromuscular Superpanel Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Children's Hospital Neurology Department Victorian Clinical Genetics Services Phenotypes Complex neurodevelopmental disorder MONDO:0100038
Green SCN8A in Ataxia - paediatric Level 2: Neurology and neurodevelopmental disorders Version 1.26 Component of the following Super Panels: Ataxia_Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Epileptic encephalopathy 13, 614558 Cognitive impairment with or without cerebellar ataxia, 614306
Red SCN8A in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red Genomics England PanelApp Phenotypes Developmental and epileptic encephalopathy 13, MIM#614558, dominant and recessive Myoclonus, familial, 2, MIM# 618364 paroxysmal kinesigenic dyskinesias Cognitive impairment with or without cerebellar ataxia, MIM# 614306
Red SCN8A in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BeginNGS Phenotypes Developmental and epileptic encephalopathy 13, MIM#614558