SCN1A

sodium voltage-gated channel alpha subunit 1
OMIM: 182389, Gene2Phenotype

16 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 16 panels
Green SCN1A in Early-onset Parkinson disease Level 2: Neurology and neurodevelopmental disorders Version 2.3 Component of the following Super Panels: Neurodegenerative disease - adult onset Progressive Neurological Conditions Tremors_Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Dravet syndrome, MIM# 607208 Epilepsy, Paekinsonism
Green SCN1A in Alternating Hemiplegia and Hemiplegic Migraine Level 2: Neurology and neurodevelopmental disorders Version 0.57	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Migraine, familial hemiplegic, 3, MIM# 609634
Green SCN1A in Arthrogryposis Level 2: Neurology and neurodevelopmental disorders Version 0.411 Component of the following Super Panels: Neuromuscular Superpanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Arthrogryposis multiplex congenita Dravet syndrome, MIM# 607208
Green SCN1A in Autism Level 2: Neurology and neurodevelopmental disorders Version 0.198	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green SCN1A in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.356	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Developmental and epileptic encephalopathy 6B, non-Dravet (OMIM 619317) Dravet syndrome (OMIM 607208)
Green SCN1A 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 Dravet syndrome 607208 Epilepsy, generalized, with febrile seizures plus, type 2 604403 Febrile seizures, familial, 3A 604403 Migraine, familial hemiplegic, 3 609634
Green SCN1A in Mendeliome Version 1.1891	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM# 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Genetic Epilepsy Febrile Seizures plus (GEFS+) Syndrome Febrile seizures Arthrogryposis multiplex congenita
Green SCN1A in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 1.33 Component of the following Super Panels: Progressive Neurological Conditions	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epilepsy, generalized, with febrile seizures plus, type 2 604403 Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317 Febrile seizures, familial, 3A 604403
Green SCN1A in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 0.6063	review	Unknown	Sources Expert Review Green Genetic Health Queensland Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Developmental and epileptic encephalopathy 6B, non-Dravet, MIM# 619317
Green SCN1A 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	Unknown	Sources Royal Children's Hospital Neurology Department Expert Review Green Victorian Clinical Genetics Services
Green SCN1A 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, early infantile, 6 (Dravet syndrome), MIM# 607208
Green SCN1A in Additional findings_Paediatric Level 2: Screening Version 0.278	review	BIALLELIC, autosomal or pseudoautosomal	Sources BabySeq Category A gene Expert Review Green Phenotypes Dravet syndrome
Green SCN1A in Fetal anomalies Version 1.255	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genomics England PanelApp Genetic Health Queensland Phenotypes Dravet syndrome, OMIM:607208 Arthrogryposis multiplex congenita
Green SCN1A in Focal Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources GREP Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Epilepsy, generalized, with febrile seizures plus, type 2 604403
Green SCN1A in Familial Generalised Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 0.14	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources GREP Expert Review Green Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome) 607208 Epilepsy, generalized, with febrile seizures plus, type 2 604403
Red SCN1A in BabyScreen+ newborn screening Level 2: Screening Version 1.113	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red BabySeq Category A gene BeginNGS Phenotypes Epileptic encephalopathy, early infantile, 6 (Dravet syndrome), MIM#604403 Developmental and epileptic encephalopathy 6B, non-Dravet , MIM#619317