Ataxia and cerebellar anomalies - narrow panel
Gene: SCN8A
The rating of this gene has been updated to green following NHS Genomic Medicine Service approval.Created: 5 Feb 2023, 5:18 p.m. | Last Modified: 5 Feb 2023, 5:18 p.m.
Panel Version: 3.30
Comment on list classification: Upgraded from Red to Amber but there is enough evidence to rate this gene as Green at the next GMS panel update.Created: 21 Jun 2021, 1:02 p.m. | Last Modified: 21 Jun 2021, 1:02 p.m.
Panel Version: 2.204
SCN8A is associated with a range of phenotypes including epilepsy, neurodevelopmental defects, and movement disorders. Some individuals with deleterious SCN8A variants develop ataxia - at least 14 individuals with ataxia reported in literature (see publications list). Variable age of onset - mostly during childhood but adult-onset cases have also been described.
Several patients with the other phenotypes (although not including ataxia) have been reported as having cerebellar abnormalities. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.Created: 21 Jun 2021, 1 p.m. | Last Modified: 21 Jun 2021, 1:10 p.m.
Panel Version: 2.204
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558
Publications
Ataxia is part of SCN8A-related neurodevelopmental phenotypes.Created: 12 Sep 2020, 7:56 a.m. | Last Modified: 12 Sep 2020, 7:56 a.m.
Panel Version: 2.12
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Cognitive impairment with or without cerebellar ataxia, MIM# 614306; Epileptic encephalopathy, early infantile, 13, MIM# 614558
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: SCN8A.
Source Expert Review Green was added to SCN8A. Source NHS GMS was added to SCN8A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Gene: scn8a has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: SCN8A.
Publications for gene: SCN8A were set to
Phenotypes for gene: SCN8A were changed from Cognitive impairment with or without cerebellar ataxia, 614306 to Cognitive impairment with or without cerebellar ataxia, OMIM:614306; Developmental and epileptic encephalopathy 13, OMIM:614558
Mode of inheritance for gene: SCN8A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Mode of inheritance for gene: SCN8A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Rebecca Foulger: Comment on list classification
gene: SCN8A was added gene: SCN8A was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Red Mode of inheritance for gene: SCN8A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: SCN8A were set to Cognitive impairment with or without cerebellar ataxia, 614306