Hereditary ataxia
Gene: SCN8A
Comment on list classification: Upgraded from Red to Green - there is now a sufficient number of unrelated cases (>3) presenting ataxia in association with variants in the gene, supported by an animal model.Created: 21 Jun 2021, 1:05 p.m. | Last Modified: 21 Jun 2021, 1:05 p.m.
Panel Version: 1.227
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. Mouse Scn8a mutants exhibit movement disorders including ataxia, tremor and dystonia.Created: 21 Jun 2021, 1:04 p.m. | Last Modified: 21 Jun 2021, 1:10 p.m.
Panel Version: 1.228
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
Comment on list classification: Single case and with inconclusive evidence in OMIMCreated: 4 Feb 2016, 2:27 p.m.
Not convincing - only a single family since 2006. Not on our panel. Mode of pathogenicity: loss-of-function/haploinsufficiency.Created: 24 Nov 2015, 4:57 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Cognitive impairment with or without cerebellar ataxia, 614306
Publications for gene: SCN8A were set to
Gene: scn8a has been classified as Green List (High Evidence).
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
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
Model of inheritance for gene SCN8A was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
SCN8A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen
SCN8A was added to Hereditary ataxiapanel. Sources: UKGTN,Radboud University Medical Center, Nijmegen