Rare multisystem ciliopathy disorders
Gene: ATXN10Comment on mode of inheritance: Lack of phenotypic relevance for SNVs - nucleotide repeat expansion mechanismCreated: 5 Nov 2021, 1:47 p.m. | Last Modified: 5 Nov 2021, 1:47 p.m.
Panel Version: 1.151
Not a ciliopathy or closely related phenotypeCreated: 19 Dec 2016, 4:26 p.m.
Phenotypes
603516
Publications
Tagged due to nucleotide repeat expansion causing Spinocerebellar ataxia 10.Created: 30 Nov 2016, 10:53 a.m.
Tag currently-ngs-unreportable tag was added to gene: ATXN10.
Mode of inheritance for gene: ATXN10 was changed from to Other
Phenotypes for gene: ATXN10 were changed from Spinocerebellar ataxia 10, 603516; Ciliopathies to Spinocerebellar ataxia 10, OMIM:603516; Ciliopathies
Promoted to version 1 by Alice Gardham on 26th January 2017
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Amber List (Moderate Evidence).
This gene has been classified as Amber List (Moderate Evidence).
Mode of pathogenicity for ATXN10 was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
This gene has been classified as Red List (Low Evidence).
ATXN10 was added to Rare multisystem ciliopathy disorderspanel. Source: Emory Genetics Laboratory
ATXN10 was created by ellenmcdonagh
ATXN10 was added to Rare multisystem ciliopathy disorderspanel. Sources: Radboud University Medical Center, Nijmegen