Hereditary ataxia with onset in adulthood
Gene: TBC1D23The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 9 Mar 2022, 5:26 p.m. | Last Modified: 9 Mar 2022, 5:26 p.m.
Panel Version: 2.144
The tag Q2_21_phenotype has been added to this gene, because variants in this gene are associated with childhood onset phenotype.Created: 26 May 2021, 12:11 p.m. | Last Modified: 26 May 2021, 12:11 p.m.
Panel Version: 2.71
Childhood onset disorder.Created: 13 Sep 2020, 7:10 a.m. | Last Modified: 13 Sep 2020, 7:10 a.m.
Panel Version: 2.9
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 11, MIM# 617695
Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.Created: 15 Apr 2019, 10:21 a.m.
Sufficient families reported across the two publicationsCreated: 15 Apr 2019, 10:06 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia type 11, 617695
Tag Q2_21_phenotype was removed from gene: TBC1D23.
Source Expert Review Amber was added to TBC1D23. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia type 11, 617695 to Pontocerebellar hypoplasia type 11 OMIM:617695; pontocerebellar hypoplasia, type 11 MONDO:0054669
Tag Q2_21_phenotype tag was added to gene: TBC1D23.
Gene: tbc1d23 has been classified as Green List (High Evidence).
Mode of inheritance for gene: TBC1D23 was changed from to BIALLELIC, autosomal or pseudoautosomal
Added phenotypes Pontocerebellar hypoplasia type 11, 617695 for gene: TBC1D23
Source NHS GMS was added to TBC1D23.
gene: TBC1D23 was added gene: TBC1D23 was added to Hereditary ataxia - adult onset. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: TBC1D23 was set to