Ataxia and cerebellar anomalies - narrow panel
Gene: TBC1D23
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: New gene added by Zornitza Stark (Australian Genomics). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype. There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.Created: 19 Apr 2021, 2:41 p.m. | Last Modified: 19 Apr 2021, 2:41 p.m.
Panel Version: 2.121
Comment on publications: PMID:28823707. 2 of 3 unrelated families (4 of 7 affected individuals) had ataxia. 1 family (3 affected individuals) had coloboma and strabismus. 1 family (1 individual) had hyperopia and strabismus.
PMID:28823706. 2 of 4 unrelated families (4 of 6 affected individuals) had ataxia. 2 of 6 individuals with eye phenotype (strabismus or esotropia of the left eye).
PMID: 32360255. 1 case with ataxia. No eye phenotype reported.Created: 19 Apr 2021, 2:40 p.m. | Last Modified: 19 Apr 2021, 2:40 p.m.
Panel Version: 2.120
Seven unrelated families reported, ataxia is part of the phenotype.
Sources: Expert listCreated: 13 Sep 2020, 7:09 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pontocerebellar hypoplasia, type 11, MIM# 617695
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag Q2_21_rating was removed from gene: TBC1D23.
Source Expert Review Green was added to TBC1D23. Source NHS GMS was added to TBC1D23. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia, type 11, MIM# 617695 to Pontocerebellar hypoplasia, type 11, OMIM:617695
Gene: tbc1d23 has been classified as Amber List (Moderate Evidence).
Tag Q2_21_rating tag was added to gene: TBC1D23.
Publications for gene: TBC1D23 were set to 28823707; 28823706
gene: TBC1D23 was added gene: TBC1D23 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert list Mode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBC1D23 were set to 28823707; 28823706 Phenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, MIM# 617695 Review for gene: TBC1D23 was set to GREEN gene: TBC1D23 was marked as current diagnostic