Ataxia and cerebellar anomalies - narrow panel
Gene: TBC1D23EnsemblGeneIds (GRCh38): ENSG00000036054
EnsemblGeneIds (GRCh37): ENSG00000036054
OMIM: 617687, Gene2Phenotype
TBC1D23 is in 6 panels
3 reviews
Eleanor Williams (Genomics England Curator)
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
Ivone Leong (Genomics England Curator)
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
Zornitza Stark (Australian Genomics)
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
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Pontocerebellar hypoplasia, type 11, OMIM:617695
- OMIM
- 617687
- Clinvar variants
- Variants in TBC1D23
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag
Eleanor Williams (Genomics England Curator)Tag Q2_21_rating was removed from gene: TBC1D23.
Added New Source, Added New Source, Status Update
Eleanor Williams (Genomics England Curator)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)
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TBC1D23 were changed from Pontocerebellar hypoplasia, type 11, MIM# 617695 to Pontocerebellar hypoplasia, type 11, OMIM:617695
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tbc1d23 has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag Q2_21_rating tag was added to gene: TBC1D23.
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TBC1D23 were set to 28823707; 28823706
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Australian Genomics)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