Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TBC1D23

Amber List (moderate evidence)

TBC1D23 (TBC1 domain family member 23)
EnsemblGeneIds (GRCh38): ENSG00000036054
EnsemblGeneIds (GRCh37): ENSG00000036054
OMIM: 617687, Gene2Phenotype
TBC1D23 is in 7 panels

2 reviews

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)

Green List (high evidence)

Seven unrelated families reported, ataxia is part of the phenotype.
Sources: Expert list
Created: 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
  • Expert Review Amber
Phenotypes
  • Pontocerebellar hypoplasia, type 11, OMIM:617695
Tags
Q2_21_rating
OMIM
617687
Clinvar variants
Variants in TBC1D23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

19 Apr 2021, Gel status: 2

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

19 Apr 2021, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

Gene: tbc1d23 has been classified as Amber List (Moderate Evidence).

19 Apr 2021, Gel status: 0

Added Tag

Ivone Leong (Genomics England Curator)

Tag Q2_21_rating tag was added to gene: TBC1D23.

19 Apr 2021, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: TBC1D23 were set to 28823707; 28823706

13 Sep 2020, Gel status: 0

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