Genes in panel

Ataxia and cerebellar anomalies - narrow panel

Gene: TBC1D23

No list

TBC1D23 (TBC1 domain family member 23)
EnsemblGeneIds (GRCh38): ENSG00000036054
EnsemblGeneIds (GRCh37): ENSG00000036054
OMIM: 617687, Gene2Phenotype
TBC1D23 is in 6 panels

1 review

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
Phenotypes
  • Pontocerebellar hypoplasia, type 11, MIM# 617695
OMIM
617687
Clinvar variants
Variants in TBC1D23
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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