Bilateral congenital or childhood onset cataracts
Gene: TAF1A

TAF1A (TATA-box binding protein associated factor, RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000143498
EnsemblGeneIds (GRCh37): ENSG00000143498
OMIM: 604903, Gene2Phenotype
TAF1A is in 2 panels

1 review

Ivone Leong (Genomics England Curator)

Red List (low evidence)

TAF1A is not associated with any phenotype on OMIM or Gene2Phenotype. PMID: 27878435 reported a consanguineous family with congenital cataract and global developmental delay where affected members had a small deletion variant that caused a premature stop site. There is currently not enough evidence for this gene to be rated green.
Created: 28 Aug 2019, 3:43 p.m. | Last Modified: 28 Aug 2019, 3:43 p.m.

Panel Version: 1.32

Publications

27878435

Created: 28 Aug 2019, 3:43 p.m.
Last Modified: 28 Aug 2019, 3:43 p.m.
Panel version: 1.32

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Literature

Phenotypes

Congenital cataract and global developmental delay

OMIM

604903

Clinvar variants

Variants in TAF1A

Penetrance

None

Publications

Panels with this gene

History Filter Activity

13 Aug 2024, Gel status: 1

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: TAF1A were set to 27878435

28 Aug 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TAF1A was added gene: TAF1A was added to Cataracts. Sources: Literature,Expert Review Red Mode of inheritance for gene: TAF1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TAF1A were set to 27878435 Phenotypes for gene: TAF1A were set to Congenital cataract and global developmental delay

Bilateral congenital or childhood onset cataracts Gene: TAF1A