Cataracts

Gene: TAF1A

Red List (low evidence)

TAF1A (TATA-box binding protein associated factor, RNA polymerase I subunit A)
EnsemblGeneIds (GRCh38): ENSG00000143498
EnsemblGeneIds (GRCh37): ENSG00000143498
OMIM: 604903, Gene2Phenotype
TAF1A is in 1 panel

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

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

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