TAF1A

TATA-box binding protein associated factor, RNA polymerase I subunit A
OMIM: 604903, Gene2Phenotype

2 panels

Panel Reviews Mode of inheritance Details
2 panels
Red TAF1A in Bilateral congenital or childhood onset cataracts


Level 2: Ophthalmology
Version 7.6
Latest signed off version: v7.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • Congenital cataract and global developmental delay
Green TAF1A in Paediatric or syndromic cardiomyopathy


Level 2: Cardiology
Version 7.96
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Unexplained death in infancy and sudden unexplained death in childhood
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Paediatric dilated cardiomyopathy
    Tags
    • gene-checked