1. Genes and Genomic Entities
  2. TAF4

TAF4

TATA-box binding protein associated factor 4
OMIM: 601796, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels
Amber TAF4 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 8.31
Latest signed off version: v8.0 (12 Aug 2026)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Amber
Phenotypes
  • intellectual developmental disorder, autosomal dominant 73, MONDO:0957536
  • Intellectual developmental disorder, autosomal dominant 73, OMIM:620450
Red TAF4 in DDG2P


Version 8.2
Latest signed off version: v8.0 (12 Aug 2026)

Component of the following Super Panels:

  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • DD-Gene2Phenotype
    • Literature
    Phenotypes
    • TAF4-related neurodevelopmental disorder
    • Developmental delay
    Green TAF4 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.86
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Intellectual developmental disorder, autosomal dominant 73, OMIM:620450