TAF13

TATA-box binding protein associated factor 13
OMIM: 600774, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Amber TAF13 in Severe microcephaly


Level 2: Neurology
Version 8.31
Latest signed off version: v8.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • Other
  • Literature
Phenotypes
  • Mental retardation, autosomal recessive 60 617432
Tags
  • watchlist
Amber TAF13 in Fetal anomalies


Level 2: Fetal (including NIPD)
Version 6.140
Latest signed off version: v6.0 (30 Apr 2025)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
Phenotypes
  • Autosomal-Recessive Intellectual Disability and Microcephaly
Green TAF13 in DDG2P


Version 6.424
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • Autosomal-Recessive Intellectual Disability and Microcephaly
    Amber TAF13 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.279
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Amber
    • Literature
    • Other
    Phenotypes
    • Mental retardation, autosomal recessive 60 617432
    Tags
    • watchlist