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 3: DNA repair disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.6
Signed off v.2.2 on 2 Mar 2020

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


Version 1.73
Signed off v.1.2 on 17 Feb 2020

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

Amber TAF13 in DDG2P


Version 2.8
Signed off v.2.2 on 13 Feb 2020

Component of the following Super Panels:

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

    Amber TAF13 in Intellectual disability

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 3.79
    Signed off v.3.2 on 13 Feb 2020

    Component of the following Super Panels:

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