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 1.74

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

Amber TAF13 in Fetal anomalies


Version 0.346

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

Amber TAF13 in DDG2P


Version 1.148

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 2.1098

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Amber
  • Literature
  • Other
Phenotypes
  • Mental retardation, autosomal recessive 60 617432
Tags
  • watchlist