PanelApp (test)
  1. Genes and Genomic Entities
  2. TAF2:Ensemblv115

TAF2:Ensemblv115

TATA-box binding protein associated factor 2
OMIM: 604912, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green TAF2 in Microcephaly


Level 2: Dysmorphic and congenital abnormality syndromes
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green
Phenotypes
  • Intellectual development disorder, autosomal recessive 40, MIM# 615599

Green TAF2 in Callosome


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

1 review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual development disorder, autosomal recessive 40, MIM# 615599

Green TAF2 in Intellectual disability syndromic and non-syndromic


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews BIALLELIC, autosomal or pseudoautosomal
Sources
  • Genetic Health Queensland
  • Expert Review Green
Phenotypes
  • Intellectual development disorder, autosomal recessive 40, MIM# 615599