TAF1:Ensemblv115

TATA-box binding protein associated factor 1
OMIM: 313650, ClinGen, DECIPHER

4 panels

Panel Reviews Mode of inheritance Details
4 panels

Green TAF1 in Autism


Level 2: Neurology and neurodevelopmental disorders
Version 1.0

0 reviews Unknown
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services

Green TAF1 in Cerebral Palsy


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Green
Phenotypes
  • Intellectual developmental disorder, X-linked syndromic 33, OMIM #300966
  • Dystonia-Parkinsonism, X-linked, OMIM #314250

Amber TAF1 in Congenital Heart Defect


Level 2: Cardiovascular disorders
Version 1.0

1 review X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Literature
  • Expert Review Amber
Phenotypes
  • Mental retardation, X-linked, syndromic 33 300966
  • congenital cardiac disease and global developmental delay

No list TAF1 in Dystonia - isolated/combined


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

2 reviews X-LINKED: hemizygous mutation in males, biallelic mutations in females
Sources
  • Royal Melbourne Hospital
  • Expert Review Removed
Phenotypes
  • Dystonia-Parkinsonism, X-linked, 314250
  • (NB complex mutation)
Tags
  • deep intronic
  • founder