TAF1

TATA-box binding protein associated factor 1
OMIM: 313650
PanelMode of inheritanceDetails
4 panels
R-numbers: R57
Signed-off version 1.137
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)
Phenotypes
Dystonia-Parkinsonism, X-linked, 314250
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
R-numbers: R21
Signed-off version 1.92
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic 33, 300966, global developmental delay, intellectual disability