Genomics England
GMS Panels
Panels
Genes and Entities

TAF1

TATA-box binding protein associated factor 1
OMIM: 313650
PanelMode of inheritanceDetails
4 panels
Green
in Childhood onset dystonia, chorea or related movement disorder
R-numbers: R57
Signed-off version 4.3
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 4.3
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Green
in Fetal anomalies
R-numbers: R21, R412
Signed-off version 4.0
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Dysmorphic Features, Intellectual Disability, and Neurological Manifestations
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
X-LINKED: hemizygous mutation in males, biallelic mutations in females
Phenotypes
Mental retardation, X-linked, syndromic 33, 300966, global developmental delay, intellectual disability