Genomics England
GMS Panels
Panels
Genes and Entities

DEAF1

DEAF1, transcription factor
OMIM: 602635
PanelMode of inheritanceDetails
3 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Autism, intellectual disability, basal ganglia dysfunction and epilepsy, MENTAL RETARDATION, AUTOSOMAL DOMINANT 24 615828
Green
in Early onset or syndromic epilepsy
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 7.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Dyskinesia, seizures, and intellectual developmental disorder, 617171
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 8.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
?Dyskinesia, seizures, and intellectual developmental disorder, 617171, Mental retardation, autosomal dominant 24, 615828