TBL1XR1

transducin beta like 1 X-linked receptor 1
OMIM: 608628
PanelMode of inheritanceDetails
4 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pierpont syndrome, Intellectual disability with autism spectrum disorder
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 5.10
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Mental retardation, autosomal dominant 41, 616944, Pierpont syndrome, 602342
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Intellectual disability with autism spectrum disorder, Pierpont syndrome
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AUTISM