CTNNB1

PanelMode of inheritanceDetails
5 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19 615075
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Mental retardation, autosomal dominant 19, 615075Colorectal cancer, somatic, 114500Pilomatricoma, somatic, 132600Ovarian cancer, somatic, 167000Hepatocellular carcinoma, somatic, 114550, MENTAL RETARDATION, AUTOSOMAL DOMINANT 19
R-numbers: R32, R33, R34, R35
Signed-off version 2.195
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Exudative vitreoretinopathy 7 617572
R-numbers: R88
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
primary microcephaly, Mental retardation, autosomal dominant 19, 615075