PPP1CB

protein phosphatase 1 catalytic subunit beta
OMIM: 600590
PanelMode of inheritanceDetails
7 panels
R-numbers: R135
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rasopathy with developmental delay, short stature and sparse slow-growing hair, Noonan syndrome-like disorder with loose anagen hair 2, 617506
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rasopathy with developmental delay, short stature and sparse slow-growing hair
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rasopathy with developmental delay, short stature and sparse slow-growing hair
R-numbers: R147
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2, 617506, Rasopathy with developmental delay, short stature and sparse slow-growing hair
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, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2 617506
R-numbers: R236
Signed-off version 1.4
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
NSLH2, Rasopathy with developmental delay, short stature and sparse slow-growing hair, NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 2, Noonan syndrome-like disorder with loose anagen hair 2, 617506
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2 617506