PPP1CB

protein phosphatase 1 catalytic subunit beta
OMIM: 600590
PanelMode of inheritanceDetails
7 panels
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Rasopathy with developmental delay, short stature and sparse slow-growing hair
R-numbers: R21, R412
Signed-off version 3.0
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 3.0
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:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2 617506
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 3.0
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
R-numbers: R236
Signed-off version 3.0
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 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Noonan syndrome-like disorder with loose anagen hair 2 617506