Genomics England

PPP1CB

protein phosphatase 1 catalytic subunit beta

Panel	Mode of inheritance	Details
Filter panels7 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 Rasopathy with developmental delay, short stature and sparse slow-growing hair
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Rasopathy with developmental delay, short stature and sparse slow-growing hair
Green in Intellectual disability 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, imprinted status unknown	Phenotypes Noonan syndrome-like disorder with loose anagen hair 2 617506
Green in Monogenic short stature R-numbers: R453 Signed-off version 1.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan syndrome-like disorder with loose anagen hair 2, OMIM:617506
Green in Paediatric or syndromic cardiomyopathy Component of the following Super Panels: - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R135 Signed-off version 4.3	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 Pigmentary skin disorders 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
Green in Primary lymphoedema 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