Genomics England

SHOC2

SHOC2, leucine rich repeat scaffold protein

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan-like syndrome with loose anagen hair
Green in Childhood solid tumours Signed-off version 5.11	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan-like syndrome with loose anagen hair
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR 607721
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan-like syndrome with loose anagen hair, 607721, NOONAN-LIKE SYNDROME WITH LOOSE ANAGEN HAIR
Green in Monogenic short stature R-numbers: R453 Signed-off version 2.8	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan syndrome-like with loose anagen hair 1, OMIM:607721
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 8.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Noonan-like syndrome with loose anagen hair, syndromic HCM
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.12	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes NSLH1, Noonan-like syndrome with loose anagen hair, NOONAN SYNDROME-LIKE DISORDER WITH LOOSE ANAGEN HAIR 1
Green in Primary lymphoedema R-numbers: R136 Signed-off version 5.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Noonan-like syndrome with loose anagen hair 607721