Genomics England

RASA1

RAS p21 protein activator 1

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Capillary malformation-arteriovenous malformation 1, OMIM:608354
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PARKES WEBER SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
Green in Hereditary haemorrhagic telangiectasia R-numbers: R186 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Capillary malformation-arteriovenous malformation 608354
Green in Mosaic skin disorders - deep sequencing R-numbers: R327 Signed-off version 2.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Capillary malformation-arteriovenous malformation syndrome
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Capillary malformation-arteriovenous malformation 1 608354
Green in Segmental overgrowth disorders - Deep sequencing R-numbers: R110 Signed-off version 3.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Parkes Weber syndrome, 608355, PKWS, Parkes Weber Syndrome
Green in Vascular skin disorders R-numbers: R326 Signed-off version 1.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Capillary malformation-arteriovenous malformation syndrome