Genomics England

RASA1

RAS p21 protein activator 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Cerebral vascular malformations R-numbers: R336 Signed-off version 2.2	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Capillary malformation-arteriovenous malformation, 608354, Parkes Weber syndrome, 608355, Parkes Weber syndrome (PKWS), Capillary Malformation-Arteriovenous Malformation Syndrome, Parkes Weber Syndrome, Parkes Weber syndrome
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PARKES WEBER SYNDROME 608355, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.4	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 3.1	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 2.1	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Capillary malformation-arteriovenous malformation syndrome
Green in Primary lymphoedema R-numbers: R136 Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Capillary malformation-arteriovenous malformation 1 608354
Green in Segmental overgrowth disorders 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