RASA1

RAS p21 protein activator 1
OMIM: 139150
PanelMode of inheritanceDetails
7 panels
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 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PARKES WEBER SYNDROME 608355, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION 608354
R-numbers: R21
Signed-off version 1.92
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
PARKES WEBER SYNDROME, CAPILLARY MALFORMATION-ARTERIOVENOUS MALFORMATION
R-numbers: R327
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Capillary malformation-arteriovenous malformation syndrome
R-numbers: R136
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Capillary malformation-arteriovenous malformation 1 608354
R-numbers: R110
Signed-off version 2.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Parkes Weber syndrome, 608355, PKWS, Parkes Weber Syndrome
R-numbers: R326
Signed-off version 1.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Capillary malformation-arteriovenous malformation syndrome