HRAS

HRas proto-oncogene, GTPase
OMIM: 190020
PanelMode of inheritanceDetails
11 panels
Signed-off version 2.2
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome
R-numbers: R359
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome, Costello syndrome, 218040
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.6
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES 218040, COSTELLO SYNDROME 218040
Component of the following Super Panels:
  • - Paediatric disorders
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R59
Signed-off version 6.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome, 218040, Schimmelpenning-Feuerstein-Mims syndrome, 218040
R-numbers: R21, R412
Signed-off version 4.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
COSTELLO SYNDROME, CONGENITAL MYOPATHY WITH EXCESS OF MUSCLE SPINDLES
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Bladder cancer, somatic}, 109800Costello syndrome, 218040{Thyroid carcinoma, follicular, somatic}, 188470Congenital myopathy with excess of muscle spindles, 218040{Nevus sebaceous, somatic}, 162900Schimmelpenning-Feuerstein-Mims syndrome, somatic mosaic, 163200, COSTELLO SYNDROME
R-numbers: R453
Signed-off version 1.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Costello syndrome, OMIM:218040
R-numbers: R327
Signed-off version 2.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Woolly hair, Phakomatosis pigmentokeratotica, Costello syndrome, Schimmelpenning syndrome, Epidermal naevi
Component of the following Super Panels:
  • - Unexplained death in infancy and sudden unexplained death in childhood
R-numbers: R135
Signed-off version 5.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Costello syndrome, syndromic HCM
R-numbers: R236
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
CSTLO, Costello syndrome, Phakomatosis pigmentokeratotica, Epidermal naevi, Woolly hair, Schimmelpenning syndrome, COSTELLO SYNDROME
R-numbers: R136
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Costello syndrome 218040