Intellectual disability syndromic and non-syndromic
Gene: HRAS

HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Well established gene-disease association, over 100 affected individuals reported with a characteristic coarse facies, short stature, distinctive hand posture and appearance, severe feeding difficulty, and failure to thrive. Other features include cardiac anomalies and developmental disability. Facial warts, particularly nasolabial, are often present in childhood.
Created: 11 Sep 2020, 10:16 a.m. | Last Modified: 11 Sep 2020, 10:16 a.m.

Panel Version: 0.2983

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Costello syndrome, MIM# 218040

Publications

Mode of pathogenicity
Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Created: 11 Sep 2020, 10:16 a.m.
Last Modified: 11 Sep 2020, 10:16 a.m.
Panel version: 0.2983

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Green
Genetic Health Queensland

Phenotypes

Costello syndrome, MIM# 218040

OMIM

190020

Clinvar variants

Variants in HRAS

Penetrance

None

Publications

Mode of Pathogenicity

Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments

Panels with this gene