Fetal hydrops
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 28 panels
1 review
Rebecca Foulger (Genomics England curator)
Comment on mode of pathogenicity: Gain of function mutations.Created: 21 Dec 2016, 2:49 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Eligibility statement prior genetic testing
- Expert Review Green
- Phenotypes
-
- Costello syndrome
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- Complete
- 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
-
- Hereditary neuropathy
- Arthrogryposis
- Neurological segmental overgrowth
- Early onset or syndromic epilepsy
- Childhood solid tumours cancer susceptibility
- Paediatric or syndromic cardiomyopathy
- Intellectual disability
- Hereditary neuropathy or pain disorder
- Pigmentary skin disorders
- Multiple monogenic benign skin tumours
- Sarcoma cancer susceptibility
- Primary lymphoedema
- Cytopenias and congenital anaemias
- Mosaic skin disorders - deep sequencing
- Fetal hydrops
- Fetal anomalies
- Familial rhabdomyosarcoma
- Childhood solid tumours
- Pneumothorax - familial
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma susceptibility
- Adult solid tumours cancer susceptibility
- RASopathies
- IUGR and IGF abnormalities
- Congenital myopathy
- Monogenic short stature
- Hypertrophic cardiomyopathy
- DDG2P
History Filter Activity
panel promoted to version 1
Rebecca Foulger (Genomics England curator)21 December 2016. External reviews were assessed, and panel was revised according to expert review, internal discussion and additional curation. Following internal discussion, all genes from the V1.14 'RASopathies' panel were added as green EXCLUDING NF1 and SPRED1- a cautious approach was taken because Fetal hydrops is a fetal panel. All relevant genes from the 'Mucopolysaccharideosis, Gaucher, Fabry' V1.0 panel (lysosomal storage disorders) were also added to the Fetal hydrops panel as green together with genes from the literature where there is a reasonable link between the corresponding lysosomal storage disorder (LSD) and Fetal hydrops. All PEX genes from the V1.2 'Peroxisomal disorders' panel were added as green based on a link between peroxisomal biogenesis disorders and Fetal hydrops.
Set mode of pathogenicity
Rebecca Foulger (Genomics England curator)Mode of pathogenicity for HRAS was changed to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments
Upload gene information
Rebecca Foulger (Genomics England curator)HRAS was added to Fetal hydropspanel. Sources: Eligibility statement prior genetic testing
Added New Source
Rebecca Foulger (Genomics England curator)HRAS was added to Fetal hydropspanel. Sources: Expert Review Green
Created
Rebecca Foulger (Genomics England curator)HRAS was created by rfoulger