Monogenic short stature
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
2 reviews
Rebecca Foulger (Genomics England curator)
Following discussion with members of the Endocrine Specialist Group at the Webex call on 23.05.19, it was agreed that genes associated with RASopathies should be included on this panel, excluding NF1. Therefore kept on the panel as a Green gene.Created: 30 May 2019, 9:54 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Costello syndrome
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
Ivone Leong (Genomics England Curator)
This gene is part of a consensus list for SRS/SRS-like testing provided by Frederic Brioude. Suggested initial gene rating: Green; Evidence for inclusion: none given; Evidence for exclusion: none given; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none given; Phenotypes: CostelloCreated: 14 May 2019, 1:25 p.m.
Phenotypes
Costello
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Costello syndrome, OMIM: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
-
- Adult solid tumours cancer susceptibility
- Monogenic short stature
- Embryonal tumour of possible germline origin
- Primary lymphoedema
- Pneumothorax - familial
- Neurological segmental overgrowth
- Fetal hydrops
- Fetal anomalies
- Hypertrophic cardiomyopathy
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Congenital myopathy
- Hereditary neuropathy
- RASopathies
- IUGR and IGF abnormalities
- Pigmentary skin disorders
- Paediatric or syndromic cardiomyopathy
- Childhood solid tumours cancer susceptibility
- Segmental overgrowth disorders - Deep sequencing
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Mosaic skin disorders - Deep sequencing
- Early onset or syndromic epilepsy
- Arthrogryposis
- Sarcoma susceptibility
- Intellectual disability
- Childhood solid tumours
- Multiple monogenic benign skin tumours
- DDG2P
- Hereditary neuropathy or pain disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Arina Puzriakova (Genomics England Curator)gene: HRAS was added gene: HRAS was added to Monogenic short stature. Sources: Expert list,Expert Review Green Mode of inheritance for gene: HRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: HRAS were set to 16170316; 16969868; 16443854; 21396583 Phenotypes for gene: HRAS were set to Costello syndrome, OMIM:218040 Mode of pathogenicity for gene: HRAS was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments