Arthrogryposis
Gene: HRAS
HRAS (HRas proto-oncogene, GTPase)
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
EnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 30 panels
1 review
Alice Gardham (Genomics England)
Comment when marking as ready: No clear association with arthrogryposisCreated: 5 Jan 2017, 9:09 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Red
- Radboud University Medical Center, Nijmegen
- Expert list
- 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
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- Complete
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Multiple monogenic benign skin tumours
- Primary lymphoedema
- Hypertrophic cardiomyopathy
- Adult solid tumours cancer susceptibility
- Mosaic skin disorders - deep sequencing
- DDG2P
- Hereditary neuropathy
- Arthrogryposis
- Segmental overgrowth disorders - Deep sequencing
- Fetal hydrops
- Familial rhabdomyosarcoma
- Sarcoma of possible germline origin
- Congenital myopathy
- RASopathies
- IUGR and IGF abnormalities
- Intellectual disability
- Pigmentary skin disorders
- Childhood solid tumours cancer susceptibility
- Embryonal tumour of possible germline origin
- Monogenic short stature
- Hereditary neuropathy or pain disorder
- Early onset or syndromic epilepsy
- Sarcoma cancer susceptibility
- Cytopenias and congenital anaemias
- Pneumothorax - familial
- Neurological segmental overgrowth
- Fetal anomalies
- Sarcoma susceptibility
- Childhood solid tumours
History Filter Activity
16 Jan 2017, Gel status: 1
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
5 Jan 2017, Gel status: 1
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Red List (Low Evidence).
21 Dec 2016, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)HRAS was added to Arthrogryposispanel. Source: Radboud University Medical Center, Nijmegen
21 Dec 2016, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)HRAS was added to Arthrogryposispanel. Sources: Expert list
21 Dec 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)HRAS was created by ellenmcdonagh