Calcium and Phosphate disorders
Gene: HRASEnsemblGeneIds (GRCh38): ENSG00000174775
EnsemblGeneIds (GRCh37): ENSG00000174775
OMIM: 190020, Gene2Phenotype
HRAS is in 22 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Gain of function is the mechanism of disease and only somatic mosaic variants have been reported in association with hypophosphataemia
PMID: 35738466 - 1 case with a VUS & vitamin dependent rickets as a feature of the phenotype
PMID: 36943390 - mouse model with hypophosphataemia
PMID: 30373874 - 1 somatic mosaic HRAS c.182A>G (p.Gln61Arg) case with cutaneous skeletal hypophosphatemia syndrome (CSHS)
PMID: 27444071 - review with 4 cases of CSHS with somatic mosaic variants (G13R or Q61R)
Sources: LiteratureCreated: 1 Apr 2024, 4:28 a.m.
Mode of inheritance
Other
Phenotypes
Costello syndrome MONDO:0009026
Publications
Mode of pathogenicity
Other
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- Other
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Costello syndrome MONDO:0009026
- Tags
- OMIM
- 190020
- Clinvar variants
- Variants in HRAS
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Rasopathy
- Calcium and Phosphate disorders
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- BabyScreen+ newborn screening
- Hydrops fetalis
- Sarcoma soft tissue
- Intellectual disability syndromic and non-syndromic
- Genetic Epilepsy
- Cancer Predisposition_Paediatric
- Muscular dystrophy and myopathy_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Additional findings_Paediatric
- Congenital Heart Defect
- Mosaic skin disorders
- Mendeliome
- Interstitial Lung Disease
- Callosome
- Growth failure
History Filter Activity
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag somatic tag was added to gene: HRAS.
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hras has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: hras has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set mode of pathogenicity
Bryony Thompson (Royal Melbourne Hospital)gene: HRAS was added gene: HRAS was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: HRAS was set to Other Publications for gene: HRAS were set to 35738466; 36943390; 30373874; 27444071 Phenotypes for gene: HRAS were set to Costello syndrome MONDO:0009026 Mode of pathogenicity for gene: HRAS was set to Other Review for gene: HRAS was set to GREEN gene: HRAS was marked as current diagnostic