Calcium and Phosphate disorders
Gene: NRASEnsemblGeneIds (GRCh38): ENSG00000213281
EnsemblGeneIds (GRCh37): ENSG00000213281
OMIM: 164790, Gene2Phenotype
NRAS is in 18 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
5 cases with cutaneous skeletal hypophosphatemia syndrome and all with somatic mosaic activating NRAS Q61R
Sources: LiteratureCreated: 1 Apr 2024, 4:52 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
- OMIM
- 164790
- Clinvar variants
- Variants in NRAS
- Penetrance
- None
- Publications
- Mode of Pathogenicity
- Other
- Panels with this gene
-
- Rasopathy
- Calcium and Phosphate disorders
- Cardiomyopathy_Paediatric
- Lymphoedema_syndromic
- Vasculitis
- Hydrops fetalis
- Intellectual disability syndromic and non-syndromic
- Cancer Predisposition_Paediatric
- Vascular Malformations_Germline
- Macrocephaly_Megalencephaly
- Vascular Malformations_Somatic
- Fetal anomalies
- Congenital Heart Defect
- Autoimmune Lymphoproliferative Syndrome
- Mosaic skin disorders
- Mendeliome
- Callosome
- Growth failure
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nras has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: nras 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: NRAS was added gene: NRAS was added to Calcium and Phosphate disorders. Sources: Literature Mode of inheritance for gene: NRAS was set to Other Publications for gene: NRAS were set to 24006476; 35999193; 32157705; 27900779 Phenotypes for gene: NRAS were set to Costello syndrome MONDO:0009026 Mode of pathogenicity for gene: NRAS was set to Other Review for gene: NRAS was set to GREEN gene: NRAS was marked as current diagnostic