| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Calcium and Phosphate disorders v1.24 | HRAS | Zornitza Stark Tag somatic tag was added to gene: HRAS. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.20 | HRAS | Bryony Thompson Marked gene: HRAS as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.20 | HRAS | Bryony Thompson Gene: hras has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.20 | HRAS | Bryony Thompson Classified gene: HRAS as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.20 | HRAS | Bryony Thompson Gene: hras has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Calcium and Phosphate disorders v1.19 | HRAS |
Bryony Thompson 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 Added comment: 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: Literature |
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