| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.22 | GNA11 | Arina Puzriakova Classified gene: GNA11 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.22 | GNA11 | Arina Puzriakova Gene: gna11 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.21 | GNA11 |
Arina Puzriakova gene: GNA11 was added gene: GNA11 was added to Familial hyperparathyroidism. Sources: NHS GMS Mode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GNA11 were set to 23222959; 26729423 Phenotypes for gene: GNA11 were set to Hypocalcemia, autosomal dominant 2, OMIM:615361; Hypocalciuric hypercalcemia, type II, OMIM:145981 Review for gene: GNA11 was set to GREEN Added comment: This gene has been confirmed for this panel by the NHS Genomic Medicine Service and should be rated green. GNA11 pathogenic variants are causative of FHH type 2 (much rarer than FHH1 and FHH3) Sources: NHS GMS |
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