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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.13 | CDKN2C | Ivone Leong Classified gene: CDKN2C as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.13 | CDKN2C |
Ivone Leong Added comment: Comment on list classification: This gene has been proposed to have Green status by Soo-Mi Park (East Anglian Medical Genetics Service). This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Based on the currently available information there does not appear to be enough evidence to support a gene-disease association. Until more evidence is available this gene has been promoted from Red to Amber. |
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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.13 | CDKN2C | Ivone Leong Gene: cdkn2c has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.12 | CDKN2C | Ivone Leong Tag watchlist tag was added to gene: CDKN2C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.12 | CDKN2C |
Ivone Leong Added comment: Comment on publications: PMID: 19141585 is study looking at cases of MEN1 or related states for germline mutations in all cyclin-dependent kinase inhibitor (CDKI) genes. 196 cases were tested. 1 case had CDKN2C V31L, who had primary HPT with a family history of HPT. PMID: 23715670. 85 parathyroid adenomas from 85 cases were screened. 2 adenomas had CDKN2C variants (c.62 T>A, Leu21His and c.494C>T, Thr165Ile). Both cases have no family history of primary hyperparathyroidism (one germline case and one somatic case). PMID: 30536424. 121 patients were screened. No variants were found in CDKN2C. |
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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.12 | CDKN2C | Ivone Leong Publications for gene: CDKN2C were set to 19141585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDKN2C | Treena Cranston reviewed gene: CDKN2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDKN2C | Ivone Leong Marked gene: CDKN2C as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDKN2C | Ivone Leong Gene: cdkn2c has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 | CDKN2C | Ivone Leong reviewed gene: CDKN2C: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.8 | CDKN2C | Ivone Leong Publications for gene: CDKN2C were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.7 | CDKN2C | Ivone Leong Phenotypes for gene: CDKN2C were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | CDKN2C |
Ivone Leong gene: CDKN2C was added gene: CDKN2C was added to Familial hyperparathyroidism. Sources: UKGTN Mode of inheritance for gene: CDKN2C was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDKN2C were set to No OMIM number |
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