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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 | CDKN1A |
Ivone Leong changed review comment from: Comment on list classification: This gene has been proposed to have Green status by Soo-Mi Park (East Anglian Medical Genetics Service). 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.; to: 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 v2.8 | CDKN1A | Ivone Leong Tag watchlist tag was added to gene: CDKN1A. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 | CDKN1A | Ivone Leong Classified gene: CDKN1A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.8 | CDKN1A |
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). 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 v2.8 | CDKN1A | Ivone Leong Gene: cdkn1a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.7 | CDKN1A |
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 CDKN1A R67L, who had primary HPT with a family history of HPT. PMID: 23715670. 85 parathyroid adenomas from 85 cases were screened. 2 adenomas had CDKN1A variants (c.350G>A p.C117Y and c.26G>A p.R9H). Both cases have no family history of primary hyperparathyroidism (one germline and one of undetermined germline status). PMID: 30536424. 121 patients were screened. A single CKDN1A VUS was identified (c.350G > A p.(Cys117Tyr)). The authors have deemed this variant likely benign based on gnomAD frequency of near 1 in 500 and reported as a VUS on ClinVar. This variant was also identified in PMID: 23715670. |
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| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v2.7 | CDKN1A | Ivone Leong Publications for gene: CDKN1A were set to 19141585 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDKN1A | Treena Cranston edited their review of gene: CDKN1A: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDKN1A | Treena Cranston reviewed gene: CDKN1A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDKN1A | Ivone Leong Marked gene: CDKN1A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | CDKN1A | Ivone Leong Gene: cdkn1a has been classified as Red List (Low Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 | CDKN1A | Ivone Leong reviewed gene: CDKN1A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.10 | CDKN1A | Ivone Leong Publications for gene: CDKN1A were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.5 | CDKN1A | Ivone Leong Phenotypes for gene: CDKN1A were changed from No OMIM number to No OMIM number; Multiple endocrine neoplasia 1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | CDKN1A |
Ivone Leong gene: CDKN1A was added gene: CDKN1A was added to Familial hyperparathyroidism. Sources: UKGTN Mode of inheritance for gene: CDKN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDKN1A were set to No OMIM number |
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