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| 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 v2.9 | CDKN2B |
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. 2 case had CDKN2B N41D and L64R. Both cases had primary HPT and there is no family history of the phenotype. PMID: 23715670. 85 parathyroid adenomas from 85 cases were screened. 1 adenoma had a CDKN2B variant (c.256G>A, Asp86Asn). There was no family history of primary hyperparathyroidism and variant was confirmed in the germline. PMID: 30536424. 121 patients were screened. No variants were found in CDKN2B. |
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| 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 v0.28 | MEN1 | Ivone Leong commented on gene: MEN1: As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.18 | MEN1 | Ivone Leong Phenotypes for gene: MEN1 were changed from Multiple endocrine neoplasia 1 (131100) to Multiple endocrine neoplasia 1 (131100); Familial isolated hyperparathyroidism | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.17 | MEN1 | Ivone Leong Publications for gene: MEN1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | MEN1 | Treena Cranston reviewed gene: MEN1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25162666, PMID: 28740527; Phenotypes: MEN1, familial isolated hyperparathyroidism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | MEN1 | Ivone Leong Marked gene: MEN1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.11 | MEN1 | Ivone Leong Gene: men1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | MEN1 | Ivone Leong commented on gene: MEN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Familial hyperparathyroidism or hypocalciuric hypercalcaemia v0.1 | MEN1 |
Ivone Leong gene: MEN1 was added gene: MEN1 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 (131100) |
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