Familial hyperparathyroidism or hypocalciuric hypercalcaemia
Gene: CDC73
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Familial isolated hyperparathyroidism; Hyperparathyroidism Jaw Tumour syndrome
Publications
Variants in this GENE are reported as part of current diagnostic practice
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.Created: 29 Jan 2019, 11:51 a.m.
CDC73 is confirmed to be associated with Familial hyperparathyroidism in OMIM and associated with Hyperparathyroidism-jaw tumor syndrome in OMIM and Gene2Phenotype. CDC73 is a green gene in the Parathyroid cancer panel (Version 1.3) and Endocrine neoplasia panel (Version 1.7). There are >3 cases of unrelated patients with Familial primary hyperparathyroidism and Hyperparathyroidism-jaw tumor syndrome who have variants in CDC73 on OMIM.Created: 5 Dec 2018, 2:16 p.m.
Ivone Leong: CDC73 is confirmed to be assoc
Publications for gene: CDC73 were set to 12434154; 15531515
Gene: cdc73 has been classified as Green List (High Evidence).
gene: CDC73 was added gene: CDC73 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC73 were set to 12434154; 15531515 Phenotypes for gene: CDC73 were set to Hyperparathyroidism, familial primary (145000); Hyperparathyroidism-jaw tumor syndrome (145001)