Inherited parathyroid cancer
Gene: CDC73EnsemblGeneIds (GRCh38): ENSG00000134371
EnsemblGeneIds (GRCh37): ENSG00000134371
OMIM: 607393, Gene2Phenotype
CDC73 is in 9 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #145001 & #608266) and the OMIM records were last accessed on 20 December 2025.Created: 20 Dec 2025, 6:28 p.m. | Last Modified: 20 Dec 2025, 6:28 p.m.
Panel Version: 1.2
CDC73 has been added to the panel for R226 Inherited parathyroid cancer with a green rating as agreed with the NHS Genomic Medicine Service.Created: 30 Jun 2023, 1:42 p.m. | Last Modified: 30 Jun 2023, 1:42 p.m.
Panel Version: 0.1
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Hyperparathyroidism-jaw tumor syndrome, OMIM:145001
- Parathyroid adenoma with cystic changes, OMIM:145001
- Parathyroid carcinoma, OMIM:608266
- parathyroid gland carcinoma, MONDO:0012004
- OMIM
- 607393
- Clinvar variants
- Variants in CDC73
- Penetrance
- None
- Panels with this gene
-
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Inherited parathyroid cancer
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Parathyroid Cancer
- Multiple endocrine tumours
- Endocrine neoplasia
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
History Filter Activity
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumor syndrome, OMIM:145001; Parathyroid adenoma with cystic changes, OMIM:145001; Parathyroid carcinoma, OMIM:608266; parathyroid gland carcinoma, MONDO:0012004
Created, Added New Source, Set mode of inheritance
Achchuthan Shanmugasundram (Genomics England Curator)gene: CDC73 was added gene: CDC73 was added to Inherited parathyroid cancer. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown