Renal Tubulopathies and related disorders
Gene: CDC73
Well established gene-disease association. Somatic variants associated with parathyroid adenomas and carcinomas.Created: 18 Apr 2022, 11:05 p.m. | Last Modified: 18 Apr 2022, 11:05 p.m.
Panel Version: 0.13027
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Publications
Variants in this GENE are reported as part of current diagnostic practice
Well established gene-disease association. Somatic variants associated with parathyroid adenomas and carcinomas.Created: 5 Apr 2021, 11:13 a.m. | Last Modified: 5 Apr 2021, 11:13 a.m.
Panel Version: 0.22
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000
Publications
gene: CDC73 was added gene: CDC73 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDC73 were set to 12434154 Phenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000