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  2. Renal Tubulopathies and related disorders
  3. CDC73
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Renal Tubulopathies and related disorders

Gene: CDC73

Green List (high evidence)
CDC73 (cell division cycle 73)
EnsemblGeneIds (GRCh38): ENSG00000134371
EnsemblGeneIds (GRCh37): ENSG00000134371
OMIM: 607393, Gene2Phenotype
CDC73 is in 7 panels

2 reviews

Ain Roesley (Victorian Clinical Genetics Services)

Green List (high evidence)

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

Created: 18 Apr 2022, 11:05 p.m.
Last Modified: 18 Apr 2022, 11:05 p.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Mendeliome panel version 0.13027

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

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

Created: 5 Apr 2021, 11:13 a.m.
Last Modified: 5 Apr 2021, 11:13 a.m.
Panel version: Imported from Calcium and Phosphate disorders panel version Imported from Hypercalcaemia panel version 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Expert Review Green
  • Expert Review Green
  • Expert Review Green
  • KidGen_CalcPhos v38.1.0
  • Victorian Clinical Genetics Services
Phenotypes
  • Hyperparathyroidism-jaw tumour syndrome, MIM# 145001
  • Hyperparathyroidism, familial primary, MIM# 145000
OMIM
607393
Clinvar variants
Variants in CDC73
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Dec 2022, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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