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  3. CDC73
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Hypercalcaemia

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

1 review

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: 0.22

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • 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

5 Apr 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdc73 has been classified as Green List (High Evidence).

5 Apr 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDC73 were changed from to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000

5 Apr 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: CDC73 were set to

5 Apr 2021, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: CDC73 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDC73 was added gene: CDC73 was added to Hypercalcaemia_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: CDC73 was set to Unknown