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  2. Parathyroid Tumour
  3. CDC73
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Parathyroid Tumour

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

Chirag Patel (Genetic Health Queensland)

Green List (high evidence)

ClinGen definitive. Parathyroid neoplasm reported in condition.
Sources: Expert list, Expert Review
Created: 12 Sep 2024, 5:23 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 2 with jaw tumors, MONDO:0007768; Hyperparathyroidism-jaw tumor syndrome, MIM#145001; Hyperparathyroidism, familial primary, MIM#145000

Created: 12 Sep 2024, 5:23 a.m.

Panel version: 0.5

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Expert Review
  • Expert list
Phenotypes
  • Tumor of parathyroid gland, MONDO:0021360
  • Hyperparathyroidism 2 with jaw tumors, MONDO:0007768
  • Hyperparathyroidism-jaw tumor syndrome, MIM#145001
  • Hyperparathyroidism, familial primary, MIM#145000
OMIM
607393
Clinvar variants
Variants in CDC73
Penetrance
None
Panels with this gene

History Filter Activity

12 Sep 2024, 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).

12 Sep 2024, Gel status: 3

Entity classified by Genomics England curator

Chirag Patel (Genetic Health Queensland)

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

12 Sep 2024, Gel status: 1

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

Chirag Patel (Genetic Health Queensland)

gene: CDC73 was added gene: CDC73 was added to Parathyroid Neoplasm. Sources: Expert list,Expert Review Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDC73 were set to Tumor of parathyroid gland, MONDO:0021360; Hyperparathyroidism 2 with jaw tumors, MONDO:0007768; Hyperparathyroidism-jaw tumor syndrome, MIM#145001; Hyperparathyroidism, familial primary, MIM#145000 Review for gene: CDC73 was set to GREEN