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  3. CDC73
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Familial hyperparathyroidism or hypocalciuric hypercalcaemia

Gene: CDC73

Green List (high evidence)
CDC73 (cell division cycle 73)
EnsemblGeneIds (GRCh38): ENSG00000134371
EnsemblGeneIds (GRCh37): ENSG00000134371
OMIM: 607393, Gene2Phenotype
CDC73 is in 9 panels

2 reviews

Treena Cranston (Oxford)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Familial isolated hyperparathyroidism; Hyperparathyroidism Jaw Tumour syndrome

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 9 Jan 2019, 4:39 p.m.

Panel version: 0.11

Ivone Leong (Genomics England Curator)

As discussed in the GMS Endocrinology Specialist Test Group webex call 28th Jan 2019: The Specialist Test Group agreed that there is enough evidence to rate this gene green.
Created: 29 Jan 2019, 11:51 a.m.
CDC73 is confirmed to be associated with Familial hyperparathyroidism in OMIM and associated with Hyperparathyroidism-jaw tumor syndrome in OMIM and Gene2Phenotype. CDC73 is a green gene in the Parathyroid cancer panel (Version 1.3) and Endocrine neoplasia panel (Version 1.7). There are >3 cases of unrelated patients with Familial primary hyperparathyroidism and Hyperparathyroidism-jaw tumor syndrome who have variants in CDC73 on OMIM.
Created: 5 Dec 2018, 2:16 p.m.
Created: 5 Dec 2018, 2:16 p.m.

Panel version: 0.28

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
Phenotypes
  • Hyperparathyroidism, familial primary (145000)
  • Hyperparathyroidism-jaw tumor syndrome (145001)
OMIM
607393
Clinvar variants
Variants in CDC73
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: CDC73 is confirmed to be assoc

10 Jan 2019, Gel status: 4

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CDC73 were set to 12434154; 15531515

8 Jan 2019, Gel status: 4

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

5 Dec 2018, Gel status: 4

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

Ivone Leong (Genomics England Curator)

gene: CDC73 was added gene: CDC73 was added to Familial hyperparathyroidism. Sources: Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDC73 were set to 12434154; 15531515 Phenotypes for gene: CDC73 were set to Hyperparathyroidism, familial primary (145000); Hyperparathyroidism-jaw tumor syndrome (145001)