Endocrine neoplasia
Gene: CDC73EnsemblGeneIds (GRCh38): ENSG00000134371
EnsemblGeneIds (GRCh37): ENSG00000134371
OMIM: 607393, Gene2Phenotype
CDC73 is in 9 panels
5 reviews
Ivone Leong (Genomics England Curator)
Comment when marking as ready: 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: 11 Mar 2019, 2:04 p.m.
Sian Ellard (University of Exeter Medical School)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Louise IZATT (GSTT Clinical Genetics Service)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Katie Snape (South London GMC)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Ellen McDonagh (Genomics England Curator)
Comment on list classification: Three reviewers agree this gene should be promoted from red to green.Created: 1 Feb 2016, 12:43 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Endocrine Cancer
- OMIM
- 607393
- Clinvar variants
- Variants in CDC73
- Penetrance
- None
- Panels with this gene
-
- Childhood solid tumours
- Adult solid tumours for rare disease
- Inherited phaeochromocytoma and paraganglioma
- Inherited parathyroid cancer
- Adult solid tumours cancer susceptibility
- Parathyroid Cancer
- Multiple endocrine tumours
- Endocrine neoplasia
- Familial hyperparathyroidism or hypocalciuric hypercalcaemia
History Filter Activity
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdc73 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CDC73 was added gene: CDC73 was added to Endocrine neoplasms. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: CDC73 were set to Endocrine Cancer