Multiple Tumours
Gene: CDC73EnsemblGeneIds (GRCh38): ENSG00000134371
EnsemblGeneIds (GRCh37): ENSG00000134371
OMIM: 607393, Gene2Phenotype
CDC73 is in 9 panels
1 review
Ellen McDonagh (Genomics England Curator)
Information from TruSight panel: Pathogenic Mutations are Inactivating.Created: 5 Feb 2016, 11:46 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- TruSight Cancer Panel (Illumina)
- Phenotypes
-
- Hyperparathyroidism-Jaw Tumor Syndrome
- Parathyroid cancer, adenoma
- Ossifying fibroma (bone)
- Multiple endocrine tumours
- Paediatric congenital malformation-dysmorphism-tumour syndromes
- Parathyroid Cancer
- OMIM
- 607393
- Clinvar variants
- Variants in CDC73
- Penetrance
- Complete
- 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
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)CDC73 was added to Multiple Tumourspanel. Source: Expert Review Green Model of inheritance for gene CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Created
Ellen McDonagh (Genomics England Curator)CDC73 was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)CDC73 was added to Multiple Tumourspanel. Sources: TruSight Cancer Panel (Illumina)