Adult solid tumours for rare disease
Gene: CDH1EnsemblGeneIds (GRCh38): ENSG00000039068
EnsemblGeneIds (GRCh37): ENSG00000039068
OMIM: 192090, Gene2Phenotype
CDH1 is in 10 panels
1 review
Clare Turnbull (Queen Mary University London)
Tumor Suppressor.Created: 5 Jul 2017, 12:19 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- Expert Review Green
- Phenotypes
-
- Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
- OMIM
- 192090
- Clinvar variants
- Variants in CDH1
- Penetrance
- None
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: CDH1 were changed from Hereditary Diffuse Gastric Cancer, Familial Lobular Breast Cancer to Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)5th March 2018 - promoted to version 1 after expert review and internal clinical review.
Added New Source
Ellen McDonagh (Genomics England Curator)CDH1 was added to Adult solid tumours for rare disease panel. Sources: Expert Review Green,Expert list
Created
Ellen McDonagh (Genomics England Curator)CDH1 was created by Ellen McDonagh