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Hereditary diffuse gastric cancer

Gene: CDH1

Green List (high evidence)
CDH1 (cadherin 1)
EnsemblGeneIds (GRCh38): ENSG00000039068
EnsemblGeneIds (GRCh37): ENSG00000039068
OMIM: 192090, Gene2Phenotype
CDH1 is in 10 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #137215) and the OMIM record was last accessed on 17 December 2025.
Created: 17 Dec 2025, 10:34 p.m. | Last Modified: 17 Dec 2025, 10:34 p.m.
Panel Version: 2.3
Created: 17 Dec 2025, 10:34 p.m.
Last Modified: 17 Dec 2025, 10:34 p.m.
Panel version: 2.3

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown, following NHS Genomic Medicine Service approval.
Created: 31 Jan 2023, 2:48 p.m. | Last Modified: 31 Jan 2023, 2:48 p.m.
Panel Version: 0.6
Created: 31 Jan 2023, 2:48 p.m.
Last Modified: 31 Jan 2023, 2:48 p.m.
Panel version: 0.6

Eleanor Williams (Genomics England Curator)

CDH1 has been added to the panel for the clinical indication 'R215 CDH1-related cancer syndrome' with a green rating as agreed with the NHS Genomic Medicine Service.
Created: 14 Jan 2023, 9:56 p.m. | Last Modified: 14 Jan 2023, 9:56 p.m.
Panel Version: 0.3

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Created: 14 Jan 2023, 9:56 p.m.
Last Modified: 14 Jan 2023, 9:56 p.m.
Panel version: 0.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215
  • CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488
OMIM
192090
Clinvar variants
Variants in CDH1
Penetrance
None
Panels with this gene

History Filter Activity

17 Dec 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: CDH1 were changed from Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215 to Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215; CDH1-related diffuse gastric and lobular breast cancer syndrome, MONDO:0100488

4 Aug 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDH1 were changed from to Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215

14 Jan 2023, Gel status: 3

Created, Added New Source, Set mode of inheritance

Eleanor Williams (Genomics England Curator)

gene: CDH1 was added gene: CDH1 was added to CDH1-related cancer syndrome. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown