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Clefting

Gene: CDH1

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

2 reviews

Ellen McDonagh (Genomics England Curator)

This gene was corrected from CHD1 to CDH1, which is associated with the phenotype provided.
Created: 8 May 2018, 5:31 p.m.
Created: 8 May 2018, 5:31 p.m.

Panel version: 1.16

Helen Brittain (Genomics England Curator)

Green List (high evidence)

Missense mutations to date
Created: 26 May 2017, 7:40 a.m.

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

Phenotypes
BLEPHAROCHEILODONTIC

Publications

Mode of pathogenicity
Other

Created: 26 May 2017, 7:40 a.m.

Panel version: 0.193

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
  • Expert Review Green
Phenotypes
  • Blepharocheilodontic syndrome 1, OMIM:119580
  • 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
Complete
Publications
Panels with this gene

History Filter Activity

4 Aug 2025, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: CDH1 were changed from BLEPHAROCHEILODONTIC; Blepharocheilodontic syndrome 1 to Blepharocheilodontic syndrome 1, OMIM:119580; Diffuse gastric and lobular breast cancer syndrome with or without cleft lip and/or palate, OMIM:137215

8 May 2018, Gel status: 4

Set penetrance, Set publications

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CDH1 were set to BLEPHAROCHEILODONTIC, Blepharocheilodontic syndrome 1 Publications for gene CDH1 was set to ['28301459', '27566442']

8 May 2018, Gel status: 4

Set penetrance

Ellen McDonagh (Genomics England Curator)

Phenotypes for gene CDH1 were set to BLEPHAROCHEILODONTIC, Blepharocheilodontic syndrome 1

8 May 2018, Gel status: 4

Changed Gene Name

Ellen McDonagh (Genomics England Curator)

CHD1 was changed to CDH1

8 May 2018, Gel status: 4

Added New Source, Set penetrance

Ellen McDonagh (Genomics England Curator)

Other was added to CHD1. Panel: Clefting Phenotypes for gene CHD1 were set to BLEPHAROCHEILODONTIC

31 May 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

26 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

CHD1 was created by ellenmcdonagh

26 May 2017, Gel status: 4

Added New Source

Ellen McDonagh (Genomics England Curator)

CHD1 was added to Cleftingpanel. Sources: Expert Review Green