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Intellectual disability syndromic and non-syndromic

Gene: CDH2

Green List (high evidence)

CDH2 (cadherin 2)
EnsemblGeneIds (GRCh38): ENSG00000170558
EnsemblGeneIds (GRCh37): ENSG00000170558
OMIM: 114020, Gene2Phenotype
CDH2 is in 6 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nine unrelated individuals reported with de novo variants in this gene.
Sources: Literature
Created: 21 Jan 2020, 5:48 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Intellectual disability
  • corpus callosum abnormalities
  • congenital abnormalities
  • Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929
OMIM
114020
Clinvar variants
Variants in CDH2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Jun 2020, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDH2 were changed from Intellectual disability; corpus callosum abnormalities; congenital abnormalities to Intellectual disability; corpus callosum abnormalities; congenital abnormalities; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MIM# 618929

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh2 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdh2 has been classified as Green List (High Evidence).

21 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: CDH2 was added gene: CDH2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDH2 were set to 31585109 Phenotypes for gene: CDH2 were set to Intellectual disability; corpus callosum abnormalities; congenital abnormalities Review for gene: CDH2 was set to GREEN