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  2. Anophthalmia_Microphthalmia_Coloboma
  3. CDH4
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Anophthalmia_Microphthalmia_Coloboma

Gene: CDH4

Red List (low evidence)
CDH4 (cadherin 4)
EnsemblGeneIds (GRCh38): ENSG00000179242
EnsemblGeneIds (GRCh37): ENSG00000179242
OMIM: 603006, Gene2Phenotype
CDH4 is in 2 panels

1 review

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

1x family with AD coloboma

Also presented with ID and post natal microcephaly

zebrafish KO model
Sources: Literature
Created: 5 May 2022, 1:55 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
coloboma MONDO#0001476, CDH4-related

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 5 May 2022, 1:55 a.m.

Panel version: 1.21

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Literature
Phenotypes
  • coloboma MONDO#0001476, CDH4-related
OMIM
603006
Clinvar variants
Variants in CDH4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

5 May 2022, Gel status: 1

Entity classified by Genomics England curator

Ain Roesley (Victorian Clinical Genetics Services)

Gene: cdh4 has been classified as Red List (Low Evidence).

5 May 2022, Gel status: 1

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

Ain Roesley (Victorian Clinical Genetics Services)

gene: CDH4 was added gene: CDH4 was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: CDH4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CDH4 were set to 35034853 Phenotypes for gene: CDH4 were set to coloboma MONDO#0001476, CDH4-related Review for gene: CDH4 was set to RED gene: CDH4 was marked as current diagnostic