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  2. Anophthalmia_Microphthalmia_Coloboma
  3. CDON
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Anophthalmia_Microphthalmia_Coloboma

Gene: CDON

Amber List (moderate evidence)
CDON (cell adhesion associated, oncogene regulated)
EnsemblGeneIds (GRCh38): ENSG00000064309
EnsemblGeneIds (GRCh37): ENSG00000064309
OMIM: 608707, Gene2Phenotype
CDON is in 9 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

I don't know

Isolated example of chet (both splice) siblings with isolated coloboma. Parents were normal.
Supported by mouse model.
Reviews a hom patient (PTC) in another case also with retinal coloboma, dev delay, dysmorphic features and an additional hom MAPRE2 variant (gene has not be associated to coloboma)
Sources: Literature
Created: 17 Dec 2020, 1:13 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Holoprosencephaly 11 MIM#614226

Publications

Created: 17 Dec 2020, 1:13 a.m.

Panel version: 0.74

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • Literature
Phenotypes
  • Coloboma
OMIM
608707
Clinvar variants
Variants in CDON
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Apr 2021, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: CDON were changed from Holoprosencephaly 11 MIM#614226 to Coloboma

17 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdon has been classified as Amber List (Moderate Evidence).

17 Dec 2020, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: cdon has been classified as Amber List (Moderate Evidence).

17 Dec 2020, Gel status: 0

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

Elena Savva (Victorian Clinical Genetics Services)

gene: CDON was added gene: CDON was added to Anophthalmia_Microphthalmia_Coloboma. Sources: Literature Mode of inheritance for gene: CDON was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDON were set to PMID: 32729136 Phenotypes for gene: CDON were set to Holoprosencephaly 11 MIM#614226 Review for gene: CDON was set to AMBER