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  3. CDON
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Pituitary hormone deficiency

Gene: CDON

Amber List (moderate evidence)
CDON (cell adhesion associated, oncogene regulated)
EnsemblGeneIds (GRCh38): ENSG00000064309
EnsemblGeneIds (GRCh37): ENSG00000064309
OMIM: 608707, Gene2Phenotype
CDON is in 7 panels

1 review

Ivone Leong (Genomics England Curator)

Comment on list classification: Promoted from red to amber. CDON is confirmed to be associated with Holoprosencephaly 11 in OMIM and Gene2Phenotype. There are 2 unrelated cases of patients with holoprosencephaly with LOF CDON variants with pituitary hormone deficiency.
Created: 12 Dec 2018, 2:16 p.m.
Created: 12 Dec 2018, 2:16 p.m.

Panel version: 0.43

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center
Phenotypes
  • Holoprosencephaly 11 (614226)
Tags
watchlist
OMIM
608707
Clinvar variants
Variants in CDON
Penetrance
None
Publications
Panels with this gene

History Filter Activity

30 Jan 2019, Gel status: 2

Panel promoted to version 1.0

Ivone Leong (Genomics England Curator)

Ivone Leong: Comment on list classification

8 Jan 2019, Gel status: 2

Added Tag

Ivone Leong (Genomics England Curator)

Tag watchlist tag was added to gene: CDON.

8 Jan 2019, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

12 Dec 2018, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

12 Dec 2018, Gel status: 1

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: CDON were set to

7 Dec 2018, Gel status: 1

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

Ivone Leong (Genomics England Curator)

gene: CDON was added gene: CDON was added to Pituitary hormone deficiency. Sources: Radboud University Medical Center,Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)