Holoprosencephaly

Gene: CDON

Green List (high evidence)

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

3 reviews

Louise Daugherty (Genomics England Curator)

As discussed with the GMS Neurology Specialist Test Group webex call 11th July 2019: The Specialist Test Group all agreed that there is enough evidence to rate this gene Green
Created: 29 Jul 2019, 2:12 p.m. | Last Modified: 29 Jul 2019, 2:12 p.m.
Panel Version: 1.20

Helen Brittain (Genomics England Curator)

Comment when marking as ready: 4 unrelated cases to date. Considered sufficient evidence.
Created: 30 May 2017, 2:55 p.m.
Comment on list classification: 4 cases, although from a single paper. All missense mutations to date, one proven de novo. Paper reports functional evidence of interaction with SHH.
Created: 30 May 2017, 2:55 p.m.

Lara Menzies (Great Ormond Street Hospital )

I don't know

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

Phenotypes
Holoprosencephaly 11; Holoprosencephaly

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • Illumina TruGenome Clinical Sequencing Services
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Holoprosencephaly 11, 614226
  • Holoprosencephaly
OMIM
608707
Clinvar variants
Variants in CDON
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

29 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to CDON.

31 May 2017, Gel status: 4

panel promoted to version 1

Helen Brittain (Genomics England Curator)

Promoted to version one after review within the genomics England curation team.

31 May 2017, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for CDON were set to Holoprosencephaly 11, 614226; Holoprosencephaly

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

30 May 2017, Gel status: 4

Set publications

Helen Brittain (Genomics England Curator)

Publications for CDON were set to 21802063

30 May 2017, Gel status: 4

Gene classified by Genomics England curator

Helen Brittain (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

9 Dec 2016, Gel status: 2

Added New Source

Olivia Niblock (Genomics England Curator)

CDON was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services

9 Dec 2016, Gel status: 1

Added New Source

Olivia Niblock (Genomics England Curator)

CDON was added to Holoprosencephalypanel. Sources: Radboud University Medical Center, Nijmegen

9 Dec 2016, Gel status: 0

Created

Olivia Niblock (Genomics England Curator)

CDON was created by oniblock