Holoprosencephaly - NOT chromosomal
Gene: CDONEnsemblGeneIds (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 GreenCreated: 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 )
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
-
- NHS GMS
- 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
Added New Source
Louise Daugherty (Genomics England Curator)Source NHS GMS was added to CDON.
panel promoted to version 1
Helen Brittain (Genomics England Curator)Promoted to version one after review within the genomics England curation team.
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for CDON were set to Holoprosencephaly 11, 614226; Holoprosencephaly
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Set publications
Helen Brittain (Genomics England Curator)Publications for CDON were set to 21802063
Gene classified by Genomics England curator
Helen Brittain (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Added New Source
Olivia Niblock (Genomics England Curator)CDON was added to Holoprosencephalypanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Olivia Niblock (Genomics England Curator)CDON was added to Holoprosencephalypanel. Sources: Radboud University Medical Center, Nijmegen
Created
Olivia Niblock (Genomics England Curator)CDON was created by oniblock