Structural eye disease
Gene: CDONEnsemblGeneIds (GRCh38): ENSG00000064309
EnsemblGeneIds (GRCh37): ENSG00000064309
OMIM: 608707, Gene2Phenotype
CDON is in 7 panels
2 reviews
Ivone Leong (Genomics England Curator)
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 10:32 a.m. | Last Modified: 8 Mar 2022, 10:32 a.m.
Panel Version: 1.113
Comment on list classification: New gene added by Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust). This gene should be promoted from Amber to Green at the next review.Created: 20 Jan 2021, 10:44 a.m. | Last Modified: 20 Jan 2021, 10:44 a.m.
Panel Version: 1.36
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
Reis et al. 2020: one family with compound het splice variants; Islam et al. 2020 one family with homozygous stopgain variant segregating in parents; Berkun et al. 2019 one family with homozygous stopgain. ; Zhang et al. 2009 demonstrated that Cdo -/- mice have colobomaCreated: 20 Jan 2022, 11:38 a.m. | Last Modified: 20 Jan 2022, 11:38 a.m.
Panel Version: 1.101
Reis et al. 2020: one family with compound het splice variants; Islam et al. 2020 one family with homozygous stopgain variant segregating in parents; Berkun et al. 2019 one family with homozygous stopgain. ; Zhang et al. 2009 demonstrated that Cdo -/- mice have colobomaCreated: 20 Jan 2021, 10:29 a.m. | Last Modified: 20 Jan 2021, 10:29 a.m.
Panel Version: 1.29
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Holoprosencephaly 11, MIM:614226
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Expert list
- Phenotypes
-
- Holoprosencephaly 11, OMIM:614226, MONDO:0013642
- OMIM
- 608707
- Clinvar variants
- Variants in CDON
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Removed Tag, Removed Tag
Ivone Leong (Genomics England Curator)Tag for-review was removed from gene: CDON. Tag Q1_22_NHS_review was removed from gene: CDON.
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Green was added to CDON. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Added Tag
Ivone Leong (Genomics England Curator)Tag Q1_22_NHS_review tag was added to gene: CDON.
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: cdon has been classified as Amber List (Moderate Evidence).
Added Tag
Ivone Leong (Genomics England Curator)Tag for-review tag was added to gene: CDON.
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: CDON was added gene: CDON was added to Structural eye disease. Sources: Expert list Mode of inheritance for gene: CDON was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CDON were set to 31502381; 19754878; 32729136 Phenotypes for gene: CDON were set to Holoprosencephaly 11, OMIM:614226, MONDO:0013642