Structural eye disease
Gene: CDONThe 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
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
Tag for-review was removed from gene: CDON. Tag Q1_22_NHS_review was removed from gene: CDON.
Source Expert Review Green was added to CDON. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Tag Q1_22_NHS_review tag was added to gene: CDON.
Gene: cdon has been classified as Amber List (Moderate Evidence).
Tag for-review tag was added to gene: CDON.
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