| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Structural eye disease v1.113 | CDON |
Ivone Leong Tag for-review was removed from gene: CDON. Tag Q1_22_NHS_review was removed from gene: CDON. |
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| Structural eye disease v1.113 | CDON | Ivone Leong commented on gene: CDON: The rating of this gene has been updated following NHS Genomic Medicine Service approval. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.112 | CDON |
Ivone Leong Source Expert Review Green was added to CDON. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Structural eye disease v1.106 | CDON | Ivone Leong Tag Q1_22_NHS_review tag was added to gene: CDON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.101 | CDON | Nicola Ragge edited their review of gene: CDON: Added comment: 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 coloboma; Changed publications to: 32729136, 31502381, 19754878 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.36 | CDON | Ivone Leong Classified gene: CDON as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.36 | CDON | Ivone Leong Added comment: 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. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.36 | CDON | Ivone Leong Gene: cdon has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.35 | CDON | Ivone Leong Tag for-review tag was added to gene: CDON. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.29 | CDON | Nicola Ragge reviewed gene: CDON: Rating: GREEN; Mode of pathogenicity: ; Publications: 32729136, 31502381, 31502381, 19754878; Phenotypes: Holoprosencephaly 11, MIM:614226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.28 | CDON |
Ivone Leong 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 |
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