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| Structural eye disease v1.113 | CDH2 | Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.113 | CDH2 | Ivone Leong Tag for-review was removed from gene: CDH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.113 | CDH2 | Ivone Leong commented on gene: CDH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.17 | CDH2 | Arina Puzriakova Classified gene: CDH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.17 | CDH2 | Arina Puzriakova Added comment: Comment on list classification: Gene added following discussion with Helen Brittain (Genomics England Clinical Team) who indicated this panel may be applicable in view of the ocular abnormalities observed in some individuals with CDH2 variants. However, as the eye phenotypes were diverse, this warrants phenotypic consideration by the GMS team to assess the relevance to this panel (added 'for-review' tag) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.17 | CDH2 | Arina Puzriakova Gene: cdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v1.16 | CDH2 |
Arina Puzriakova gene: CDH2 was added gene: CDH2 was added to Structural eye disease. Sources: Literature for-review tags were added to gene: CDH2. Mode of inheritance for gene: CDH2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CDH2 were set to 31585109; 31650526 Phenotypes for gene: CDH2 were set to Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, OMIM:618929; Agenesis of corpus callosum, cardiac, ocular, and genital syndrome, MONDO:0030065 Review for gene: CDH2 was set to AMBER Added comment: Associated with relevant phenotype in OMIM, and is a 'probable' gene for 'Syndromic Neurodevelopmental Disorder with Corpus Collosum, Axon, Cardiac, Ocular, and Genital Defects' in Gene2Phenotype. 2 papers (PMID: 31585109 and 31650526) describing 13 unrelated individuals with a neurodevelopmental disorder and variants in the CDH2 gene. Clinical features include GDD/ID (10/12), brain malformations - particularly agenesis of corpus callosum (11/13), cardiovascular abnormalities (9/13), and various ocular abnormalities (11/13). Eye phenotype was variable and includes Peters anomaly, glaucoma, cataract, Duane anomaly, strabismus. Cdh2 knockout in mice is embryonically lethal. Conditional inactivation of Cdh2 in the cerebral cortex leads to cortical disorganisation and CCA similar to the human phenotypes (PMIDs: 9015265, 17222817). Sources: Literature |
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| Structural eye disease v0.76 | CDH23 | Nicola Ragge reviewed gene: CDH23: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1D, 601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.38 | CDH23 | Ivone Leong reviewed gene: CDH23: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: Usher syndrome, type 1D, 601067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Structural eye disease v0.15 | CDH23 |
Ivone Leong Source NHS GMS was added to CDH23. Mode of inheritance for gene CDH23 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Usher syndrome, type 1D, 601067 for gene: CDH23 |
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| Structural eye disease v0.2 | CDH23 |
Ellen McDonagh gene: CDH23 was added gene: CDH23 was added to Structural eye disease. Sources: Expert Review Red Mode of inheritance for gene: CDH23 was set to Phenotypes for gene: CDH23 were set to Eye Disorders |
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