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| Paediatric disorders - additional genes v1.96 | CDH2 | Arina Puzriakova Tag for-review was removed from gene: CDH2. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.96 | CDH2 | Sarah Leigh commented on gene: CDH2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.95 | CDH2 |
Arina Puzriakova Source Expert Review Green was added to CDH2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Paediatric disorders - additional genes v1.67 | CDH2 | Arina Puzriakova Classified gene: CDH2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.67 | CDH2 |
Arina Puzriakova Added comment: Comment on list classification: Gene added following discussion with Helen Brittain (Genomics England Clinical Team) who indicated this panel is relevant in view of the multiple congenital malformations associated with CDH2 variants. Tagged 'for-review' as there is sufficient evidence to rate this gene Green at the next GMS panel update. |
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| Paediatric disorders - additional genes v1.67 | CDH2 | Arina Puzriakova Gene: cdh2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Paediatric disorders - additional genes v1.66 | CDH2 |
Arina Puzriakova gene: CDH2 was added gene: CDH2 was added to Paediatric disorders - additional genes. 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 GREEN 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 eye abnormalities (11/13). 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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