Activity
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| Intellectual disability v7.23 | CTNND2 | Arina Puzriakova Classified gene: CTNND2 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v7.23 | CTNND2 |
Arina Puzriakova Added comment: Comment on list classification: Upgraded from Red to Amber following discussion with the Genomics England clinical team. There are multiple papers and cases in decipher of patients with intragenic deletions in CTNND2; however, almost all have mild or borderline ID (often isolated). Some variants are inherited from parents with mildly low/normal IQ. Deletion size is thought to correlate with severity of mental impairment. Rationale for upgrading to Amber, is that smaller intragenic deletions in CTNND2 would not be picked up the region that encompasses this gene (ISCA-37390-Loss) as they fall below the 60% overlap threshold. However, mild ID is not within the scope of the panel and the only cases with SNVs have a slightly different phenotype (myoclonus, but they were missense and could be acting in a different mechanism). This gene has recently been signed off for GMS use via the DDG2P panel (v4.8) meaning it will be applied to any patients referred under the R27 Paediatric disorders super panel. |
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| Intellectual disability v7.23 | CTNND2 | Arina Puzriakova Gene: ctnnd2 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.465 | CTNND2 | Arina Puzriakova commented on gene: CTNND2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.465 | CTNND2 | Arina Puzriakova Phenotypes for gene: CTNND2 were changed from to CTNND2-related neurodevelopmental disorder | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v5.464 | CTNND2 | Arina Puzriakova Mode of inheritance for gene: CTNND2 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.468 | CTNND2 |
Louise Daugherty gene: CTNND2 was added gene: CTNND2 was added to Intellectual disability. Sources: Victorian Clinical Genetics Services Mode of inheritance for gene: CTNND2 was set to |
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