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| 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 v3.1520 | ISCA-37390-Loss | Ivone Leong commented on Region: ISCA-37390-Loss | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1520 | ISCA-37390-Loss | Arina Puzriakova Required Overlap Percentage for ISCA-37390-Loss was changed from 80 to 60. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v2.398 | ISCA-37390-Loss |
Louise Daugherty Region: ISCA-37390-Loss was added Region: ISCA-37390-Loss was added to Intellectual disability. Sources: ClinGen,Expert Review Green Mode of inheritance for Region: ISCA-37390-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-37390-Loss were set to 11238681; 15635506 Phenotypes for Region: ISCA-37390-Loss were set to 123450; PMID 15635506: characteristic cry, speech delay, facial dysmorphology, and level of mental retardation. PMID 11238681: interstitial deletions and one with a small terminal deletion confirmed the existence of two critical regions, one for dysmorphism and mental retardation in p15.2 and the other for the cat cry in p15.3. Results from one patient permitted the cat cry region to be distally narrowed from D5S13 to D5S731, study supports hypothesis of a separate region in p15.3 for the speech delay |
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