Activity
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| Intellectual disability v9.171 | ISCA-46296-Loss | Arina Puzriakova Classified Region: ISCA-46296-Loss as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.171 | ISCA-46296-Loss |
Arina Puzriakova Added comment: Comment on list classification: This region has Sufficient Evidence for Haploinsufficiency in ClinGen and should be promoted to Green at the next GMS panel update. Panel inclusion has been reviewed and approved by the Genomics England Clinical team. |
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| Intellectual disability v9.171 | ISCA-46296-Loss | Arina Puzriakova Region: isca-46296-loss has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.170 | ISCA-46296-Loss |
Arina Puzriakova Region: ISCA-46296-Loss was added Region: ISCA-46296-Loss was added to Intellectual disability. Sources: ClinGen Q3_25_promote_green tags were added to Region: ISCA-46296-Loss. Mode of inheritance for Region: ISCA-46296-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46296-Loss were set to 22180641; 19921647 Phenotypes for Region: ISCA-46296-Loss were set to Developmental delays, intellectual disability, brain anomalies, non-specific craniofacial abnormalities, hypotonia, ocular abnormalities, hearing loss, and other variable clinical features Review for Region: ISCA-46296-Loss was set to GREEN Added comment: https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46296 ClinGen review (Last Evaluated:10/24/2025): Deletion of the 15q24 LCR A-C recurrent region has been reported in at least 5 patients. The reported clinical findings include developmental delays (speech and motor), intellectual disability, brain anomalies, non-specific craniofacial abnormalities, hypotonia, ocular abnormalities, hearing loss, and other variable clinical features. In all cases where parental studies have been performed, deletions were found to be de novo. Case-control comparison studies have provided evidence for enrichment of this deletion in the clinical population, although overall numbers are somewhat limited. Sources: ClinGen |
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