Activity
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| Intellectual disability v9.392 | ISCA-46297-Loss | Arina Puzriakova edited their review of Region: ISCA-46297-Loss: Changed rating: RED | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.392 | ISCA-46297-Loss | Arina Puzriakova Tag Q2_26_demote_red tag was added to Region: ISCA-46297-Loss. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v9.392 | ISCA-46297-Loss |
Arina Puzriakova commented on Region: ISCA-46297-Loss: This region should be demoted from green to red at the next GMS panel update. ClinGen summary states that heterozygous deletions of this region are not dosage sensitive (https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-46297). Homozygous distal 16p12.2 deletions, encompassing the OTOA gene, are associated with autosomal recessive deafness-22 (PMID: 19888295; 31204719; 39916398) 16p12.2 proximal deletions (distinct genomic coordinates) have been linked to neurodevelopmental phenotypes (PMID: 20154674; 25719193; 30836598; 30190612), however the evidence is classified as 'emerging' in ClinGen and is insufficient to add to diagnostic GMS panels at this time (https://search.clinicalgenome.org/kb/gene-dosage/region/ISCA-37409). |
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| Intellectual disability v4.54 | ISCA-46297-Loss | Arina Puzriakova reviewed Region: ISCA-46297-Loss: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v4.54 | ISCA-46297-Loss |
Arina Puzriakova Region: ISCA-46297-Loss was added Region: ISCA-46297-Loss was added to Intellectual disability. Sources: Expert Review Green,ClinGen Mode of inheritance for Region: ISCA-46297-Loss was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for Region: ISCA-46297-Loss were set to 31204719; 19888295; 20301607; 25719193; 30836598 |
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