| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Intellectual disability v3.1519 | CAPN15 | Ivone Leong Tag Q2_21_rating was removed from gene: CAPN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | CAPN15 | Sarah Leigh commented on gene: CAPN15 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1519 | CAPN15 |
Ivone Leong Source Expert Review Green was added to CAPN15. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| Intellectual disability v3.1120 | CAPN15 | Arina Puzriakova Classified gene: CAPN15 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1120 | CAPN15 | Arina Puzriakova Added comment: Comment on list classification: New gene added by Zornitza Stark. Sufficient number of cases presenting with DD/ID (5/7 individuals from 3 unrelated families - PMIDs: 33410501; 32885237) to warrant a Green rating on this panel. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1120 | CAPN15 | Arina Puzriakova Gene: capn15 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1119 | CAPN15 | Arina Puzriakova Tag Q2_21_rating tag was added to gene: CAPN15. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1119 | CAPN15 | Arina Puzriakova Phenotypes for gene: CAPN15 were changed from Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 to Oculogastrointestinal neurodevelopmental syndrome, OMIM:619318 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Intellectual disability v3.1069 | CAPN15 |
Zornitza Stark gene: CAPN15 was added gene: CAPN15 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: CAPN15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CAPN15 were set to 33410501; 32885237 Phenotypes for gene: CAPN15 were set to Oculogastrointestinal neurodevelopmental syndrome, MIM# 619318 Review for gene: CAPN15 was set to GREEN gene: CAPN15 was marked as current diagnostic Added comment: 5 families reported, including DD/ID in 3. Profound in one family with bi-allelic LoF variant, PMID 33410501. Sources: Literature |
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