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| DDG2P v3.82 | CAPRIN1 | Arina Puzriakova Added comment: Comment on phenotypes: Gene-checked tag removed as this gene now has a relevant phenotype listed in OMIM (Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.82 | CAPRIN1 | Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.81 | CAPRIN1 | Arina Puzriakova Phenotypes for gene: CAPRIN1 were changed from AUTISM OR INTELLECTUAL DISABILITY to Neurodegeneration, childhood-onset, with cerebellar ataxia and cognitive decline, OMIM:620636 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.80 | CAPRIN1 | Arina Puzriakova Tag gene-checked was removed from gene: CAPRIN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | CAPRIN1 | Eleanor Williams Tag gene-checked tag was added to gene: CAPRIN1. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.73 | CAPRIN1 | Eleanor Williams commented on gene: CAPRIN1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | CAPRIN1 | Achchuthan Shanmugasundram reviewed gene: CAPRIN1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23849776, 35979925; Phenotypes: CAPRIN1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CAPRIN1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to CAPRIN1. Mode of pathogenicity for gene CAPRIN1 was changed from to Other Publications for gene: CAPRIN1 were updated from 23849776 to 23849776; 35979925 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | CAPRIN1 | Rebecca Foulger reviewed gene: CAPRIN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CAPRIN1 |
Rebecca Foulger gene: CAPRIN1 was added gene: CAPRIN1 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: CAPRIN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: CAPRIN1 were set to 23849776 Phenotypes for gene: CAPRIN1 were set to AUTISM OR INTELLECTUAL DISABILITY |
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