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| DDG2P v4.10 | SCAPER | Achchuthan Shanmugasundram edited their review of gene: SCAPER: Added comment: The DDG2P confidence category for the disease SCAPER-related neurodevelopmental disorder and retinitis pigmentosa is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product;altered gene product structure;decreased gene product level (PMID: 28041643;28794130;31069901;21937992;31192531;30561111;30723319;37160720;29302074).; Changed rating: GREEN; Changed publications to: 37160720, 28794130, 29302074, 31069901, 28041643, 30561111, 30723319, 21937992, 31192531; Changed phenotypes to: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER, SCAPER-related neurodevelopmental disorder and retinitis pigmentosa | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v4.9 | SCAPER |
Achchuthan Shanmugasundram Source Expert Review Green was added to SCAPER. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | SCAPER | Achchuthan Shanmugasundram reviewed gene: SCAPER: Rating: RED; Mode of pathogenicity: ; Publications: 21937992; Phenotypes: AUTOSOMAL RECESSIVE INTELLECTUAL DEVELOPMENTAL DISORDER; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SCAPER | Rebecca Foulger reviewed gene: SCAPER: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCAPER |
Rebecca Foulger gene: SCAPER was added gene: SCAPER was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SCAPER was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCAPER were set to 21937992 Phenotypes for gene: SCAPER were set to AUTOSOMAL RECESSIVE MENTAL RETARDATION |
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