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| DDG2P v3.12 | SCRIB | Achchuthan Shanmugasundram reviewed gene: SCRIB: Rating: RED; Mode of pathogenicity: ; Publications: 24140112; Phenotypes: 8Q24.3 DELETION-LIKE; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.73 | ACO2 |
Sarah Leigh commented on gene: ACO2: New paper (34056600) describing ACO2 as a cause of autosomal dominant optic atrophy - update of inheritance needed. Tom Cullup (Great Ormond Street Hospital), 17 Feb 2022 |
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| DDG2P v0.2 | SCRIB | Rebecca Foulger reviewed gene: SCRIB: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCRIB |
Rebecca Foulger gene: SCRIB was added gene: SCRIB was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: SCRIB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SCRIB were set to 24140112 Phenotypes for gene: SCRIB were set to 8Q24.3 DELETION-LIKE |
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