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| DDG2P v3.12 | SERAC1 | Achchuthan Shanmugasundram reviewed gene: SERAC1: Rating: GREEN; Mode of pathogenicity: ; Publications: 32346411, 27186703, 28505671, 27331002, 28778788, 28916646, 34326751, 23707711, 29205472, 31251474, 33613893; Phenotypes: 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | RAC1 | Achchuthan Shanmugasundram reviewed gene: RAC1: Rating: GREEN; Mode of pathogenicity: Other; Publications: 35139179, 28886345; Phenotypes: RAC1-related neurodevelopmental disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SERAC1 |
Achchuthan Shanmugasundram gene: SERAC1 was added gene: SERAC1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SERAC1 were set to 32346411; 27186703; 28505671; 27331002; 28778788; 28916646; 34326751; 23707711; 29205472; 31251474; 33613893 Phenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, OMIM:614739 |
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| DDG2P v3.11 | RAC1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to RAC1. Mode of pathogenicity for gene RAC1 was changed from Other - please provide details in the comments to Other Publications for gene: RAC1 were updated from 28886345 to 35139179; 28886345 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | RAC1 | Rebecca Foulger reviewed gene: RAC1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | RAC1 |
Rebecca Foulger gene: RAC1 was added gene: RAC1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: RAC1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: RAC1 were set to 28886345 Phenotypes for gene: RAC1 were set to Developmental Disorders with Diverse Phenotypes Mode of pathogenicity for gene: RAC1 was set to Other - please provide details in the comments |
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