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| DDG2P v3.12 | STT3A | Achchuthan Shanmugasundram reviewed gene: STT3A: Rating: GREEN; Mode of pathogenicity: Other; Publications: 23842455, 34653363; Phenotypes: CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW, OMIM:615596, STT3A-related type I congenital disorder of glycosylation with neuromusculoskeletal disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | STT3A |
Achchuthan Shanmugasundram Source Expert Review Green was added to STT3A. Mode of inheritance for gene STT3A was changed from BIALLELIC, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Mode of pathogenicity for gene STT3A was changed from Other - please provide details in the comments to Other Publications for gene: STT3A were updated from 23842455 to 23842455; 34653363 Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v0.2 | STT3A | Rebecca Foulger reviewed gene: STT3A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | STT3A |
Rebecca Foulger gene: STT3A was added gene: STT3A was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype Mode of inheritance for gene: STT3A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: STT3A were set to 23842455 Phenotypes for gene: STT3A were set to CONGENITAL DISORDER OF GLYCOSYLATION, TYPE IW 615596 Mode of pathogenicity for gene: STT3A was set to Other - please provide details in the comments |
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