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| DDG2P v3.12 | MAT1A | Achchuthan Shanmugasundram reviewed gene: MAT1A: Rating: GREEN; Mode of pathogenicity: ; Publications: 7560086, 4421454, 3812486, 8770875, 1527987, 7229751, 1683972, 10677294; Phenotypes: METHIONINE ADENOSYLTRANSFERASE DEFICIENCY, OMIM:250850; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAT1A |
Achchuthan Shanmugasundram Source Expert Review Green was added to MAT1A. Publications for gene: MAT1A were updated from 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454 to 7560086; 4421454; 3812486; 8770875; 1527987; 7229751; 1683972; 10677294 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | MAT1A | Rebecca Foulger reviewed gene: MAT1A: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAT1A |
Rebecca Foulger gene: MAT1A was added gene: MAT1A was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MAT1A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MAT1A were set to 8770875; 1527987; 10677294; 7560086; 7229751; 3812486; 1683972; 4421454 Phenotypes for gene: MAT1A were set to METHIONINE ADENOSYLTRANSFERASE DEFICIENCY 250850 |
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