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| DDG2P v3.12 | COL13A1 | Achchuthan Shanmugasundram reviewed gene: COL13A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 26626625; Phenotypes: Congenital Myasthenic Syndrome Type 19; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL13A1 |
Achchuthan Shanmugasundram Source Expert Review Green was added to COL13A1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v0.2 | COL13A1 | Rebecca Foulger reviewed gene: COL13A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL13A1 |
Rebecca Foulger gene: COL13A1 was added gene: COL13A1 was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: COL13A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL13A1 were set to 26626625 Phenotypes for gene: COL13A1 were set to Congenital Myasthenic Syndrome Type 19 |
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