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| DDG2P v3.12 | MED13L | Achchuthan Shanmugasundram reviewed gene: MED13L: Rating: GREEN; Mode of pathogenicity: ; Publications: 25712080, 29511999, 29959045, 25758992, 25137640, 24781760, 28371282, 28645799, 29159987, 23403903; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | MED13 | Achchuthan Shanmugasundram reviewed gene: MED13: Rating: GREEN; Mode of pathogenicity: ; Publications: 29740699; Phenotypes: MED13 - Neurodevelopment disorder; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MED13L |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED13L. Publications for gene: MED13L were updated from 23403903 to 25712080; 29511999; 25758992; 25137640; 24781760; 28371282; 28645799; 29159987; 29959045; 23403903 Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v3.11 | MED13 |
Achchuthan Shanmugasundram Source Expert Review Green was added to MED13. Rating Changed from Amber List (moderate evidence) to Green List (high evidence) |
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| DDG2P v1.38 | MED13 | Rebecca Foulger reviewed gene: MED13: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.37 | MED13 |
Rebecca Foulger gene: MED13 was added gene: MED13 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Amber Mode of inheritance for gene: MED13 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED13 were set to 29740699 Phenotypes for gene: MED13 were set to MED13 - Neurodevelopment disorder |
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| DDG2P v0.2 | MED13L | Rebecca Foulger reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MED13L |
Rebecca Foulger gene: MED13L was added gene: MED13L was added to DDG2P. Sources: Expert Review Amber,DD-Gene2Phenotype Mode of inheritance for gene: MED13L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: MED13L were set to 23403903 Phenotypes for gene: MED13L were set to INTELLECTUAL DISABILITY |
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