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Severe Paediatric Disorders v0.17 | MED13L | Louise Daugherty Mode of inheritance for gene MED13L was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | MED13L | Louise Daugherty reviewed gene: MED13L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | MED13L | Louise Daugherty Publications for gene MED13L were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | MED13L | Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MED13L | Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | MED13L | Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | MED13L | Louise Daugherty Added phenotypes Mental retardation and distinctive facial features with or without cardiac defects, 616789; Transposition of the great arteries, dextro-looped 1, 608808 for gene: MED13L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | MED13L | Louise Daugherty Source Next Generation Children Project was added to MED13L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | MED13L |
Louise Daugherty Source Expert Review Green was added to MED13L. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | MED13L |
Louise Daugherty gene: MED13L was added gene: MED13L was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: MED13L was set to |