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Severe Paediatric Disorders v0.12 | POLR1C | Louise Daugherty reviewed gene: POLR1C: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POLR1C | Louise Daugherty Publications for gene POLR1C were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | POLR1C | Louise Daugherty Mode of inheritance for gene POLR1C was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | POLR1C | Louise Daugherty Added phenotypes Treacher Collins syndrome 3, 248390; Leukodystrophy, hypomyelinating, 11, 616494 for gene: POLR1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POLR1C | Louise Daugherty Added phenotypes Treacher Collins syndrome 3, 248390; Leukodystrophy, hypomyelinating, 11, 616494 for gene: POLR1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | POLR1C | Louise Daugherty Added phenotypes Treacher Collins syndrome 3, 248390; Leukodystrophy, hypomyelinating, 11, 616494 for gene: POLR1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | POLR1C | Louise Daugherty Added phenotypes Leukodystrophy, hypomyelinating, 11, 616494; Treacher Collins syndrome 3, 248390 for gene: POLR1C | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | POLR1C | Louise Daugherty Source Next Generation Children Project was added to POLR1C. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | POLR1C |
Louise Daugherty Source Expert Review Green was added to POLR1C. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | POLR1C |
Louise Daugherty gene: POLR1C was added gene: POLR1C was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: POLR1C was set to |