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Severe Paediatric Disorders v0.17 | BCS1L | Louise Daugherty Mode of inheritance for gene BCS1L was changed from to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.12 | BCS1L | Louise Daugherty reviewed gene: BCS1L: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.11 | BCS1L | Louise Daugherty Publications for gene BCS1L were updated from to 30847515 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.10 | BCS1L | Louise Daugherty Added phenotypes Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000 for gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BCS1L | Louise Daugherty Added phenotypes Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000 for gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.9 | BCS1L | Louise Daugherty Added phenotypes Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Mitochondrial complex III deficiency, nuclear type 1, 124000; Leigh syndrome, 256000 for gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.8 | BCS1L | Louise Daugherty Added phenotypes Bjornstad syndrome, 262000; GRACILE syndrome, 603358; Leigh syndrome, 256000; Mitochondrial complex III deficiency, nuclear type 1, 124000 for gene: BCS1L | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.7 | BCS1L | Louise Daugherty Source Next Generation Children Project was added to BCS1L. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Severe Paediatric Disorders v0.5 | BCS1L |
Louise Daugherty Source Expert Review Green was added to BCS1L. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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Severe Paediatric Disorders v0.4 | BCS1L |
Louise Daugherty gene: BCS1L was added gene: BCS1L was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: BCS1L was set to |