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Ectodermal Dysplasia v0.28 | BCS1L | Zornitza Stark Marked gene: BCS1L as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.28 | BCS1L | Zornitza Stark Gene: bcs1l has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.28 | BCS1L | Zornitza Stark Phenotypes for gene: BCS1L were changed from Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 to Bjornstad syndrome MIM#262000 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.27 | BCS1L | Zornitza Stark Publications for gene: BCS1L were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.1 | BCS1L | Bryony Thompson reviewed gene: BCS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 24172246, 17314340, 9545407; Phenotypes: Bjornstad syndrome MIM#262000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Ectodermal Dysplasia v0.0 | BCS1L |
Bryony Thompson gene: BCS1L was added gene: BCS1L was added to Ectodermal Dysplasia_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: BCS1L were set to Bjornstad syndrome, GRACILE syndrome, Leigh syndrome, Mitochondrial complex III deficiency, nuclear type 1 |