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Hand and foot malformations v0.49 SMARCB1 Bryony Thompson Marked gene: SMARCB1 as ready
Hand and foot malformations v0.49 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.49 SMARCB1 Bryony Thompson Publications for gene: SMARCB1 were set to
Hand and foot malformations v0.48 SMARCB1 Bryony Thompson Classified gene: SMARCB1 as Green List (high evidence)
Hand and foot malformations v0.48 SMARCB1 Bryony Thompson Gene: smarcb1 has been classified as Green List (High Evidence).
Hand and foot malformations v0.47 SMARCB1 Bryony Thompson reviewed gene: SMARCB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308, 25169878; Phenotypes: Coffin-Siris syndrome 3 MIM#614608; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hand and foot malformations v0.0 SMARCB1 Bryony Thompson gene: SMARCB1 was added
gene: SMARCB1 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3 MIM#614608