Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Hand and foot malformations v0.47 SMARCA4 Bryony Thompson Marked gene: SMARCA4 as ready
Hand and foot malformations v0.47 SMARCA4 Bryony Thompson Gene: smarca4 has been classified as Green List (High Evidence).
Hand and foot malformations v0.47 SMARCA4 Bryony Thompson Publications for gene: SMARCA4 were set to
Hand and foot malformations v0.46 SMARCA4 Bryony Thompson Classified gene: SMARCA4 as Green List (high evidence)
Hand and foot malformations v0.46 SMARCA4 Bryony Thompson Gene: smarca4 has been classified as Green List (High Evidence).
Hand and foot malformations v0.45 SMARCA4 Bryony Thompson reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308; Phenotypes: Coffin-Siris syndrome 4 MIM#614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Hand and foot malformations v0.0 SMARCA4 Bryony Thompson gene: SMARCA4 was added
gene: SMARCA4 was added to Hand and foot malformation. Sources: Expert list
Mode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4 MIM#614609