Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Marked gene: HMGCL as ready
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Gene: hmgcl has been classified as Green List (High Evidence).
Prepair 1000+ v1.1627 HMGCL Zornitza Stark Phenotypes for gene: HMGCL were changed from HMG-CoA lyase deficiency, 246450 (3) to HMG-CoA lyase deficiency, MIM# 246450
Prepair 1000+ v1.1577 HMGCL Lauren Rogers reviewed gene: HMGCL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: HMG-CoA lyase deficiency, MIM# 246450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Prepair 1000+ v1.3 HMGCL Seb Lunke Added phenotypes HMG-CoA lyase deficiency, 246450 (3) for gene: HMGCL
Prepair 1000+ v0.0 HMGCL Zornitza Stark gene: HMGCL was added
gene: HMGCL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green
Mode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)