Activity

Filter

Cancel
Date Panel Item Activity
6 actions
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Marked gene: LARS2 as ready
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Classified gene: LARS2 as Green List (high evidence)
Additional findings_Paediatric v0.173 LARS2 Zornitza Stark Gene: lars2 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.163 LARS2 Lilian Downie reviewed gene: LARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Additional findings_Paediatric v0.2 LARS2 Zornitza Stark gene: LARS2 was added
gene: LARS2 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: LARS2 was set to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: LARS2 were set to Perrault syndrome