Activity

Filter

Cancel
Date Panel Item Activity
7 actions
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Marked gene: DIAPH1 as ready
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.146 DIAPH1 Zornitza Stark Phenotypes for gene: DIAPH1 were changed from Hearing loss to Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900
Additional findings_Paediatric v0.145 DIAPH1 Zornitza Stark Classified gene: DIAPH1 as Green List (high evidence)
Additional findings_Paediatric v0.145 DIAPH1 Zornitza Stark Gene: diaph1 has been classified as Green List (High Evidence).
Additional findings_Paediatric v0.140 DIAPH1 Lilian Downie reviewed gene: DIAPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 1, with or without thrombocytopenia MIM#124900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Additional findings_Paediatric v0.2 DIAPH1 Zornitza Stark gene: DIAPH1 was added
gene: DIAPH1 was added to Newborn Screening_BabySeq. Sources: BabySeq Category C gene,Expert Review Red
Mode of inheritance for gene: DIAPH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes for gene: DIAPH1 were set to Hearing loss