Activity

Filter

Cancel
Date Panel Item Activity
19 actions
Hydrops fetalis v0.286 DOK7 Zornitza Stark Publications for gene: DOK7 were set to 31880392; 19261599
Hydrops fetalis v0.285 DOK7 Zornitza Stark Classified gene: DOK7 as Green List (high evidence)
Hydrops fetalis v0.285 DOK7 Zornitza Stark Gene: dok7 has been classified as Green List (High Evidence).
Hydrops fetalis v0.284 DOK7 Zornitza Stark edited their review of gene: DOK7: Added comment: Upgrade to Green with additional families published (founder variant).; Changed rating: GREEN; Changed publications: 31880392, 19261599, 34132406
Hydrops fetalis v0.284 DOK7 Di Milnes reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 34132406; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.284 DOK7 Di Milnes Deleted their review
Hydrops fetalis v0.284 DOK7 Di Milnes changed review comment from: Homozygous pathogenic variant NM_173660.5:c.439delG
recurrent NIHF in four consanguineous families
NIHF as part of the presentation of FADS; to: Homozygous pathogenic variant NM_173660.5:c.439delG
recurrent NIHF in four consanguineous families
NIHF as part of the presentation of FADS
PMID didn't save the last digit - 34132406
Hydrops fetalis v0.284 DOK7 Di Milnes reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 3413240; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.63 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Marked gene: DOK7 as ready
Hydrops fetalis v0.62 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from Fetal akinesia deformation sequence 3, MIM# 618389 to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.62 DOK7 Zornitza Stark Phenotypes for gene: DOK7 were changed from to Fetal akinesia deformation sequence 3, MIM# 618389
Hydrops fetalis v0.61 DOK7 Zornitza Stark Publications for gene: DOK7 were set to
Hydrops fetalis v0.60 DOK7 Zornitza Stark Mode of inheritance for gene: DOK7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.59 DOK7 Zornitza Stark Classified gene: DOK7 as Amber List (moderate evidence)
Hydrops fetalis v0.59 DOK7 Zornitza Stark Gene: dok7 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.58 DOK7 Zornitza Stark reviewed gene: DOK7: Rating: AMBER; Mode of pathogenicity: None; Publications: 31880392, 19261599; Phenotypes: Fetal akinesia deformation sequence 3, MIM# 618389; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Hydrops fetalis v0.0 DOK7 Zornitza Stark gene: DOK7 was added
gene: DOK7 was added to Hydrops fetalis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services
Mode of inheritance for gene: DOK7 was set to Unknown