Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Marked gene: DYNC2H1 as ready
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Classified gene: DYNC2H1 as Amber List (moderate evidence)
Hydrops fetalis v0.169 DYNC2H1 Zornitza Stark Gene: dync2h1 has been classified as Amber List (Moderate Evidence).
Hydrops fetalis v0.168 DYNC2H1 Zornitza Stark gene: DYNC2H1 was added
gene: DYNC2H1 was added to Hydrops fetalis. Sources: Expert list
Mode of inheritance for gene: DYNC2H1 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: DYNC2H1 were set to 27925158
Phenotypes for gene: DYNC2H1 were set to Short-rib thoracic dysplasia 3 with or without polydactyly, MIM# 613091
Review for gene: DYNC2H1 was set to AMBER
Added comment: Two families reported with severe antenatal presentation including chylothorax, ascites, oedema.
Sources: Expert list