Activity

Filter

Cancel
Date Panel Item Activity
5 actions
Hydrops fetalis v0.104 PTH1R Zornitza Stark Marked gene: PTH1R as ready
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.104 PTH1R Zornitza Stark Classified gene: PTH1R as Green List (high evidence)
Hydrops fetalis v0.104 PTH1R Zornitza Stark Gene: pth1r has been classified as Green List (High Evidence).
Hydrops fetalis v0.100 PTH1R George McGillivray gene: PTH1R was added
gene: PTH1R was added to Hydrops fetalis_VCGS. Sources: Expert list
Mode of inheritance for gene: PTH1R was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: PTH1R were set to 3975110; 9268097; 8723092
Phenotypes for gene: PTH1R were set to CHONDRODYSPLASIA, BLOMSTRAND TYPE; BOCD
Review for gene: PTH1R was set to GREEN
Added comment: PMID 3975110
Original case report "The infant was hydropic, showed macroglossia and had very short limbs with normal sized hands and feet"
PMID 9268097
Sibling fetuses were both hydropic at 26 and 33 weeks' gestation.
PMID 8723092:
Both fetuses hydropic, one grossly so.
Sources: Expert list