Fetal hydropsGene: PKLR
A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%.
Sources: Expert list
Created: 30 Dec 2019, 9 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Pyruvate Kinase deficiency
Variants in this GENE are reported as part of current diagnostic practice
gene: PKLR was added gene: PKLR was added to Fetal hydrops. Sources: Expert list Mode of inheritance for gene: PKLR was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PKLR were set to 29549173; 8285758; 10923218 Phenotypes for gene: PKLR were set to Pyruvate Kinase deficiency Review for gene: PKLR was set to GREEN gene: PKLR was marked as current diagnostic