Fetal hydrops
Gene: PKLRComment on list classification: Rating Green as non-immune hydrops fetalis reported in multiple cases of Pyruvate kinase deficiency.
Green rating also inline with classification on equivalent GMS panel R21 Fetal anomalies (v3.0).Created: 24 Jan 2024, 6:03 p.m. | Last Modified: 24 Jan 2024, 6:03 p.m.
Panel Version: 1.63
PMID 29549173:
A large cohort study (n=233) documented fetal anaemia requiring transfusion in 13% of affected fetuses and hydrops fetalis in 4%.
Sources: Expert listCreated: 30 Dec 2019, 9 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate Kinase deficiency
Publications
Variants in this GENE are reported as part of current diagnostic practice
Gene: pklr has been classified as Green List (High Evidence).
Phenotypes for gene: PKLR were changed from Pyruvate Kinase deficiency to Pyruvate kinase deficiency, OMIM:266200
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