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  3. PKLR
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Fetal hydrops

Gene: PKLR

Green List (high evidence)
PKLR (pyruvate kinase L/R)
EnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 5 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment 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
Created: 24 Jan 2024, 6:03 p.m.
Last Modified: 24 Jan 2024, 6:03 p.m.
Panel version: 1.63

Zornitza Stark (Australian Genomics)

Green List (high evidence)

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 list
Created: 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

Created: 30 Dec 2019, 9 p.m.

Panel version: 1.16

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Pyruvate kinase deficiency, OMIM:266200
OMIM
609712
Clinvar variants
Variants in PKLR
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Jan 2024, Gel status: 3

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: pklr has been classified as Green List (High Evidence).

24 Jan 2024, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: PKLR were changed from Pyruvate Kinase deficiency to Pyruvate kinase deficiency, OMIM:266200

30 Dec 2019, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Zornitza Stark (Australian Genomics)

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