Hydrops fetalis
Gene: PKLR
PKLR (pyruvate kinase L/R)
EnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000143627
EnsemblGeneIds (GRCh37): ENSG00000143627
OMIM: 609712, Gene2Phenotype
PKLR is in 8 panels
1 review
George McGillivray (Victorian Clinical Genetics Services)
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, 11:40 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Pyruvate Kinase deficiency
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Phenotypes
-
- Pyruvate Kinase deficiency, MIM# 266200
- OMIM
- 609712
- Clinvar variants
- Variants in PKLR
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
30 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pklr has been classified as Green List (High Evidence).
30 Dec 2019, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: PKLR were changed from to Pyruvate Kinase deficiency, MIM# 266200
30 Dec 2019, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: pklr has been classified as Green List (High Evidence).
30 Dec 2019, Gel status: 0
Created, Added New Source, Set mode of inheritance, Set publications
George McGillivray (Victorian Clinical Genetics Services)gene: PKLR was added gene: PKLR was added to Hydrops fetalis_VCGS. 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 Review for gene: PKLR was set to GREEN