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  2. Familial hypercholesterolaemia (GMS)
  3. GCKR
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Familial hypercholesterolaemia (GMS)

Gene: GCKR

Red List (low evidence)
GCKR (glucokinase regulator)
EnsemblGeneIds (GRCh38): ENSG00000084734
EnsemblGeneIds (GRCh37): ENSG00000084734
OMIM: 600842, Gene2Phenotype
GCKR is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Personal communication from Mafalda Bourbon, Head of the Cardiovascular Research Group, National Iinstitue of Health Dr Ricardo Jorge, Lisbon, Portugal: Two different heterozygous nonsense variants found in two FH patients, who were negative for variants in LDLR, APOB and PCSK9.
Sources: Other
Created: 23 Mar 2021, 5:56 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
familial hypercholesterolemia MONDO:0005439

Created: 23 Mar 2021, 5:56 p.m.

Panel version: 1.9

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Other
Phenotypes
  • familial hypercholesterolemia MONDO:0005439
OMIM
600842
Clinvar variants
Variants in GCKR
Penetrance
None
Panels with this gene

History Filter Activity

23 Mar 2021, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: GCKR was added gene: GCKR was added to Familial hypercholesterolaemia - targeted panel. Sources: Other Mode of inheritance for gene: GCKR was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: GCKR were set to familial hypercholesterolemia MONDO:0005439 Review for gene: GCKR was set to RED