Cytopenias and congenital anaemias
Gene: HK1

HK1 (hexokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000156515
EnsemblGeneIds (GRCh37): ENSG00000156515
OMIM: 142600, Gene2Phenotype
HK1 is in 10 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Comment on publications: 12393545 (1 case); 7655856 (2 cases)
Created: 1 Mar 2017, 3 p.m.

Created: 1 Mar 2017, 3 p.m.

Panel version: 0.267

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency

Variants in this GENE are reported as part of current diagnostic practice

Created: 16 Jan 2017, 3:46 p.m.

Panel version: Imported from "Anaemias and red cell disorders" panel version 0.9

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Hemolytic anemia due to hexokinase deficiency, OMIM:235700

OMIM

142600

Clinvar variants

Variants in HK1

Penetrance

Complete

Publications

Panels with this gene

History Filter Activity

3 Nov 2022, Gel status: 3

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: HK1 were changed from Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700 to Hemolytic anemia due to hexokinase deficiency, OMIM:235700

11 Mar 2017, Gel status: 4

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

1 Mar 2017, Gel status: 4