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Red cell disorders

Gene: HK1

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Variants in this gene are associated with a range of phenotypes. More than 10 families reported with bi-allelic variants and haemolytic anaemia.
Created: 11 Sep 2021, 2 a.m. | Last Modified: 11 Sep 2021, 2 a.m.
Panel Version: 0.101

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Haemolytic anaemia due to hexokinase deficiency, MIM# 235700

Publications

Created: 11 Sep 2021, 2 a.m.
Last Modified: 11 Sep 2021, 2 a.m.
Panel version: 0.101

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Yorkshire and North East GLH
  • NHS GMS
  • Wessex and West Midlands GLH
  • North West GLH
  • London South GLH
Phenotypes
  • Haemolytic anaemia due to hexokinase deficiency, MIM# 235700
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

11 Sep 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: hk1 has been classified as Green List (High Evidence).

11 Sep 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: HK1 were changed from 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency; Enzyme Disorder to Haemolytic anaemia due to hexokinase deficiency, MIM# 235700

11 Sep 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: HK1 were set to 7655856; 12393545

15 Oct 2020, Gel status: 3

Set Phenotypes, Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Added phenotypes 235700 Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency; Enzyme Disorder for gene: HK1 Publications for gene HK1 were updated from 12393545; 7655856 to 7655856; 12393545

15 Sep 2020, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: HK1 was added gene: HK1 was added to Rare anaemia_GEL. Sources: London South GLH,North West GLH,Expert Review Green,Wessex and West Midlands GLH,NHS GMS,Yorkshire and North East GLH Mode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: HK1 were set to 12393545; 7655856 Phenotypes for gene: HK1 were set to 235700 Enzyme Disorder; Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700; 235700 Hemolytic anemia due to hexokinase deficiency; Hemolytic anemia due to hexokinase deficiency