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Cytopenias and congenital anaemias

Gene: HK1

Green List (high evidence)

HK1 (hexokinase 1)
EnsemblGeneIds (GRCh38): ENSG00000156515
EnsemblGeneIds (GRCh37): ENSG00000156515
OMIM: 142600, Gene2Phenotype
HK1 is in 7 panels

2 reviews

Louise Daugherty (Genomics England Curator)

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

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

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Enzyme Disorder
  • Hemolytic anemia due to hexokinase deficiency, 235700
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

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

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for HK1 were set to 12393545; 7655856

1 Mar 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for HK1 was changed to BIALLELIC, autosomal or pseudoautosomal

1 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for HK1 were set to Enzyme Disorder; Hemolytic anemia due to hexokinase deficiency, 235700

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

HK1 was added to Cytopaenias and congenital anaemiaspanel. Sources: Radboud University Medical Center, Nijmegen

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

HK1 was created by LouiseD