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Research panel - Severe Paediatric 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

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: HK1; Recommended initial gene rating: Green List (high evidence); Phenotypes: Hemolytic anemia due to hexokinase deficiency, 235700 (3) | Neurodevelopmental disorder with visual defects and brain anomalies, 618547 (3) | Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) | Retinitis pigmentosa 79, 617460 (3); Mode of inheritance: Autosomal recessive | Autosomal dominant | Autosomal recessive | Autosomal dominant
Created: 20 Feb 2020, 5:20 p.m. | Last Modified: 20 Feb 2020, 5:20 p.m.
Panel Version: 0.12
Created: 20 Feb 2020, 5:20 p.m.
Last Modified: 20 Feb 2020, 5:20 p.m.
Panel version: 0.12

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Retinitis pigmentosa 79, 617460
  • Hemolytic anemia due to hexokinase deficiency, 235700
  • Neurodevelopmental disorder with visual defects and brain anomalies, 618547
  • Neuropathy, hereditary motor and sensory, Russe type, 605285
OMIM
142600
Clinvar variants
Variants in HK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene HK1 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

20 Feb 2020, Gel status: 3

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene HK1 were updated from to 30847515

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1

20 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Retinitis pigmentosa 79, 617460; Hemolytic anemia due to hexokinase deficiency, 235700; Neurodevelopmental disorder with visual defects and brain anomalies, 618547 for gene: HK1

19 Feb 2020, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Added phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285; Neurodevelopmental disorder with visual defects and brain anomalies, 618547; Hemolytic anemia due to hexokinase deficiency, 235700; Retinitis pigmentosa 79, 617460 for gene: HK1

14 Feb 2020, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Next Generation Children Project was added to HK1.

14 Feb 2020, Gel status: 3

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to HK1. Rating Changed from Red List (low evidence) to Green List (high evidence)

14 Feb 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: HK1 was added gene: HK1 was added to Severe Paediatric Disorders. Sources: Expert list Mode of inheritance for gene: HK1 was set to