HK1

hexokinase 1
OMIM: 142600, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HK1 in Congenital hyperinsulinism Level 2: Endocrinology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Expert review Phenotypes Congenital hyperinsulinism Tags non-coding-known-pathogenic
Green HK1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700
Green HK1 in Optic neuropathy Level 2: Ophthalmology Version 5.48 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Green HK1 in Rare anaemia Level 2: Haematology Version 3.19 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources North West GLH Yorkshire and North East GLH London South GLH NHS GMS Expert Review Green Wessex and West Midlands GLH Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700 Enzyme disorder
Green HK1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700 Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Green HK1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources DD-Gene2Phenotype Expert Review Green Phenotypes HK1-related developmental disorder (monoallelic)
Green HK1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.506	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS London North GLH Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285
Green HK1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 Tags missense
Green HK1 in Retinal disorders Level 2: Ophthalmology Version 8.86 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Other Phenotypes Retinitis pigmentosa 79, OMIM:617460 Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 Tags founder-effect
Green HK1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Radboud University Medical Center, Nijmegen Expert Review Green London North GLH NHS GMS NHS GMS London North GLH Phenotypes Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285