HK1

hexokinase 1
OMIM: 142600, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HK1 in Congenital hyperinsulinism Level 3: Disorders of unusual phenotypes Level 2: Endocrine disorders Version 3.4 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 1.118	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Hemolytic anemia due to hexokinase deficiency, OMIM:235700
Amber HK1 in Optic neuropathy Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.30 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547 Tags Q4_22_promote_green
Green HK1 in Rare anaemia Version 3.8 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 DDG2P Version 3.90 Latest signed off version: v3.1 (22 Mar 2023) 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 1.477	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 - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.557 Latest signed off version: v5.0 (22 Mar 2023) 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 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	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 Version 3.94 Latest signed off version: v3.24 (15 May 2023)	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
Green HK1 in Severe Paediatric Disorders Version 1.184	review	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