HK1

hexokinase 1
OMIM: 142600, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green HK1 in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.80	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Enzyme Disorder Hemolytic anemia due to hexokinase deficiency, 235700
Green HK1 in Rare anaemia Version 1.9 Signed off v.1.2 on 3 Mar 2020	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 235700 Hemolytic anemia due to hexokinase deficiency Hemolytic anemia due to hexokinase deficiency, 235700 235700 Enzyme Disorder Hemolytic anemia due to hexokinase deficiency Enzyme Disorder
Green HK1 in Hereditary neuropathy Level 3: Motor and Sensory Disorders of the PNS Level 2: Neurology and neurodevelopmental disorders Version 1.381	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, 605285 Hemolytic anemia due to hexokinase deficiency, 235700 Neuropathy, hereditary motor and sensory, Russe type, 605285
Green HK1 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 3.714 Signed off v.3.2 on 13 Feb 2020 Component of the following Super Panels: Hypotonic infant Paediatric disorders White matter disorders - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Hemolytic anemia due to hexokinase deficiency, 235700 Neuropathy, hereditary motor and sensory, Russe type, 605285 Abnormal muscle tone Global developmental delay Intellectual disability Visual impairment Neurological speech impairment Ataxia Tags missense
Amber HK1 in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 2.120 Signed off v.2.7 on 25 Feb 2020	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Amber Other Phenotypes Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320 Tags for-review founder-effect
Green HK1 in Hereditary neuropathy NOT PMP22 copy number Version 1.19 Signed off v.1.2 on 27 Feb 2020	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, 605285 Hemolytic anemia due to hexokinase deficiency, 235700
Green HK1 in Severe Paediatric Disorders Version 1.42	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