HK1

hexokinase 1
OMIM: 142600, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green HK1 in Hyperinsulinism Level 2: Endocrine disorders Version 1.49	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Expert Review Victorian Clinical Genetics Services Phenotypes Hyperinsulinism MONDO:0002177, HK1-related Tags deep intronic
Green HK1 in Mendeliome Version 1.3499	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Neuropathy, hereditary motor and sensory, Russe type , MIM#605285 Haemolytic anaemia due to hexokinase deficiency, MIM# 235700 Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547 Retinitis pigmentosa 79, MIM# 617460 Tags deep intronic
Green HK1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.398	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes Neurodevelopmental disorder with visual defects and brain anomalies, MIM# 618547
Green HK1 in Retinitis pigmentosa_Autosomal Dominant Level 2: Ophthalmological disorders Version 0.80 Component of the following Super Panels: Retinal Disorders Superpanel Retinitis Pigmentosa Superpanel	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Royal Melbourne Hospital Phenotypes Retinitis pigmentosa 79, MIM# 617460
Green HK1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Royal Melbourne Hospital Phenotypes HMSN Neuropathy, hereditary motor and sensory, Russe type, 605285 Tags 5'UTR founder
Green HK1 in Mackenzie's Mission_Reproductive Carrier Screening Level 2: Screening Version 0.110	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)
Red HK1 in Additional findings_Paediatric Level 2: Screening Version 0.278	0 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red BabySeq Category C gene Phenotypes Hemolytic anemia due to hexokinase deficiency
Green HK1 in Red cell disorders Level 2: Haematological disorders Version 1.33	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH North West GLH London South GLH Phenotypes Haemolytic anaemia due to hexokinase deficiency, MIM# 235700
Green HK1 in Prepair 1000+ Level 2: Screening Version 2.14	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Mackenzie's Mission Phenotypes Hemolytic anemia due to hexokinase deficiency MIM#235700 Neuropathy, hereditary motor and sensory, Russe type, MIM#605285
Green HK1 in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.140	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green BabySeq Category C gene BeginNGS Phenotypes Hyperinsulinism MONDO:0002177, HK1-related Tags treatable endocrine