Genomics England
GMS Panels
Panels
Genes and Entities

HK1

hexokinase 1
OMIM: 142600
PanelMode of inheritanceDetails
4 panels
Green
in Hereditary neuropathy NOT PMP22 copy number
R-numbers: R78
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, Russe type, 605285, Hemolytic anemia due to hexokinase deficiency, 235700
Green
in Intellectual disability
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 4.4
BIALLELIC, autosomal or pseudoautosomal
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
Green
in Rare anaemia
R-numbers: R92
Signed-off version 2.1
BIALLELIC, autosomal or pseudoautosomal
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
in Retinal disorders
R-numbers: R32
Signed-off version 3.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa 79, OMIM:617460, MONDO:0044320