Genomics England
GMS Panels
Panels
Genes and Entities

HK1

hexokinase 1
OMIM: 142600
PanelMode of inheritanceDetails
6 panels
Green
in Congenital hyperinsulinism
R-numbers: R144
Signed-off version 3.0
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Congenital hyperinsulinism
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 4.3
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
HK1-related developmental disorder (monoallelic)
Green
in Hereditary neuropathy or pain disorder
R-numbers: R78
Signed-off version 4.11
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, Russe type, OMIM:605285
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 6.13
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547
Green
in Rare anaemia
R-numbers: R92
Signed-off version 3.0
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hemolytic anemia due to hexokinase deficiency, OMIM:235700, Enzyme disorder
Green
in Retinal disorders
R-numbers: R32
Signed-off version 5.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Retinitis pigmentosa 79, OMIM:617460, Neurodevelopmental disorder with visual defects and brain anomalies, OMIM:618547