HK1

PanelMode of inheritanceDetails
3 panels
R-numbers: R78
Signed-off version 1.36
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Neuropathy, hereditary motor and sensory, Russe type, 605285, Hemolytic anemia due to hexokinase deficiency, 235700
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
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 1.2
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