Genomics England
GMS Panels
Panels
Genes and Entities

ELOVL1

ELOVL fatty acid elongase 1
OMIM: 611813
PanelMode of inheritanceDetails
1 panel
Green
in Hereditary spastic paraplegia - childhood onset
R-numbers: R61
Signed-off version 3.1
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527