Genomics England
GMS Panels
Panels
Genes and Entities

ELOVL1

ELOVL fatty acid elongase 1
OMIM: 611813
PanelMode of inheritanceDetails
3 panels
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.4
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Green
in Ichthyosis and erythrokeratoderma
R-numbers: R165
Signed-off version 3.2
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Green
in White matter disorders and cerebral calcification - narrow panel
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
Signed-off version 5.3
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527