Genomics England
GMS Panels
Panels
Genes and Entities

ELOVL1

ELOVL fatty acid elongase 1
OMIM: 611813
PanelMode of inheritanceDetails
3 panels
Green
in Hereditary spastic paraplegia, childhood onset
R-numbers: R61
Signed-off version 9.7
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 4.16
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Green
in White matter disorders and cerebral calcification - childhood onset
Component of the following Super Panels:
  • - Leukodystrophy, childhood onset
  • - Paediatric disorders
Signed-off version 8.6
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527