ELOVL1

ELOVL fatty acid elongase 1
OMIM: 611813, Gene2Phenotype

4 panels

Panel Reviews Mode of inheritance Details
4 panels
Green ELOVL1 in Ichthyosis and erythrokeratoderma


Level 2: Dermatology
Version 4.12
Latest signed off version: v4.0 (30 Apr 2025)

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
  • Expert list
Phenotypes
  • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
Tags
  • missense
Green ELOVL1 in White matter disorders and cerebral calcification - narrow panel


Level 2: Neurology
Version 7.24
Latest signed off version: v7.0 (30 Apr 2025)

Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Expert list
    Phenotypes
    • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
    Tags
    • missense
    Green ELOVL1 in Childhood onset hereditary spastic paraplegia


    Level 2: Neurology
    Version 8.44
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527
    Tags
    • missense
    Amber ELOVL1 in Retinal disorders


    Level 2: Ophthalmology
    Version 8.119
    Latest signed off version: v8.0 (30 Apr 2025)

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • RetNet
    • Expert Review Amber
    Phenotypes
    • Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527