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


Version 3.28
Latest signed off version: v3.2 (22 Mar 2023)

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


Version 3.35
Latest signed off version: v3.0 (22 Mar 2023)

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


    Version 4.42
    Latest signed off version: v4.0 (22 Mar 2023)

    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 3: Posterior segment abnormalities
    Level 2: Ophthalmological disorders
    Version 4.89
    Latest signed off version: v4.0 (22 Mar 2023)

    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