PanelApp (stage)
  1. Genes and Genomic Entities
  2. ELOVL4

ELOVL4

ELOVL fatty acid elongase 4
OMIM: 605512, Gene2Phenotype

10 panels

Panel Reviews Mode of inheritance Details
10 panels

Green ELOVL4 in Ichthyosis


Level 2: Dermatological disorders
Version 1.11

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)

Green ELOVL4 in Mendeliome


Version 1.1891

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760
  • spinocerebellar ataxia type 34 MONDO:0007574
  • Stargardt disease MONDO:0019353

Green ELOVL4 in Palmoplantar Keratoderma and Erythrokeratoderma


Level 2: Dermatological disorders
Version 0.132

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Spinocerebellar ataxia 34, MIM#133190

Green ELOVL4 in Genetic Epilepsy


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Progressive Neurological Conditions

    		•  review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    • Expert Review
    Phenotypes
    • Ichthyosis, spastic quadriplegia, and mental retardation (MIM#614457)

    Green ELOVL4 in Regression


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.556

    		review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ELOVL4 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.6063

    		review Unknown
    Sources
    • Genetic Health Queensland
    • Expert Review Green

    Green ELOVL4 in Ataxia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.16

    Component of the following Super Panels:

  • Ataxia_Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Spinocerebellar ataxia 34 133190
    • Spinocerebellar ataxia 34, 133190

    Green ELOVL4 in Macular Dystrophy/Stargardt Disease


    Level 2: Ophthalmological disorders
    Version 0.45

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Royal Melbourne Hospital
    • Expert Review Green
    Phenotypes
    • Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
    • Stargardt disease 3, 600110
    • Ichthyosis, spastic quadriplegia, and mental retardation, 614457

    Green ELOVL4 in Syndromic Retinopathy


    Level 2: Ophthalmological disorders
    Version 0.209

    Component of the following Super Panels:

  • Retinal Disorders Superpanel

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Green
    • RetNet
    • Expert Review Green
    Phenotypes
    • Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
    • Stargardt disease 3, 600110
    • Ichthyosis, spastic quadriplegia, and mental retardation, 614457

    Green ELOVL4 in Fetal anomalies


    Version 1.255

    		review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genomics England PanelApp
    Phenotypes
    • Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457