1. Genes and Genomic Entities
  2. ELOVL5

ELOVL5

ELOVL fatty acid elongase 5
OMIM: 611805, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Red ELOVL5 in Ataxia and cerebellar anomalies - childhood onset


Level 2: Neurology
Version 9.35
Latest signed off version: v9.22 (12 Aug 2026)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies, childhood onset

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 36 (#615957)
    Red ELOVL5 in Hereditary ataxia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.345

    		review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • Expert Review
    Phenotypes
    • Spinocerebellar ataxia 36 (#615957)
    Red ELOVL5 in Neurodegenerative disorders, adult onset


    Level 2: Neurology
    Version 9.12
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • NHS GMS
    • Yorkshire and North East GLH
    • Expert Review Red
    Phenotypes
    • Spinocerebellar ataxia 36 (#615957)
    Red ELOVL5 in Intellectual disability


    Level 2: Developmental disorders
    Version 11.28
    Latest signed off version: v11.0 (12 Aug 2026)

    Component of the following Super Panels:

  • Hypotonic infant
  • Leukodystrophy, childhood onset
  • Paediatric disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Expert Review Red
    • BRIDGE study SPEED NEURO Tier1 Gene
    Phenotypes
    • Spinocerebellar ataxia 38, 615957
    Amber ELOVL5 in Hereditary ataxia, adult onset


    Level 2: Neurology
    Version 9.11
    Latest signed off version: v9.4 (12 Aug 2026)

    Component of the following Super Panels:

  • Adult-onset neurological disorders

    		•  review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • London North GLH
    • NHS GMS
    • Wessex and West Midlands GLH
    • Hereditary ataxia v1.148
    Phenotypes
    • Spinocerebellar ataxia 38, OMIM:615957
    • spinocerebellar ataxia type 38, MONDO:0014417
    Tags
    • Q3_26_promote_green