ELOVL5

ELOVL fatty acid elongase 5
OMIM: 611805, Gene2Phenotype

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ELOVL5 in Mendeliome


Version 1.1891

review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • spinocerebellar ataxia type 38 MONDO:0014417

Green ELOVL5 in Regression


Level 2: Neurology and neurodevelopmental disorders
Version 0.556

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

Green ELOVL5 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
    Phenotypes
    • Spinocerebellar ataxia 38, MIM#615957