ELOVL5

ELOVL fatty acid elongase 5
OMIM: 611805, ClinGen, DECIPHER

3 panels

Panel Reviews Mode of inheritance Details
3 panels

Green ELOVL5 in Mendeliome


Version 2.0

1 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 1.0

0 reviews Unknown
Sources
  • Victorian Clinical Genetics Services
  • Expert Review Green

Green ELOVL5 in Ataxia


Level 2: Neurology and neurodevelopmental disorders
Version 2.0

1 review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Royal Melbourne Hospital
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Spinocerebellar ataxia 38, MIM#615957