Hereditary ataxiaGene: ELOVL4
Associated with phenotype in OMIM, not in G2P. At least 2 variants reported in three unrelated cases, segregation demonstrated (two families without without skin lesions)
Created: 15 Aug 2017, 10:40 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Spinocerebellar ataxia 34 133190
This gene has been classified as Green List (High Evidence).
ELOVL4 was added to Hereditary ataxiapanel. Sources: Literature
ELOVL4 was created by sleigh