KEGG   VARIANT: 64834v1
Entry
64834v1                      Variant                               
Name
ELOVL1 mutation
Type
Loss of function
Gene
ELOVL1  ELOVL fatty acid elongase 1 [KO:K10247]
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
mutations
OmimVar: 611813
Network
nt06545  Cornified envelope formation
Disease
H02675  Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facial features
Reference
PMID:29496980
  Authors
Kutkowska-Kazmierczak A, Rydzanicz M, Chlebowski A, Klosowska-Kosicka K, Mika A, Gruchota J, Jurkiewicz E, Kowalewski C, Pollak A, Stradomska TJ, Kmiec T, Jakubowski R, Gasperowicz P, Walczak A, Sladowski D, Jankowska-Steifer E, Korniszewski L, Kosinska J, Obersztyn E, Nowak W, Sledzinski T, Dziembowski A, Ploski R
  Title
Dominant ELOVL1 mutation causes neurological disorder with ichthyotic keratoderma, spasticity, hypomyelination and dysmorphic features.
  Journal
J Med Genet 55:408-414 (2018)
DOI:10.1136/jmedgenet-2017-105172
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