ELOVL4

ELOVL fatty acid elongase 4
OMIM: 605512
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.23
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 34
Green
in DDG2P
Component of the following Super Panels:
  • - Paediatric disorders
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION 614457
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
R-numbers: R54
Signed-off version 2.13
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 34, 133190, Spinocerebellar ataxia 34 133190
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457, ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION
R-numbers: R58
Signed-off version 2.31
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Spinocerebellar ataxia 34 133190
R-numbers: R166
Signed-off version 1.3
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Ichthyosis, spastic quadriplegia, mental retardation
R-numbers: R32, R33, R34, R35
Signed-off version 2.7
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Macular dystrophy, autosomal dominant, chromosome 6-linked, Stargardt disease 3, Stargardt disease 3, 600110Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110Ichthyosis, spastic quadriplegia, and mental retardation, 614457, Stargardt Disease, Dominant, Stargardt disease 3, 600110, Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110, Ichthyosis, spastic quadriplegia, and mental retardation, 614457, Macular Dystrophy/Degeneration/Stargardt Disease, Eye Disorders