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  3. ELOVL4
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Syndromic Retinopathy

Gene: ELOVL4

Green List (high evidence)
ELOVL4 (ELOVL fatty acid elongase 4)
EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 10 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Green List (high evidence)

Well-established gene-disease associations. Monoallelic loss-of-function variants are associated with macular dystrophy/Stargardt disease. Biallelic loss-of-function variants cause congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome. Monoallelic missense variants cause spinocerebellar ataxia.
Created: 1 Apr 2022, 3:07 a.m. | Last Modified: 1 Apr 2022, 3:07 a.m.
Panel Version: 0.12390

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
congenital ichthyosis-intellectual disability-spastic quadriplegia syndrome MONDO:0013760; spinocerebellar ataxia type 34 MONDO:0007574; Stargardt disease MONDO:0019353

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 1 Apr 2022, 3:07 a.m.
Last Modified: 1 Apr 2022, 3:07 a.m.
Panel version: Imported from Mendeliome panel version 0.12390

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Green
  • RetNet
  • Expert Review Green
Phenotypes
  • Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110
  • Stargardt disease 3, 600110
  • Ichthyosis, spastic quadriplegia, and mental retardation, 614457
OMIM
605512
Clinvar variants
Variants in ELOVL4
Penetrance
None
Panels with this gene

History Filter Activity

7 Feb 2020, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: ELOVL4 was added gene: ELOVL4 was added to Syndromic Retinopathy. Sources: Expert Review Green,RetNet Mode of inheritance for gene: ELOVL4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: ELOVL4 were set to Macular dystrophy, autosomal dominant, chromosome 6-linked, 600110; Stargardt disease 3, 600110; Ichthyosis, spastic quadriplegia, and mental retardation, 614457