Retinal disorders
Gene: ELOVL4
ELOVL4 (ELOVL fatty acid elongase 4)
EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels
EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels
2 reviews
Gavin Arno (UCL Institute of Ophthalmology/Moorfields Eye Hospital)
Ellen McDonagh (Genomics England Curator)
This gene is on the Manchester Genetic Retinal Degeneration Conditions panel (covers known genes for isolated progessive retinal degeneration, Leber congenital amaurosis, macular dystrophy, achromatopsia, congenital stationary night blindness as well as the two most common causes of syndromic blindess Usher and Bardet-Biedl syndromes and additional syndromes including Joubert, Senior-Loken, and Cohen syndrome.Created: 2 Jun 2016, 8:04 a.m.
Comment on mode of inheritance: Mode of inheritance for Stargardt disease 3 (source: OMIM).Created: 22 Mar 2016, 11:59 a.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- NHS GMS
- Expert Review Green
- 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
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- Penetrance
- Complete
- Panels with this gene
-
- Palmoplantar keratodermas
- Hereditary ataxia with onset in adulthood
- Ichthyosis and erythrokeratoderma
- Childhood onset dystonia, chorea or related movement disorder
- Retinal disorders
- Hereditary ataxia
- Structural eye disease
- Adult onset neurodegenerative disorder
- Glaucoma (developmental)
- Intellectual disability
- Fetal anomalies
- DDG2P
- Palmoplantar keratoderma and erythrokeratodermas
- Ataxia and cerebellar anomalies - narrow panel
History Filter Activity
3 Apr 2019, Gel status: 3
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source NHS GMS was added to ELOVL4. Rating Changed from Green List (high evidence) to Green List (high evidence)
22 Mar 2016, Gel status: 4
Gene classified by Genomics England curator
Ellen McDonagh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
22 Mar 2016, Gel status: 4
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Mode of inheritance for ELOVL4 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
9 Mar 2016, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)ELOVL4 was created by ellenmcdonagh
9 Mar 2016, Gel status: 4
Added New Source
Ellen McDonagh (Genomics England Curator)ELOVL4 was added to Posterior segment abnormalitiespanel. Sources: Expert Review Green