Glaucoma (developmental)
Gene: ELOVL4EnsemblGeneIds (GRCh38): ENSG00000118402
EnsemblGeneIds (GRCh37): ENSG00000118402
OMIM: 605512, Gene2Phenotype
ELOVL4 is in 14 panels
2 reviews
Nicola Ragge (Birmingham Women's and Children's NHS Foundation Hospital Trust)
retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 19 Jun 2019, 3:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stargardt disease 3; 600110
Ivone Leong (Genomics England Curator)
Submitted on behalf of Professor Nicola Ragge (Wessex and West Midlands GLH). retinal gene, can't find any evidence that it is associated with structural eye diseaseCreated: 17 Apr 2019, 3:30 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Stargardt disease 3, 600110
Details
- Sources
-
- NHS GMS
- Emory Genetics Laboratory
- Phenotypes
-
- Eye Disorders
- OMIM
- 605512
- Clinvar variants
- Variants in ELOVL4
- Penetrance
- Complete
- Panels with this gene
-
- Dystonia, chorea or related movement disorder, childhood onset
- Structural eye disease
- Intellectual disability
- DDG2P
- Hereditary ataxia
- Glaucoma (developmental)
- Ataxia and cerebellar anomalies - childhood onset
- Retinal disorders
- Palmoplantar keratoderma and erythrokeratodermas
- Fetal anomalies
- Hereditary ataxia, adult onset
- Palmoplantar keratodermas
- Ichthyosis and erythrokeratoderma
- Neurodegenerative disorders, adult onset
History Filter Activity
panel promoted to version 1
Ellen McDonagh (Genomics England Curator)27/04/2017: Revised after review and further curation, with clinical input, and promoted to version 1.
Added New Source
Eik Haraldsdottir (Genomics England)ELOVL4 was added to Glaucoma (developmental)panel. Sources: Emory Genetics Laboratory