Retinal disorders
Gene: ELOVL1

ELOVL1 (ELOVL fatty acid elongase 1)
EnsemblGeneIds (GRCh38): ENSG00000066322
EnsemblGeneIds (GRCh37): ENSG00000066322
OMIM: 611813, Gene2Phenotype
ELOVL1 is in 4 panels

1 review

Ivone Leong (Genomics England Curator)

I don't know

Submitted on behalf of the GMS Eye specialist group. These genes are also from RetNet. There is currently not enough evidence to rate these genes Green, therefore they have been given an Amber rating.
Created: 27 Dec 2019, 9:10 a.m. | Last Modified: 27 Dec 2019, 9:10 a.m.

Panel Version: 2.5

Created: 27 Dec 2019, 9:10 a.m.
Last Modified: 27 Dec 2019, 9:10 a.m.
Panel version: 2.5

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

NHS GMS
RetNet
Expert Review Amber

Phenotypes

Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527

OMIM

611813

Clinvar variants

Variants in ELOVL1

Penetrance

None

Panels with this gene

History Filter Activity

23 Nov 2021, Gel status: 2

Set mode of inheritance

Arina Puzriakova (Genomics England Curator)

Mode of inheritance for gene: ELOVL1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

23 Nov 2021, Gel status: 2

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: ELOVL1 were changed from to Ichthyotic keratoderma, spasticity, hypomyelination, and dysmorphic facies, OMIM:618527

27 Dec 2019, Gel status: 2

Created, Added New Source, Set mode of inheritance

Ivone Leong (Genomics England Curator)

gene: ELOVL1 was added gene: ELOVL1 was added to Retinal disorders. Sources: Expert Review Amber,RetNet,NHS GMS Mode of inheritance for gene: ELOVL1 was set to

Retinal disorders Gene: ELOVL1