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Fetal anomalies

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

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Poor growth and microcephaly reported in some individuals.

The other two phenotypes associated with mono-allelic variants in this gene are unlikely to present antenatally.
Created: 29 Nov 2021, 5:46 a.m. | Last Modified: 29 Nov 2021, 5:46 a.m.
Panel Version: 0.797

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457

Created: 29 Nov 2021, 5:46 a.m.
Last Modified: 29 Nov 2021, 5:46 a.m.
Panel version: 0.797

Belinda Chong (Victorian Clinical Genetics Services)

Green List (high evidence)

OMIM 614457: ISQMR is a severe autosomal recessive disorder characterised by ichthyosis apparent from birth, profound psychomotor retardation with essentially no development, spastic quadriplegia, and seizures. 5 unrelated families reported, seizures in at least 4 of the families.

OMIM 133190: Skin lesion appear shortly after birth and tend to disappear in young adulthood. In a large French-Canadian family, 14/19 individuals with a missense variant presented with erythrokeratodermia variabilis (PMID:24566826). At least two other individuals reported with erythrokeratodermia (and SCA34) as a result of a missense variant (PMID:26258735; 30065956).

OMIM 600110: Stargardt disease-3 (STGD3) is an autosomal dominant juvenile macular dystrophy with onset most commonly in the second decade of life. Fundus examination reveals macular pigmentary changes and yellow flecks. Fluorescein angiography shows macular retinal pigment epithelium (RPE) defects
Created: 29 Nov 2021, 3:23 a.m. | Last Modified: 29 Nov 2021, 3:23 a.m.
Panel Version: 0.774

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457; Spinocerebellar ataxia 34 MIM#133190; Stargardt disease 3 MIM#600110

Publications

Created: 29 Nov 2021, 3:23 a.m.
Last Modified: 29 Nov 2021, 3:23 a.m.
Panel version: 0.774

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457
OMIM
605512
Clinvar variants
Variants in ELOVL4
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Nov 2021, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: elovl4 has been classified as Green List (High Evidence).

29 Nov 2021, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ELOVL4 were changed from ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION to Ichthyosis, spastic quadriplegia, and mental retardation MIM#614457

29 Nov 2021, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ELOVL4 were set to

24 Oct 2021, Gel status: 3

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ELOVL4 was added gene: ELOVL4 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: ELOVL4 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ELOVL4 were set to ICHTHYOSIS, SPASTIC QUADRIPLEGIA, AND MENTAL RETARDATION