Cerebral vascular malformations
Gene: EVLEnsemblGeneIds (GRCh38): ENSG00000196405
EnsemblGeneIds (GRCh37): ENSG00000196405
OMIM: 616912, Gene2Phenotype
EVL is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
Comment on list classification: As reviewed by Alexandra Njegic and reported in PMID:34125151, there is one patient with Moyamoya disease identified with compound heterozygous variants in EVL gene. There are no other cases or functional work available.
This gene has not yet been reported with relevant phenotypes either in OMIM or in Gene2Phenotype.
Hence, this gene should be rated red with current evidence.Created: 25 Apr 2025, 12:47 p.m. | Last Modified: 25 Apr 2025, 12:47 p.m.
Panel Version: 3.40
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Moyamoya disease, MONDO:0016820
Publications
Alexandra Njegic (Leeds Teaching Hospital Trust)
34125151: 1 proband with compound heterozygous ‘damaging’ missense variants in EVL, pathogenicity not reported.
No other reports in literature of EVL variants and MMD.
Sources: LiteratureCreated: 8 Apr 2025, 9:46 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Moyamoya Disease
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Moyamoya disease, MONDO:0016820
- OMIM
- 616912
- Clinvar variants
- Variants in EVL
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: evl has been classified as Red List (Low Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: EVL were changed from Moyamoya Disease to Moyamoya disease, MONDO:0016820
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexandra Njegic (Leeds Teaching Hospital Trust)gene: EVL was added gene: EVL was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: EVL was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: EVL were set to 34125151 Phenotypes for gene: EVL were set to Moyamoya Disease Penetrance for gene: EVL were set to unknown Review for gene: EVL was set to RED