Cerebral vascular malformations
Gene: KELEnsemblGeneIds (GRCh38): ENSG00000197993
EnsemblGeneIds (GRCh37): ENSG00000197993
OMIM: 613883, Gene2Phenotype
KEL is in 1 panel
2 reviews
Achchuthan Shanmugasundram (Genomics England Curator)
As reviewed by Alexandra Njegic, PMID:37978175 reported a cohort of 114 probands with radiographically confirmed vein of Galen malformations (VOGMs), which is the most common and most severe of congenital brain arteriovenous malformations. This includes 55 cases already reported in PMID:30578106. Of these cases, only two were identified with variants in KEL gene (p.(Gln321Ter) & p.(Gly202Ser)).There is no functional evidence available. Hence, this gene should be rated amber with current evidence.Created: 25 Apr 2025, 10:38 a.m. | Last Modified: 25 Apr 2025, 10:38 a.m.
Panel Version: 3.36
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
vein of Galen aneurysm, MONDO:0015196
Publications
Alexandra Njegic (Leeds Teaching Hospital Trust)
37978175, 30578106 (same cohort with additional VOGM probands in 37978175): 30578106; 2/55 VOGM probands with a de novo nonsense or missense variant in KEL, absent in unaffected parents and siblings. No in vitro or in vivo studies. Pathogenicity not provided.
37978175: No additional KEL variants.
Sources: LiteratureCreated: 9 Apr 2025, 12:40 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Vein of Galen Malformation
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- vein of Galen aneurysm, MONDO:0015196
- OMIM
- 613883
- Clinvar variants
- Variants in KEL
- Penetrance
- unknown
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Achchuthan Shanmugasundram (Genomics England Curator)Gene: kel has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)Phenotypes for gene: KEL were changed from Vein of Galen Malformation to vein of Galen aneurysm, MONDO:0015196
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Alexandra Njegic (Leeds Teaching Hospital Trust)gene: KEL was added gene: KEL was added to Cerebral vascular malformations. Sources: Literature Mode of inheritance for gene: KEL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: KEL were set to 30578106; 37978175 Phenotypes for gene: KEL were set to Vein of Galen Malformation Penetrance for gene: KEL were set to unknown Review for gene: KEL was set to AMBER