Genes in panel
Regions in panel
Prev Next

Mendeliome

Gene: KEL

Red List (low evidence)

KEL (Kell blood group, metallo-endopeptidase)
EnsemblGeneIds (GRCh38): ENSG00000197993
EnsemblGeneIds (GRCh37): ENSG00000197993
OMIM: 613883, Gene2Phenotype
KEL is in 2 panels

3 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

No segregation or other supportive data, hence RED rating.
Created: 1 May 2025, 8:21 a.m. | Last Modified: 1 May 2025, 8:21 a.m.
Panel Version: 1.2547

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
vein of Galen aneurysm, MONDO:0015196

Achchuthan Shanmugasundram (Genomics England)

I don't know

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, 10:41 a.m. | Last Modified: 25 Apr 2025, 10:41 a.m.
Panel Version: 1.2499

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
vein of Galen aneurysm, MONDO:0015196

Publications

Ain Roesley (Victorian Clinical Genetics Services)

Red List (low evidence)

there is currently no mendelian disease association.
This gene is known for it's involvement in the Kell anigen system
Created: 31 Dec 2021, 1:14 a.m. | Last Modified: 31 Dec 2021, 1:14 a.m.
Panel Version: 0.10426

Variants in this GENE are reported as part of current diagnostic practice

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • vein of Galen aneurysm, MONDO:0015196
OMIM
613883
Clinvar variants
Variants in KEL
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 May 2025, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KEL were changed from [Blood group, Kell] 110900 to vein of Galen aneurysm, MONDO:0015196

1 May 2025, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: KEL were set to

1 May 2025, Gel status: 1

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: KEL was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

31 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kel has been classified as Red List (Low Evidence).

31 Dec 2021, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: KEL were changed from to [Blood group, Kell] 110900

31 Dec 2021, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: kel has been classified as Red List (Low Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: KEL was added gene: KEL was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: KEL was set to Unknown