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Genetic Epilepsy

Gene: UGGT1

Red List (low evidence)

UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000136731
EnsemblGeneIds (GRCh37): ENSG00000136731
OMIM: 605897, Gene2Phenotype
UGGT1 is in 2 panels

1 review

Elena Savva (Victorian Clinical Genetics Services)

Red List (low evidence)

Gene was on the Oliver list for epilepsy genes.

No gene-disease association paper has been published.

GnomAD NOT constrained for LOF variants.
Sources: Literature
Created: 25 Feb 2024, 10:14 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
Unknown
Sources
  • Expert Review Red
  • Literature
OMIM
605897
Clinvar variants
Variants in UGGT1
Penetrance
None
Panels with this gene

History Filter Activity

25 Feb 2024, Gel status: 1

Entity classified by Genomics England curator

Elena Savva (Victorian Clinical Genetics Services)

Gene: uggt1 has been classified as Red List (Low Evidence).

25 Feb 2024, Gel status: 1

Created, Added New Source, Set mode of inheritance

Elena Savva (Victorian Clinical Genetics Services)

gene: UGGT1 was added gene: UGGT1 was added to Genetic Epilepsy. Sources: Literature Mode of inheritance for gene: UGGT1 was set to Unknown Review for gene: UGGT1 was set to RED