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Genetic Epilepsy

Gene: UGGT1

Green List (high evidence)

UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000136731
EnsemblGeneIds (GRCh37): ENSG00000136731
OMIM: 605897, Gene2Phenotype
UGGT1 is in 9 panels

2 reviews

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

PMID: 40267907 Dardas et al 2025 report 15 affected individuals from 10 unrelated families with biallelic UGGT1 variants and CDG/multisystem disorder with clinical features including GDD/ID,
microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD). More variable features included congenital heart disease, cryptorchism; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).Supportive functional evidence also provided.

Of note, two individuals reported with cystic renal dysplasia and hepatobiliary anomalies that were similar in apperaance to ARPKD.
Created: 30 Apr 2025, 1:50 a.m. | Last Modified: 30 Apr 2025, 1:50 a.m.
Panel Version: 1.146

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG

Publications

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

History Filter Activity

30 Apr 2025, Gel status: 3

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

Gene: uggt1 has been classified as Green List (High Evidence).

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