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Mendeliome

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.
Affected individuals had GDD and intellectual disability of varying severity.

Other cardinal clinical features included microcephaly, seizures, craniofacial dysmorphism, and behavioral abnormalities (autism, ADHD) . More variable features included congenital heart disease, cryptorchism; renal anomalies (cystic/dysplastic kidneys in 2 individuals simiilar in appearance to ARPKD); hepatomegaly; recurrent infections; and skeletal anomalies (scoliosis and/or vertebral anomalies).

Supportive functional evidence also provided.
Created: 30 Apr 2025, 12:40 a.m. | Last Modified: 30 Apr 2025, 12:40 a.m.
Panel Version: 1.2512

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, 10:13 p.m.

Mode of inheritance
Unknown

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Congenital disorder of glycosylation - MONDO:0015286
  • UGGT1-CDG
OMIM
605897
Clinvar variants
Variants in UGGT1
Penetrance
None
Publications
Panels with this gene

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).

30 Apr 2025, Gel status: 3

Set Phenotypes

Krithika Murali (Victorian Clinical Genetics Services)

Phenotypes for gene: UGGT1 were changed from to Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG

30 Apr 2025, Gel status: 3

Set publications

Krithika Murali (Victorian Clinical Genetics Services)

Publications for gene: UGGT1 were set to

30 Apr 2025, Gel status: 3

Set mode of inheritance

Krithika Murali (Victorian Clinical Genetics Services)

Mode of inheritance for gene: UGGT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

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