DDG2P
Gene: UGGT1

UGGT1 (UDP-glucose glycoprotein glucosyltransferase 1)
EnsemblGeneIds (GRCh38): ENSG00000136731
EnsemblGeneIds (GRCh37): ENSG00000136731
OMIM: 605897, Gene2Phenotype
UGGT1 is in 7 panels

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The DDG2P confidence category, allelic requirement and molecular mechanism for UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment are moderate, biallelic_autosomal and loss of function (PMID:40267907). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03737.
Created: 13 Feb 2026, 9:26 p.m. | Last Modified: 13 Feb 2026, 9:26 p.m.

Panel Version: 6.17

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
MONDO:0015286; UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment

Publications

40267907

Created: 13 Feb 2026, 9:26 p.m.
Last Modified: 13 Feb 2026, 9:26 p.m.
Panel version: 6.17

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

DD-Gene2Phenotype
Expert Review Green

Phenotypes

UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment
MONDO:0015286

OMIM

605897

Clinvar variants

Variants in UGGT1

Penetrance

None

Publications

40267907

Panels with this gene

History Filter Activity

13 Feb 2026, Gel status: 3

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

gene: UGGT1 was added gene: UGGT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGGT1 were set to 40267907 Phenotypes for gene: UGGT1 were set to UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment; MONDO:0015286

DDG2P Gene: UGGT1