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Intellectual disability

Gene: UGGT1

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

3 reviews

Arina Puzriakova (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 12 Mar 2026, 1:33 p.m. | Last Modified: 12 Mar 2026, 1:33 p.m.
Panel Version: 9.299
Created: 12 Mar 2026, 1:33 p.m.
Last Modified: 12 Mar 2026, 1:33 p.m.
Panel version: 9.299

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on list classification: There is sufficient evidence available for the association of biallelic UGGT1 variants with intellectual disability (six families with severe ID). Hence, this gene can be promoted to green rating in the next GMS update.
Created: 30 Sep 2025, 9:28 a.m. | Last Modified: 30 Sep 2025, 9:28 a.m.
Panel Version: 9.102
PMID:40267907 (2025) reported biallelic UGGT1 variants (either homozygous or compound heterozygous) in fifteen individuals from ten unrelated families of various descents as a cause of congenital disorder of glycosylation. There are a total of nine different UGGT1 variants identified from these patients including one nonsense variant, four insertion or deletion (indel) variants and four missense variants. All variants are ultra-rare or absent from gnomAD v.4.1.0.

The cardinal clinical features of UGGT1-CDG involve developmental delay, intellectual disability (severe ID reported in all tested individuals - ten from six unrelated families), seizures, characteristic facial features, and microcephaly in the majority (9/11 affected individuals for whom measurements were available).

Molecular studies showed that pathogenic UGGT1 variants impair UGGT1 glucosylation and catalytic activity, disrupt mRNA splicing, or inhibit endoplasmic reticulum (ER) retention.

This gene has been associated with UGGT1-related congenital disorder of glycosylation with neurodevelopmental impairment phenotype on the DD panel of Gene2Phenotype with 'moderate' rating, but not yet with any phenotypes in OMIM.
Created: 30 Sep 2025, 9:24 a.m. | Last Modified: 30 Sep 2025, 9:24 a.m.
Panel Version: 9.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
congenital disorder of glycosylation, MONDO:0015286

Publications

Created: 30 Sep 2025, 9:24 a.m.
Last Modified: 30 Sep 2025, 9:24 a.m.
Panel version: 9.99

Karen Stals (Royal Devon and Exeter Hospital)

Green List (high evidence)

Dardas et al report biallelic UGGT1 variants in 10 families (15 individuals), with more severe phenotypes seen with biallelic loss of function variants. UGGT1 variants were shown to impair UGGT1 glycosylation and catalytic activity.
Sources: Literature
Created: 16 Sep 2025, 10:15 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
intellectual disability; seizures; characteristic facial features; microcephaly; congenital heart malformations, variable skeletal abnormalities; hepatic and renal involvement; polycystic kidneys

Publications

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

Created: 16 Sep 2025, 10:15 a.m.

Panel version: 9.92

Details

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

History Filter Activity

12 Mar 2026, Gel status: 3

Removed Tag, Removed Tag

Arina Puzriakova (Genomics England Curator)

Tag Q3_25_promote_green was removed from gene: UGGT1. Tag Q3_25_NHS_review was removed from gene: UGGT1.

12 Mar 2026, Gel status: 3

Added New Source, Added New Source, Status Update

Arina Puzriakova (Genomics England Curator)

Source NHS GMS was added to UGGT1. Source Expert Review Green was added to UGGT1. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

30 Sep 2025, Gel status: 2

Entity classified by Genomics England curator

Achchuthan Shanmugasundram (Genomics England Curator)

Gene: uggt1 has been classified as Amber List (Moderate Evidence).

30 Sep 2025, Gel status: 0

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: UGGT1 were changed from intellectual disability; seizures; characteristic facial features; microcephaly; congenital heart malformations, variable skeletal abnormalities; hepatic and renal involvement; polycystic kidneys to congenital disorder of glycosylation, MONDO:0015286

30 Sep 2025, Gel status: 0

Set publications

Achchuthan Shanmugasundram (Genomics England Curator)

Publications for gene: UGGT1 were set to PMID: 40267907

30 Sep 2025, Gel status: 0

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q3_25_promote_green tag was added to gene: UGGT1. Tag Q3_25_NHS_review tag was added to gene: UGGT1.

16 Sep 2025, Gel status: 0

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

Karen Stals (Royal Devon and Exeter Hospital)

gene: UGGT1 was added gene: UGGT1 was added to Intellectual disability. Sources: Literature Mode of inheritance for gene: UGGT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: UGGT1 were set to PMID: 40267907 Phenotypes for gene: UGGT1 were set to intellectual disability; seizures; characteristic facial features; microcephaly; congenital heart malformations, variable skeletal abnormalities; hepatic and renal involvement; polycystic kidneys Review for gene: UGGT1 was set to GREEN gene: UGGT1 was marked as current diagnostic