Renal Macrocystic Disease

Gene: UGGT1

Amber List (moderate evidence)

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

1 review

Krithika Murali (Victorian Clinical Genetics Services)

I don't know

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.
Sources: Literature
Created: 30 Apr 2025, 1:08 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

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

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Amber
  • 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: 2

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

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

30 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

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

30 Apr 2025, Gel status: 2

Entity classified by Genomics England curator

Krithika Murali (Victorian Clinical Genetics Services)

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

30 Apr 2025, Gel status: 1

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

Krithika Murali (Victorian Clinical Genetics Services)

gene: UGGT1 was added gene: UGGT1 was added to Renal Macrocystic Disease. 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 Congenital disorder of glycosylation - MONDO:0015286; UGGT1-CDG Review for gene: UGGT1 was set to AMBER