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Intellectual disability syndromic and non-syndromic

Gene: B3GLCT

Green List (high evidence)
B3GLCT (beta 3-glucosyltransferase)
EnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 18 panels

1 review

Jessica Wright (Genomic Diagnostics, Healius)

Green List (high evidence)

B3GLCT transfers glucose to O-linked fucosylglycans on thrombospondin type-1 repeats (TSRs) of several biologically important proteins. Biallelic pathogenic variants of B3GLCT cause Peters Plus Syndrome which is characterised by ocular features, systemic malformations and intellectual disability. Developmental delay is observed in about 80% of children and can range from mild to severe.

Multiple studies, summarised in a 2017 review by Oberstein et al. which identified about 100 Peters Plus Syndrome affected individuals with Biallelic pathogenic variants of B3GLCT of diverse ethnic background that have been reported in the literature.

Functional studies: (Kosma et al, 2006) showed that mutation of the DDD motif within the putative catalytic domain of B3GLCT abolished its enzymatic activity. Hess et al.(2008) demonstrated that synthesis of the disaccharide Glc-β1,3-Fuc-O- is disrupted in patients with homozygous B3GALTL variants in contrast with their heterozygous relatives. Vasudevan et al (2015) found that POFUT2 and B3GLCT mediate a noncanonical ER quality-control mechanism that recognizes folded TSRs and stabilizes them by glycosylation, providing a molecular basis for the defects observed in PPS.
Created: 5 Dec 2022, 10:01 a.m. | Last Modified: 5 Dec 2022, 10:01 a.m.
Panel Version: 0.5079

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Peters Plus Syndrome (MIM 261540); Peters anomaly; Growth retardation; Brachydactyly; ID

Publications

Created: 5 Dec 2022, 10:01 a.m.
Last Modified: 5 Dec 2022, 10:01 a.m.
Panel version: 0.5079

History Filter Activity

6 Dec 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: b3glct has been classified as Green List (High Evidence).

6 Dec 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: B3GLCT were changed from to Peters Plus Syndrome (MIM 261540); Peters anomaly; Growth retardation; Brachydactyly; ID

6 Dec 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: B3GLCT were set to

6 Dec 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: B3GLCT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: B3GLCT was added gene: B3GLCT was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: B3GLCT was set to Unknown