Congenital Disorders of Glycosylation
Gene: B3GLCTEnsemblGeneIds (GRCh38): ENSG00000187676
EnsemblGeneIds (GRCh37): ENSG00000187676
OMIM: 610308, Gene2Phenotype
B3GLCT is in 18 panels
1 review
Ain Roesley (Victorian Clinical Genetics Services)
PMID: 18199743
- 4 affecteds including 1 pair of siblings with mass spec analysis from patients' serum showing defective O-glycosylation
PMID: 16909395
- 20 affecteds from 15 families with no defective N-glycosylation however authors did not examine O-glycosylation and concluded that absence of defective glycosylation cannot be completely ruled out
Sources: LiteratureCreated: 15 Jul 2020, 5:42 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Peters-plus syndrome (MIM# 261540)
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Peters-plus syndrome (MIM# 261540)
- OMIM
- 610308
- Clinvar variants
- Variants in B3GLCT
- Penetrance
- unknown
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Hydrocephalus_Ventriculomegaly
- Hand and foot malformations
- Anophthalmia_Microphthalmia_Coloboma
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Mendeliome
- Eye Anterior Segment Abnormalities
- Cataract
- Prepair 500+
- Callosome
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: b3glct has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: b3glct has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance
Ain Roesley (Victorian Clinical Genetics Services)gene: B3GLCT was added gene: B3GLCT was added to Congenital Disorders of Glycosylation. Sources: Literature Mode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GLCT were set to 18199743; 16909395 Phenotypes for gene: B3GLCT were set to Peters-plus syndrome (MIM# 261540) Penetrance for gene: B3GLCT were set to unknown Review for gene: B3GLCT was set to GREEN