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B3GAT3

beta-1,3-glucuronyltransferase 3
OMIM: 606374, Gene2Phenotype

11 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 11 panels
Green B3GAT3 in Congenital disorders of glycosylation Level 2: Metabolic Version 8.8 Latest signed off version: v8.7 (12 Aug 2026) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies, childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Radboud University Medical Center, Nijmegen Literature Emory Genetics Laboratory Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GAT3 in Skeletal dysplasia Level 2: Musculoskeletal Version 10.1 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Radboud University Medical Center, Nijmegen Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 Larsen alike phenotype (skd incl)
Green B3GAT3 in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.645	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GAT3 in Likely inborn error of metabolism Level 2: Metabolic Version 9.30 Latest signed off version: v9.29 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Leukodystrophy, childhood onset Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GAT3 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.1 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Green B3GAT3 in Rare syndromic craniosynostosis or isolated multisuture synostosis Level 2: Musculoskeletal Version 7.1 Latest signed off version: v7.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Craniosynostosis and bone fragility Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects OMIM:245600 Larsen-like syndrome, B3GAT3 type MONDO:0009511
Red B3GAT3 in Osteogenesis imperfecta Level 2: Musculoskeletal Version 6.8 Latest signed off version: v6.7 (12 Aug 2026)	review	Not set	Sources Radboud University Medical Center, Nijmegen Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Red B3GAT3 in DDG2P Version 8.1 Latest signed off version: v8.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Red Phenotypes MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS 245600
Red B3GAT3 in Clefting Level 2: Musculoskeletal Version 7.9 Latest signed off version: v7.8 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	Not set	Sources Expert Review Red Phenotypes MULTIPLE JOINT DISLOCATIONS, SHORT STATURE, AND CRANIOFACIAL DYSMORPHISM WITH OR WITHOUT CONGENITAL HEART DEFECTS JDSCD
Red B3GAT3 in Paediatric or syndromic cardiomyopathy Level 2: Cardiology Version 8.5 Latest signed off version: v8.4 (12 Aug 2026) Component of the following Super Panels: Unexplained death in infancy and sudden unexplained death in childhood	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Red London South GLH Phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600 B3GAT3-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Red B3GAT3 in Dystonia, chorea or related movement disorder, childhood onset Level 2: Neurology Version 8.14 Latest signed off version: v8.13 (12 Aug 2026)	review	Not set	Sources Expert Review Red London North GLH