B3GLCT

beta 3-glucosyltransferase
OMIM: 610308, Gene2Phenotype

17 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 17 panels
Red B3GLCT in Glaucoma (developmental) Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.45	review	Not set	Sources Expert Review Green NHS GMS Emory Genetics Laboratory Phenotypes Eye Disorders
Green B3GLCT in Hydrocephalus Version 4.4 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature Phenotypes Peters-plus syndrome, OMIM:261540
Green B3GLCT in Congenital disorders of glycosylation Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 4.18 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Radboud University Medical Center, Nijmegen Literature Illumina TruGenome Clinical Sequencing Services Emory Genetics Laboratory Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GLCT in Bilateral congenital or childhood onset cataracts Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green UKGTN Phenotypes Peters-plus syndrome
Green B3GLCT in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green GDL Corneal Abnormalities panel Phenotypes Peters-plus syndrome 261540
Green B3GLCT in Ocular coloboma Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.47	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Peters-plus syndrome, 261540
Green B3GLCT in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 4.63 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert Review Phenotypes Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GLCT in Undiagnosed metabolic disorders Level 3: Specific metabolic abnormalities Level 2: Metabolic disorders Version 1.617	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Literature Phenotypes O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GLCT in Likely inborn error of metabolism - targeted testing not possible Version 4.137 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant 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 Peters-plus syndrome 261540 O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies) O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green B3GLCT in Fetal anomalies Version 3.164 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources PAGE Additional Gene List Expert Review Green Phenotypes PETERS-PLUS SYNDROME 261540
Green B3GLCT in Clefting Level 3: Dysmorphic disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 4.110 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes PETERS-PLUS SYNDROME
Red B3GLCT in Anophthalmia or microphthalmia Level 3: Ocular malformations Level 2: Ophthalmological disorders Version 1.51	review	Not set	Sources Emory Genetics Laboratory
Green B3GLCT in Intellectual disability - microarray and sequencing Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 5.544 Latest signed off version: v5.0 (22 Mar 2023) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Emory Genetics Laboratory Radboud University Medical Center, Nijmegen Phenotypes Peters-plus syndrome, 261540
Red B3GLCT in Retinal disorders Level 3: Posterior segment abnormalities Level 2: Ophthalmological disorders Version 4.90 Latest signed off version: v4.0 (22 Mar 2023)	review	Not set	Sources NHS GMS Expert Review Red Phenotypes Eye Disorders
Green B3GLCT in Structural eye disease Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Peters-plus syndrome 261540 Eye Disorders
Red B3GLCT in Childhood onset dystonia, chorea or related movement disorder Version 3.77 Latest signed off version: v3.0 (22 Mar 2023)	review	Not set	Sources Expert Review Red London North GLH
Green B3GLCT in Severe Paediatric Disorders Version 1.184	review	BIALLELIC, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Peters-plus syndrome, 261540