Genomics England

B3GLCT

beta 3-glucosyltransferase

Panel	Mode of inheritance	Details
Filter panels9 panels
Green in Bilateral congenital or childhood onset cataracts R-numbers: R31 Signed-off version 5.4	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peters-plus syndrome
Green in Clefting Component of the following Super Panels: - Paediatric disorders Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PETERS-PLUS SYNDROME
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 6.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peters-plus syndrome 261540, O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes PETERS-PLUS SYNDROME 261540
Green in Hydrocephalus R-numbers: R86 Signed-off version 5.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peters-plus syndrome, OMIM:261540
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peters-plus syndrome, 261540
Green in Likely inborn error of metabolism Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood R-numbers: R98 Signed-off version 6.14	BIALLELIC, autosomal or pseudoautosomal	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 in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 6.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peters-plus syndrome 261540, O-fucose-specific beta-1,3-N-glucosyltransferase deficiency (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies)
Green in Structural eye disease R-numbers: R36 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Peters-plus syndrome 261540, Eye Disorders