Genomics England

B4GALT7

beta-1,4-galactosyltransferase 7

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070, B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
Green in Ehlers Danlos syndrome with a likely monogenic cause R-numbers: R101 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes EHLERS-DANLOS SYNDROME PROGEROID TYPE
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, progeroid type, 1, 130070, EHLERS-DANLOS SYNDROME PROGEROID TYPE (EDSP)
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 5.6	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070, B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies, Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies), B4GALT7-CDG (Disorders of protein O-glycosylation, O-mannosylglycan synthesis deficiencies), Beta-1,4-galactosyltransferase 7 deficiency (Disorders of protein O-glycosylation, O-xylosylglycan synthesis deficiencies)
Green in Osteogenesis imperfecta R-numbers: R102 Signed-off version 4.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 5.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070