Genomics England

B3GALT6

beta-1,3-galactosyltransferase 6

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Congenital disorders of glycosylation Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640, EHLERS-DANLOS SYNDROME 130070
Green in Ehlers Danlos syndromes R-numbers: R101 Signed-off version 2.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers Danlos syndrome, progeroid type, 2, 615349, Spondylodysplastic EDS, spEDS-B3GALT6, Progeroid EDS, Spondylodysplastic EDS due to B3GALT6-deficiency, EDS progeroid type 2, EDS B3GALT6
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 2.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1, EHLERS-DANLOS SYNDROME
Green in Inborn errors of metabolism Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R98 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, progeroid type, 2
Green in Osteogenesis imperfecta R-numbers: R102 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Disproportionate Short Stature
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 3.1	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640