B4GALT7

beta-1,4-galactosyltransferase 7
OMIM: 604327
PanelMode of inheritanceDetails
8 panels
Component of the following Super Panels:
  • - Hereditary ataxia and cerebellar anomalies - childhood onset
Signed-off version 2.4
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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME PROGEROID TYPE 130070
R-numbers: R101
Signed-off version 2.3
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070, Spondylodysplastic EDS, spEDS-B4GALT7, Progeroid EDS, Spondylodysplastic EDS due to B4GALT7-deficiency, EDS progeroid type, Ehlers Danlos syndrome, progeroid type 1
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
EHLERS-DANLOS SYNDROME PROGEROID TYPE
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R98
Signed-off version 2.3
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), 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)
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, progeroid type, 1, 130070, EHLERS-DANLOS SYNDROME PROGEROID TYPE (EDSP)
R-numbers: R102
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Osteogenesis Imperfecta and Decreased Bone Density, skeletal dysplasias, Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies 130070