B3GALT6

beta-1,3-galactosyltransferase 6
OMIM: 615291
PanelMode of inheritanceDetails
7 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, 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 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1 271640, EHLERS-DANLOS SYNDROME 130070
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
R-numbers: R21
Signed-off version 1.92
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY TYPE 1, EHLERS-DANLOS SYNDROME
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, progeroid type, 2
R-numbers: R102
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Disproportionate Short Stature
Component of the following Super Panels:
  • - Paediatric disorders
R-numbers: R104
Signed-off version 2.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, progeroid type, 2 615349, Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640