GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: B3GALT6EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 11 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
271640 listed under Dysplasias with nultiple joint dislocations gp of SD - >3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ehlers-Danlos syndrome, progeroid type, 2 615349
- Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
- OMIM
- 615291
- Clinvar variants
- Variants in B3GALT6
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Osteogenesis imperfecta
- Intellectual disability
- Clefting
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: B3GALT6 was added gene: B3GALT6 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640