Skeletal dysplasia
Gene: B3GALT6
271640 listed under Dysplasias with nultiple joint dislocations gp of SD - >3 cases reported; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 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
This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: B3GALT6; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotypes in G2P. Numerous variants reported in these phenotypes.Created: 13 Jul 2016, 7:43 a.m.
Tier 1Created: 17 Jun 2016, 8:01 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
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640 for gene: B3GALT6
Source NHS GMS was added to B3GALT6. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for B3GALT6 were set to Ehlers-Danlos syndrome, progeroid type, 2 615349; Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures 271640
B3GALT6 was added to Unexplained skeletal dysplasiapanel. Source: Emory Genetics Laboratory B3GALT6 was added to Unexplained skeletal dysplasiapanel. Source: Expert Review Green Model of inheritance for gene B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal
B3GALT6 was added to Unexplained skeletal dysplasiapanel. Sources:
B3GALT6 was created by sleigh