Skeletal dysplasia
Gene: B3GAT3
Neither gene nor 245600 listed in SD nosology paper. AR. The 3 reported cases have short stature (OMIM).; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:44 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
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: B3GAT3; Initial rating suggestion: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Three variants reported in this phenotypeCreated: 13 Jul 2016, 7:44 a.m.
Comment on list classification: Used diagnostically by Ana Beleza (Guy's and St Thomas' NHS Foundation Trust)Created: 21 Jun 2016, 12:29 p.m.
Tier 2Created: 17 Jun 2016, 8:01 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects 245600
Variants in this GENE are reported as part of current diagnostic practice
Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl) for gene: B3GAT3
Source NHS GMS was added to B3GAT3. 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).
Mode of inheritance for B3GAT3 was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
B3GAT3 was added to Unexplained skeletal dysplasiapanel. Source: Radboud University Medical Center, Nijmegen
B3GAT3 was added to Unexplained skeletal dysplasiapanel. Sources:
B3GAT3 was created by sleigh