Skeletal dysplasia
Gene: B3GAT3

B3GAT3 (beta-1,3-glucuronyltransferase 3)
EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 11 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Neither gene nor 245600 listed in SD nosology paper. AR. The 3 reported cases have short stature (OMIM).; Review on behalf of Tracy Lester
Created: 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

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

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: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Three variants reported in this phenotype
Created: 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.

Created: 21 Jun 2016, 12:29 p.m.

Panel version: 0.11

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 2
Created: 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

Created: 17 Jun 2016, 8:01 a.m.

Panel version: 0.4

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

NHS GMS
Expert Review Green
Radboud University Medical Center, Nijmegen

Phenotypes

Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Larsen alike phenotype (skd incl)

OMIM

606374

Clinvar variants

Variants in B3GAT3

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl) for gene: B3GAT3

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to B3GAT3. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4