Skeletal dysplasia
Gene: B4GALT7

B4GALT7 (beta-1,4-galactosyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 13 panels

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Listed in OI and decreasing bone density gp of SD. At least 3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies 130070

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: B4GALT7; 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: Four variants reported in this phenotype
Created: 13 Jul 2016, 7:45 a.m.

Comment on list classification: Tier 2 gene for skeletal dysplasia (Ana Beleza)
Created: 11 Jul 2016, 10:41 a.m.

Created: 11 Jul 2016, 10:41 a.m.

Panel version: 0.402

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
Ehlers-Danlos syndrome with short stature and limb anomalies 130070

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
Expert list
UKGTN
Radboud University Medical Center, Nijmegen
Emory Genetics Laboratory

Phenotypes

Ehlers-Danlos syndrome with short stature and limb anomalies 130070

OMIM

604327

Clinvar variants

Variants in B4GALT7

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Ehlers-Danlos syndrome with short stature and limb anomalies 130070 for gene: B4GALT7

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to B4GALT7. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4