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Osteogenesis imperfecta

Gene: B4GALT7

Green List (high evidence)

B4GALT7 (beta-1,4-galactosyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 14 panels

6 reviews

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Following discussion with Dr Balasubramanian - rate green. Can have osteopenia, advanced bone age. PMID: 26940150 Mutations in this gene have been associated with the rare progeroid form of Ehlers Danlos syndrome and in addition more recently found to underlie Larsen of Reunion Island syndrome. Nine individuals have been reported with a diagnosis of the progeroid form of Ehlers Danlos syndrome, four of whom have had molecular characterization showing homozygous or compound heterozygous mutations in B4GALT7. We report two newly described patients with compound heterozygous mutations in B4GALT7, and show that the six individuals with confirmed mutations do not have the progeroid features described in the original five patients with a clinical diagnosis of the progeroid form of Ehlers Danlos syndrome. Results in a clinically recognizable syndrome comprising short stature, joint hypermobility, radioulnar synostosis, and severe hypermetropia. This group of syndromic patients are on a phenotypic spectrum with individuals who have Larsen of Reunion Island syndrome, although the key features of osteopenia, fractures and hypermetropia have not been reported in patients from Reunion Island.
Created: 3 Apr 2019, 4:14 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070

Publications

Eleanor Williams (Genomics England Curator)

I don't know

Comment on list classification: This gene was discussed in the GMS musculoskeletal specialist test group Webex on 2019-06-04. It was decided that due to further evidence, it should be made green.
Created: 11 Jun 2019, 3:19 p.m.
This gene was discussed in the GMS musculoskeletal specialist test group Webex on 2019-06-04. It was decided that due to further evidence, it should be made green.
Created: 11 Jun 2019, 1:17 p.m.
Associated with Ehlers-Danlos syndrome, spondylodysplastic type, 1 (#130070) in OMIM.

PMID: 26940150 - Salter et al 2016 - two unrelated patients with compound heterozygous mutations in B4GALT7. Both showed osteopenia (one with fractures, other patient had mild osteopenia). They review the phenotypes reported in previous cases (Table 1): 1 case with osteopenia reported in Faiyaz‐Ul‐Haque et al. [2004] , 1 case reported in Kresse et al. [1987] (with possible rib fracture).

Summary: 3 cases of patients with homozygous or compound heterozygous variants in B4GALT7 and osteopenia, 2 with fractures.
Created: 11 Jun 2019, 12:55 p.m.
This gene was part of an initial gene list collated by Duncan Baker, Sheffield Diagnostic Genetics Service, January 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: B4GALT7; Suggested initial gene rating: green
Created: 3 Apr 2019, 4:08 p.m.

Chris Boustred (Genomics England)

Comment when marking as ready: Keep as red as disagreement between expert reviewers are query association with OI
Created: 10 May 2016, 3:13 p.m.

Raymond Dalgleish (University of Leicester)

Variants in this gene cause progeroid EDS. Why should this be considered to be an OI gene?
Created: 8 Dec 2015, noon

Meena Balasubramanian (Sheffield Children's NHS Foundation Trust)

Green List (high evidence)

Progeroid EDS
Created: 27 Nov 2015, 3:03 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Rebecca Pollitt (Sheffield Diagnostic Genetics Service ; University of Sheffield)

Red List (low evidence)

There is insufficient evidence to support a causal role of this gene in this particular disease
Created: 6 Oct 2015, 11:35 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
EDS progeroid

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • Emory Genetics Laboratory
Phenotypes
  • Osteogenesis Imperfecta and Decreased Bone Density
  • skeletal dysplasias
  • Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070
OMIM
604327
Clinvar variants
Variants in B4GALT7
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

11 Jun 2019, Gel status: 3

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: b4galt7 has been classified as Green List (High Evidence).

11 Jun 2019, Gel status: 1

Set mode of inheritance

Eleanor Williams (Genomics England Curator)

Mode of inheritance for gene: B4GALT7 was changed from to BIALLELIC, autosomal or pseudoautosomal

11 Jun 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: B4GALT7 were set to 15211654; 26940150

15 May 2019, Gel status: 1

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: B4GALT7 were set to

15 May 2019, Gel status: 1

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: B4GALT7 were changed from Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias to Osteogenesis Imperfecta and Decreased Bone Density; skeletal dysplasias; Ehlers-Danlos syndrome, spondylodysplastic type, 1 130070

13 Mar 2019, Gel status: 1

Added New Source

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to B4GALT7.

10 May 2016, Gel status: 1

Gene classified by Genomics England curator

Chris Boustred (Genomics England)

This gene has been classified as Red List (Low Evidence).

23 Jun 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GALT7 was added to Osteogenesis Imperfecta panel. Sources: Emory Genetics Laboratory