Ehlers Danlos syndromes

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

7 reviews

Ivone Leong (Genomics England Curator)

Comment on phenotypes: Previous phenotypes:
Ehlers-Danlos syndrome with short stature and limb anomalies, 130070;Spondylodysplastic EDS;spEDS-B4GALT7;Progeroid EDS;Spondylodysplastic EDS due to B4GALT7-deficiency;EDS progeroid type;Ehlers Danlos syndrome, progeroid type 1
Created: 18 Mar 2021, 1:31 p.m. | Last Modified: 18 Mar 2021, 1:31 p.m.
Panel Version: 2.12

Duncan Baker (Sheffield Genetics)

Green List (high evidence)

Eleanor Williams (Genomics England Curator)

I don't know

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, 3:41 p.m.

Angela Brady (Nhs)

Green List (high evidence)

Neeti Ghali (NWTRGS, Northwick Park Hospital)

Green List (high evidence)

Louise Daugherty (Genomics England Curator)

Comment on publications: added Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225)
Created: 18 Apr 2017, 12:50 p.m.
In relation to the EDS pathogenetic scheme, B4GALT7 belongs to 'Disorders of glycosaminoglycan biosynthesis'. The scheme regroups EDS subtypes for which the proteins, coded by the causative genes, function within the same pathway, and which are likely to have shared pathogenic mechanisms, based on current knowledge.
Created: 18 Apr 2017, 12:25 p.m.
This is a rare recessive form of EDS
Created: 30 Mar 2017, 11:23 a.m.
Comment on phenotypes: updated phenotypes based on reviewer comment and from publications, including clinical EDS subtype (The 2017 International Classification of the Ehlers–Danlos Syndromes. PMID:28306229)
Created: 29 Mar 2017, 3:45 p.m.
Comment on list classification: Changed status from Red to Green, there is enough evidence to support the EDS phenotype
Created: 29 Mar 2017, 12:38 p.m.
Comment on publications: At present seven patients from six families with molecularly confirmed spEDS-B4GALT7 have been identified
Created: 29 Mar 2017, 12:37 p.m.
In view of the major clinical overlap of EDS caused by B4GALT7 mutations with the phenotypes caused by B3GALT6 and SLC39A13 mutations, these three conditions are now grouped within the same clinical entity (“Spondylodysplastic EDS”) in the new EDS classification (PMID:28306229)
Created: 29 Mar 2017, 12:08 p.m.
Comment on publications: Added publications suggested by reviewer
Created: 29 Mar 2017, 11:56 a.m.
Comment on mode of inheritance: updated MOI due to reviewer recommendation and from data in publications
Created: 29 Mar 2017, 11:55 a.m.

Raymond Dalgleish (University of Leicester)

Green List (high evidence)

https://eds.gene.le.ac.uk/home.php?select_db=B4GALT7
Created: 24 Mar 2017, 2:54 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progeroid EDS

Publications

History Filter Activity

18 Mar 2021, Gel status: 3

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: B4GALT7 were changed from Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS; spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1 to Ehlers-Danlos syndrome, spondylodysplastic type, 1, OMIM:130070

13 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)

25 Jul 2017, Gel status: 4

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.

18 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078; 27320698; 26940150; 28306229;28306225

18 Apr 2017, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078; 27320698; 26940150; 28306229

18 Apr 2017, Gel status: 4

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS;spEDS-B4GALT7; Progeroid EDS; Spondylodysplastic EDS due to B4GALT7-deficiency; EDS progeroid type; Ehlers Danlos syndrome, progeroid type 1

29 Mar 2017, Gel status: 4

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

29 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078; 27320698;26940150; 28306229

29 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078;27320698 26940150;28306229

29 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies, 130070; Spondylodysplastic EDS (spEDS), Progeroid EDS; SPONDYLODYSPLASTIC EDS DUE TO B4GALT7-DEFICIENCY; EDS progeroid type; EDS progeroid type 1;Ehlers Danlos syndrome, progeroid type 1

29 Mar 2017, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246

29 Mar 2017, Gel status: 1

Set Mode of Inheritance

Louise Daugherty (Genomics England Curator)

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

29 Mar 2017, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for B4GALT7 were set to Ehlers Danlos syndrome, progeroid type, 1, 130070; Spondylodysplastic EDS (spEDS), Progeroid EDS;SPONDYLODYSPLASTIC EDS DUE TO B4GALT7-DEFICIENCY;EDS progeroid type;EDS progeroid type 1;Ehlers-Danlos syndrome with short stature and limb anomalies

24 Jan 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

B4GALT7 was created by ellenmcdonagh

24 Jan 2017, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

B4GALT7 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list