Ehlers Danlos syndrome with a likely monogenic cause

Gene: B3GALT6

Comment on phenotypes: Previous phenotypes:
Ehlers Danlos syndrome, progeroid type, 2, 615349;Spondylodysplastic EDS;spEDS-B3GALT6;Progeroid EDS;Spondylodysplastic EDS due to B3GALT6-deficiency;EDS progeroid type 2;EDS B3GALT6

Created: 18 Mar 2021, 1:30 p.m. | Last Modified: 18 Mar 2021, 1:30 p.m.

Panel Version: 2.11

Green List (high evidence)

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: B3GALT6; Suggested initial gene rating: green

Created: 3 Apr 2019, 3:41 p.m.

Green List (high evidence)

Green List (high evidence)

Comment on publications: The 2017 International Classification of the Ehlers–Danlos Syndromes. Malfait et al., 2017 (PMID:28306229), Ehlers–Danlos Syndromes, Rare Types, Brady et al., 2017 (PMID:28306225)

Created: 18 Apr 2017, 12:49 p.m.

In relation to the EDS pathogenetic scheme, B4GALT6 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, 12:47 p.m.

Comment on list classification: Changed status from Red to Green due to reviewer comments and evidence in publications to support EDS phenotype

Created: 18 Apr 2017, 12:28 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, 3:44 p.m.

In view of the major clinical overlap of EDS caused by B4GALT6 mutations with the phenotypes caused by B3GALT7 and by 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, 12:06 p.m.

Comment on publications: PMID:28306229 : 47 patients from 36 families with molecularly confirmed spEDS- B3GALT6 have been identified

Created: 29 Mar 2017, 11:14 a.m.

Comment on mode of inheritance: MOI added from suggestion made from the reviewer and from publications

Created: 29 Mar 2017, 9:32 a.m.

Comment on publications: added relevant publications suggested by reviewer

Created: 29 Mar 2017, 9:21 a.m.

Green List (high evidence)

This is an established gene for a rare type of EDS:

https://eds.gene.le.ac.uk/home.php?select_db=B3GALT6

Created: 24 Mar 2017, 2:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Progeroid EDS; EDS B3GALT6

Publications

• PMID: 23664117
• 23664118