Ehlers Danlos syndrome with a likely monogenic cause
Gene: B4GALT7Comment 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 1Created: 18 Mar 2021, 1:31 p.m. | Last Modified: 18 Mar 2021, 1:31 p.m.
Panel Version: 2.12
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: greenCreated: 3 Apr 2019, 3:41 p.m.
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 EDSCreated: 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 phenotypeCreated: 29 Mar 2017, 12:38 p.m.
Comment on publications: At present seven patients from six families with molecularly confirmed spEDS-B4GALT7 have been identifiedCreated: 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 reviewerCreated: 29 Mar 2017, 11:56 a.m.
Comment on mode of inheritance: updated MOI due to reviewer recommendation and from data in publicationsCreated: 29 Mar 2017, 11:55 a.m.
https://eds.gene.le.ac.uk/home.php?select_db=B4GALT7Created: 24 Mar 2017, 2:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Progeroid EDS
Publications
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
Source NHS GMS was added to B4GALT7. Rating Changed from Green List (high evidence) to Green List (high evidence)
25 July 2017 Panel reviews were assessed, and panel was revised according to reviews and further curation.
Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078; 27320698; 26940150; 28306229;28306225
Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078; 27320698; 26940150; 28306229
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
This gene has been classified as Green List (High Evidence).
Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078; 27320698;26940150; 28306229
Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246; 3631078;27320698 26940150;28306229
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
Publications for B4GALT7 were set to 23956117; 10506123; 10473568; 12417421; 15859521; 15211654; 15589118; 16583246
Mode of inheritance for B4GALT7 was changed to BIALLELIC, autosomal or pseudoautosomal
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
B4GALT7 was created by ellenmcdonagh
B4GALT7 was added to Ehlers-Danlos syndromespanel. Sources: Radboud University Medical Center, Nijmegen,Expert list