Thoracic aortic aneurysm or dissection
Gene: B4GALT7
B4GALT7 (beta-1,4-galactosyltransferase 7)
EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 13 panels
3 reviews
Rebecca Whittington (South West GLH)
130070 spondylodysplastic Ehler's Danlos syndrome. Only 9 variants on HGMD, mostly missense. This is a progeriod Ehlers Danlos syndrome that does not have any cardiac involvement but does have other features of connective tissue syndromes.Created: 25 Mar 2019, 4:30 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Ellen McDonagh (Genomics England Curator)
Not on the Inherited Cardiac Condition Genes panel for Familial aortic anuerysm reported in: Development of a Comprehensive Sequencing Assay for Inherited Cardiac Condition Genes, Pua et al, Journal of Cardiovascular Translational Research, online Feb 2016 (doi:10.1007/s12265-016-9673-5). The panel contains disease-causing, putatively pathogenic, research and phenocopy genes.Created: 19 Feb 2016, 10:53 a.m.
Matina Prapa (Genomics England Curator)
No link to aneurysm formation.Created: 11 Feb 2016, 1:58 p.m.
Phenotypes
#130070- Ehlers-Danlos syndrome, progeroid type, 1
Publications
- PMID: 15211654
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- South West GLH
- Expert list
- OMIM
- 604327
- Clinvar variants
- Variants in B4GALT7
- Penetrance
- Complete
- Panels with this gene
-
- Congenital disorders of glycosylation
- Childhood onset dystonia, chorea or related movement disorder
- Likely inborn error of metabolism
- Thoracic aortic aneurysm or dissection (GMS)
- DDG2P
- Thoracic aortic aneurysm or dissection
- Intellectual disability
- Ehlers Danlos syndrome with a likely monogenic cause
- Fetal anomalies
- Undiagnosed metabolic disorders
- Skeletal dysplasia
- Osteogenesis imperfecta
- Clefting
History Filter Activity
21 Feb 2019, Gel status: 1
Added New Source, Set mode of inheritance
Ellen McDonagh (Genomics England Curator)Source South West GLH was added to B4GALT7. Mode of inheritance for gene B4GALT7 was changed from to BIALLELIC, autosomal or pseudoautosomal
3 Jul 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)B4GALT7 was added to Familial thoracic aortic aneurysms and dissectionpanel. Sources: Expert list