This Panel is marked as Deleted
GMS Musculoskeletal specialist test group Skeletal dysplasia
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
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Listed in OI and decreasing bone density gp of SD. At least 3 cases; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome with short stature and limb anomalies 130070
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ehlers-Danlos syndrome with short stature and limb anomalies 130070
- OMIM
- 604327
- Clinvar variants
- Variants in B4GALT7
- Penetrance
- None
- Panels with this gene
-
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Thoracic aortic aneurysm or dissection (GMS)
- Osteogenesis imperfecta
- Intellectual disability
- Thoracic aortic aneurysm or dissection
- Clefting
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Ehlers Danlos syndrome with a likely monogenic cause
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
6 Mar 2019, Gel status: 4
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: B4GALT7 was added gene: B4GALT7 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome with short stature and limb anomalies 130070