Congenital Disorders of Glycosylation
Gene: B4GALT7EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 12 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Galactosyltransferase I (UDP-galactose:O-beta-D-xylosylprotein 4-beta-D-galactosyltransferase) is involved in the synthesis of the glycosaminoglycan-protein linkage in proteoglycans.
Ehlers-Danlos syndrome spondylodysplastic type 1 is characterized by short stature, developmental anomalies of the forearm bones and elbow, and bowing of extremities, in addition to the classic stigmata of Ehlers-Danlos syndrome, including joint laxity, skin hyperextensibility, and poor wound healing. Significant developmental delay is not a consistent feature. p.Arg270Cys is a founder variant in Reunion Island.Created: 13 Nov 2020, 9:11 a.m. | Last Modified: 13 Nov 2020, 9:11 a.m.
Panel Version: 0.182
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
- Tags
- OMIM
- 604327
- Clinvar variants
- Variants in B4GALT7
- Penetrance
- None
- Publications
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Skeletal Dysplasia_Fetal
- Prepair 1000+
- Osteogenesis Imperfecta and Osteoporosis
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: b4galt7 has been classified as Green List (High Evidence).
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: B4GALT7 were changed from to Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: B4GALT7 were set to
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: B4GALT7 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Added Tag
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Tag founder tag was added to gene: B4GALT7.
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: B4GALT7 was added gene: B4GALT7 was added to Congenital Disorders of Glycosylation_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: B4GALT7 was set to Unknown