Skeletal dysplasia
Gene: B4GALT7EnsemblGeneIds (GRCh38): ENSG00000027847
EnsemblGeneIds (GRCh37): ENSG00000027847
OMIM: 604327, Gene2Phenotype
B4GALT7 is in 12 panels
2 reviews
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
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, 9:02 a.m. | Last Modified: 13 Nov 2020, 9:02 a.m.
Panel Version: 0.5362
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070
Publications
Elena Savva (Victorian Clinical Genetics Services)
Loss of function - missense variants in transfected CHO cells shown to have reduced/no enzyme activity and protein mislocalization (PMID: 31278392).
partial K/O zebrafish replicated the human phenotype and these variants still have an AR mode of inheritance (PMID: 31862401, PMID: 31614862).Created: 13 Nov 2020, 3:28 a.m. | Last Modified: 13 Nov 2020, 3:28 a.m.
Panel Version: 0.5357
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
PMID: 31278392; 31614862; 31862401
Publications
- Ehlers-Danlos syndrome, spondylodysplastic type, 1, 130070
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- UKGTN
- Expert Review Green
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert list
- Emory Genetics Laboratory
- Victorian Clinical Genetics Services
- Phenotypes
-
- Ehlers-Danlos syndrome with short stature and limb anomalies 130070
- OMIM
- 604327
- Clinvar variants
- Variants in B4GALT7
- Penetrance
- None
- 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
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: B4GALT7 was added gene: B4GALT7 was added to Skeletal dysplasia. Sources: Emory Genetics Laboratory,Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,Expert Review Green,UKGTN 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