Clefting disorders
Gene: B3GALT6
B3GALT6 (beta-1,3-galactosyltransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 13 panels
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 13 panels
0 reviews
Details
- Mode of Inheritance
- Unknown
- Sources
-
- Expert Review Amber
- Phenotypes
-
- SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES
- Ehlers-Danlos syndrome, progeroid type, 2 615349
- SEMDJL1
- OMIM
- 615291
- Clinvar variants
- Variants in B3GALT6
- Penetrance
- None
- Panels with this gene
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Clefting disorders
- Prepair 1000+
- Arthrogryposis
- Osteogenesis Imperfecta and Osteoporosis
- Multiple joint dislocations and laxity
- Mendeliome
- Aortopathy_Connective Tissue Disorders
- Intellectual disability syndromic and non-syndromic
- Transplant Co-Morbidity Superpanel
History Filter Activity
16 Sep 2020, Gel status: 2
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: B3GALT6 was added gene: B3GALT6 was added to Clefting_GEL. Sources: Expert Review Amber Mode of inheritance for gene: B3GALT6 was set to Unknown Phenotypes for gene: B3GALT6 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 1, WITH OR WITHOUT FRACTURES; Ehlers-Danlos syndrome, progeroid type, 2 615349; SEMDJL1