GMS Musculoskeletal specialist test group Skeletal dysplasia
Gene: B3GAT3EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 11 panels
1 review
Tracy Lester (Genetics laboratory, Oxford UK)
Neither gene nor 245600 listed in SD nosology paper. AR. The 3 reported cases have short stature (OMIM).; Review on behalf of Tracy LesterCreated: 6 Mar 2019, 11:52 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600
- Larsen alike phenotype (skd incl)
- OMIM
- 606374
- Clinvar variants
- Variants in B3GAT3
- Penetrance
- None
- Panels with this gene
-
- Paediatric or syndromic cardiomyopathy
- Likely inborn error of metabolism
- Congenital disorders of glycosylation
- Rare syndromic craniosynostosis or isolated multisuture synostosis
- Osteogenesis imperfecta
- Clefting
- Undiagnosed metabolic disorders
- Fetal anomalies
- DDG2P
- Skeletal dysplasia
- Childhood onset dystonia, chorea or related movement disorder
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Eleanor Williams (Genomics England Curator)gene: B3GAT3 was added gene: B3GAT3 was added to GMS Musculoskeletal specialist test group Skeletal dysplasia. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl)