Multiple joint dislocations and laxity
Gene: B3GAT3EnsemblGeneIds (GRCh38): ENSG00000149541
EnsemblGeneIds (GRCh37): ENSG00000149541
OMIM: 606374, Gene2Phenotype
B3GAT3 is in 16 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
26 patients from 13 families with variable phenotypes resembling Larsen, Antley-Bixler, Shprintzen-Goldberg, and Geroderma osteodysplastica syndromes. Multiple skeletal and cardiac abnormalities reported.Created: 28 Nov 2020, 4:53 a.m. | Last Modified: 8 Nov 2021, 9:59 p.m.
Panel Version: 0.9661
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Multiple joint dislocations, short stature, craniofacial dysmorphism, with or without congenital heart defects, MIM# 245600
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Radboud University Medical Center, Nijmegen
- NHS GMS
- Expert Review Green
- Victorian Clinical Genetics Services
- 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
-
- Mackenzie's Mission_Reproductive Carrier Screening
- Clefting disorders
- Prepair 1000+
- Cardiomyopathy_Paediatric
- BabyScreen+ newborn screening
- Intellectual disability syndromic and non-syndromic
- Craniosynostosis
- Short Long Bones with Advanced Carpal Bone Age
- Congenital Disorders of Glycosylation
- Skeletal dysplasia
- Fetal anomalies
- Additional findings_Paediatric
- Skeletal Dysplasia_Fetal
- Congenital Heart Defect
- Multiple joint dislocations and laxity
- Mendeliome
History Filter Activity
Added New Source, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)Source Victorian Clinical Genetics Services was added to B3GAT3. Added phenotypes Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600; Larsen alike phenotype (skd incl) for gene: B3GAT3
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Tiong Tan (Victorian Clinical Genetics Services)gene: B3GAT3 was added gene: B3GAT3 was added to Multiple joint dislocations and laxity. Sources: Expert Review Green,NHS GMS,Radboud University Medical Center, Nijmegen Mode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: B3GAT3 were set to Larsen alike phenotype (skd incl); Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600