Arthrogryposis
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
1 review
Chirag Patel (Genetic Health Queensland)
Al-Gazali syndrome (ALGAZ) is characterized by prenatal growth retardation, skeletal anomalies including joint contractures, camptodactyly, and bilateral talipes equinovarus, small mouth, anterior segment eye anomalies, and early lethality.
In an infant with Al-Gazali syndrome, Sellars et al. (2014) identified compound heterozygous missense mutations in the B3GALT6 gene. The mutation, which was found by exome sequencing, segregated with the disorder in the family.
In 1 of the Palestinian infants with Al-Gazali syndrome reported by al-Gazali et al. (1999), Ben-Mahmoud et al. (2018) identified homozygosity for a missense mutation in the B3GALT6 gene. The parents were heterozygous for the mutation.
Sources: Expert listCreated: 22 Mar 2023, 11:50 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Al-Gazali syndrome, OMIM #609465
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Expert list
- Phenotypes
-
- Al-Gazali syndrome, OMIM #609465
- OMIM
- 615291
- Clinvar variants
- Variants in B3GALT6
- Penetrance
- None
- Publications
- 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
23 Mar 2023, Gel status: 2
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
22 Mar 2023, Gel status: 2
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
22 Mar 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)gene: B3GALT6 was added gene: B3GALT6 was added to Arthrogryposis. Sources: Expert list Mode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GALT6 were set to PMID: 29443383, 25149931 Phenotypes for gene: B3GALT6 were set to Al-Gazali syndrome, OMIM #609465 Review for gene: B3GALT6 was set to AMBER