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Arthrogryposis

Gene: B3GALT6

Amber List (moderate evidence)

B3GALT6 (beta-1,3-galactosyltransferase 6)
EnsemblGeneIds (GRCh38): ENSG00000176022
EnsemblGeneIds (GRCh37): ENSG00000176022
OMIM: 615291, Gene2Phenotype
B3GALT6 is in 13 panels

1 review

Chirag Patel (Genetic Health Queensland)

I don't know

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 list
Created: 22 Mar 2023, 11:50 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Al-Gazali syndrome, OMIM #609465

Publications

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