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Arthrogryposis v0.391 B3GALT6 Zornitza Stark Marked gene: B3GALT6 as ready
Arthrogryposis v0.391 B3GALT6 Zornitza Stark Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.376 B3GALT6 Chirag Patel Classified gene: B3GALT6 as Amber List (moderate evidence)
Arthrogryposis v0.376 B3GALT6 Chirag Patel Gene: b3galt6 has been classified as Amber List (Moderate Evidence).
Arthrogryposis v0.375 B3GALT6 Chirag Patel 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
Added comment: 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