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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 |
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