| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Marked gene: SEC31A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Classified gene: SEC31A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.672 | SEC31A | Zornitza Stark Gene: sec31a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.671 | SEC31A |
Zornitza Stark gene: SEC31A was added gene: SEC31A was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: SEC31A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SEC31A were set to 30464055; 40508110 Phenotypes for gene: SEC31A were set to Halperin-Birk syndrome, MIM# 618651 Review for gene: SEC31A was set to AMBER Added comment: PMID 30464055 reports 2 individuals from 1 family with a homozygous frameshift duplication in SEC31A, and PMID 40508110 reports 1 individual from an unrelated family with a homozygous missense (p.Cys453Trp) variant; all present with severe congenital arthrogryposis, spastic quadriplegia, profound developmental delay, epilepsy, microcephaly and brain malformations. Sources: Literature |
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