| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Arthrogryposis v1.19 | PI4KA | Zornitza Stark Marked gene: PI4KA as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.19 | PI4KA | Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.19 | PI4KA | Zornitza Stark Classified gene: PI4KA as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.19 | PI4KA | Zornitza Stark Gene: pi4ka has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.18 | PI4KA |
Eleanor Ludington gene: PI4KA was added gene: PI4KA was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: PI4KA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PI4KA were set to PMID: 25855803 Phenotypes for gene: PI4KA were set to Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531 Review for gene: PI4KA was set to AMBER Added comment: 3 individuals from the same family described in PMID: 25855803 with biallelic PI4KA variants (nonsense variant and missense variant) presenting with arthrogryposis, polymicrogyria and cerebellar hypoplasia. Sources: Literature |
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