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| Arthrogryposis v1.4 | KIF21A | Rylee Peters Phenotypes for gene: KIF21A were changed from Severe fetal akinesia with arthrogryposis multiplex to Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.3 | KIF21A | Rylee Peters Publications for gene: KIF21A were set to PMID: 34740919 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.2 | KIF21A | Rylee Peters Classified gene: KIF21A as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.2 | KIF21A | Rylee Peters Gene: kif21a has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v1.1 | KIF21A | Rylee Peters reviewed gene: KIF21A: Rating: GREEN; Mode of pathogenicity: None; Publications: 37921537, 34740919, 32686171; Phenotypes: Arthrogryposis multiplex congenita, MONDO:0015168, KIF21A-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.630 | KIF21A | Zornitza Stark Marked gene: KIF21A as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.630 | KIF21A | Zornitza Stark Gene: kif21a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.397 | KIF21A | Chirag Patel Classified gene: KIF21A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.397 | KIF21A | Chirag Patel Gene: kif21a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Arthrogryposis v0.396 | KIF21A |
Chirag Patel gene: KIF21A was added gene: KIF21A was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF21A were set to PMID: 34740919 Phenotypes for gene: KIF21A were set to Severe fetal akinesia with arthrogryposis multiplex Review for gene: KIF21A was set to AMBER Added comment: 2 unrelated consanguineous Turkish families with 5 affected fetuses with severe fetal akinesia with arthrogryposis multiplex. WES identified different homozygous LOF variants in KIF21A gene (p.Leu449* and p.Arg791Glufs*8). Parents and a healthy sibling were heterozygous carriers. No functional studies. Sources: Literature |
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