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| Multiple pterygium syndrome_Fetal akinesia sequence v1.3 | KIF21A | Chirag Patel Classified gene: KIF21A as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v1.3 | KIF21A | Chirag Patel Gene: kif21a has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Multiple pterygium syndrome_Fetal akinesia sequence v1.2 | KIF21A |
Chirag Patel gene: KIF21A was added gene: KIF21A was added to Multiple pterygium syndrome_Fetal akinesia sequence. 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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