Multiple pterygium syndrome_Fetal akinesia sequence
Gene: KIF21A
KIF21A (kinesin family member 21A)
EnsemblGeneIds (GRCh38): ENSG00000139116
EnsemblGeneIds (GRCh37): ENSG00000139116
OMIM: 608283, Gene2Phenotype
KIF21A is in 8 panels
EnsemblGeneIds (GRCh38): ENSG00000139116
EnsemblGeneIds (GRCh37): ENSG00000139116
OMIM: 608283, Gene2Phenotype
KIF21A is in 8 panels
1 review
Chirag Patel (Genetic Health Queensland)
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: LiteratureCreated: 18 Apr 2023, 4:28 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Severe fetal akinesia with arthrogryposis multiplex
Publications
- PMID: 34740919
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Literature
- Phenotypes
-
- Severe fetal akinesia with arthrogryposis multiplex
- OMIM
- 608283
- Clinvar variants
- Variants in KIF21A
- Penetrance
- None
- Publications
-
- PMID: 34740919
- Panels with this gene
History Filter Activity
18 Apr 2023, Gel status: 2
Entity classified by Genomics England curator
Chirag Patel (Genetic Health Queensland)Gene: kif21a has been classified as Amber List (Moderate Evidence).
18 Apr 2023, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Chirag Patel (Genetic Health Queensland)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