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Fetal anomalies

Gene: KIF21A

Green List (high evidence)
KIF21A (kinesin family member 21A)
EnsemblGeneIds (GRCh38): ENSG00000139116
EnsemblGeneIds (GRCh37): ENSG00000139116
OMIM: 608283, Gene2Phenotype
KIF21A is in 5 panels

3 reviews

Sarah Leigh (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to Green and the mode of inheritance set to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 10 Oct 2023, 3:39 p.m. | Last Modified: 10 Oct 2023, 3:39 p.m.
Panel Version: 3.111

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 10 Oct 2023, 3:39 p.m.
Last Modified: 10 Oct 2023, 3:39 p.m.
Panel version: 3.111

Arina Puzriakova (Genomics England Curator)

Comment on list classification: There is sufficient evidence to recommend this gene to NHS GMS for promoting to green rating.

There are two unrelated families with homozygous loss of function variants in KIF21A were reported with severe fetal akinesia with arthrogryposis multiplex in PMID:34740919. Hannah Robinson (South West Genomic Laboratory Hub) reported an additional case identified in Exeter Genomics Laboratory exhibiting homozygous nonsense variant in KIF21A and was diagnosed with arthrogryposis.

In addition, PMID:32686171 reports overlapping phenotypes observed in KIF21A null piglets, where a 63-bp insertion in exon 2 of the porcine KIF21A gene is associated with arthrogryposis multiplex congenita.
Created: 18 Apr 2023, 2:34 p.m. | Last Modified: 18 Apr 2023, 2:34 p.m.
Panel Version: 3.2
Created: 18 Apr 2023, 2:34 p.m.
Last Modified: 18 Apr 2023, 2:34 p.m.
Panel version: 3.2

Hannah Robinson (South West Genomic Laboratory Hub)

Green List (high evidence)

Falb et al 2023 (PMID: 34740919) describe two unrelated families in which biallelic loss of function variants segregated with a severe form of fetal akinesia characterised by arthrogryposis multiplex, pulmonary hypoplasia and variable facial dysmorphisms.

Exeter Genomics Laboratory has identified an unrelated third case homozygous for a nonsense variant in KIF21A. The patient had an antenatal diagnosis of talipes, arthrogryposis, polyhydramnios and lack of fetal movements. At birth, all joints displayed fixed flexion deformities, no primitive reflexes, poor muscle bulk and care was re-oriented shortly after birth.

Taken together, three unrelated cases including segregation evidence in the published families provides sufficient evidence for the gene-disease association.
Sources: Literature, NHS GMS
Created: 18 Jan 2023, 8:50 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Arthrogryposis; fetal akinesia

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 18 Jan 2023, 8:50 a.m.

Panel version: 2.8

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Arthrogryposis
  • fetal akinesia
OMIM
608283
Clinvar variants
Variants in KIF21A
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

10 Oct 2023, Gel status: 3

Removed Tag, Removed Tag

Sarah Leigh (Genomics England Curator)

Tag Q2_23_promote_green was removed from gene: KIF21A. Tag Q2_23_NHS_review was removed from gene: KIF21A.

10 Oct 2023, Gel status: 3

Added New Source, Status Update

Sarah Leigh (Genomics England Curator)

Source Expert Review Green was added to KIF21A. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

18 Apr 2023, Gel status: 2

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: KIF21A were set to 34740919

18 Apr 2023, Gel status: 2

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kif21a has been classified as Amber List (Moderate Evidence).

18 Apr 2023, Gel status: 0

Added Tag, Added Tag

Arina Puzriakova (Genomics England Curator)

Tag Q2_23_promote_green tag was added to gene: KIF21A. Tag Q2_23_NHS_review tag was added to gene: KIF21A.

18 Jan 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes, Set penetrance

Hannah Robinson (South West Genomic Laboratory Hub)

gene: KIF21A was added gene: KIF21A was added to Fetal anomalies. Sources: Literature,NHS GMS Mode of inheritance for gene: KIF21A was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: KIF21A were set to 34740919 Phenotypes for gene: KIF21A were set to Arthrogryposis; fetal akinesia Penetrance for gene: KIF21A were set to unknown Review for gene: KIF21A was set to GREEN gene: KIF21A was marked as current diagnostic