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  3. KIF26B
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Arthrogryposis

Gene: KIF26B

Red List (low evidence)
KIF26B (kinesin family member 26B)
EnsemblGeneIds (GRCh38): ENSG00000162849
EnsemblGeneIds (GRCh37): ENSG00000162849
OMIM: 614026, Gene2Phenotype
KIF26B is in 3 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: Rating Red as only a single case (PMID: 30151950) has been reported to this date.
Created: 13 Apr 2022, 2:24 p.m. | Last Modified: 13 Apr 2022, 2:24 p.m.
Panel Version: 3.159
Created: 13 Apr 2022, 2:24 p.m.
Last Modified: 13 Apr 2022, 2:24 p.m.
Panel version: 3.159

Zornitza Stark (Australian Genomics)

Red List (low evidence)

1 report only of infant with progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis secondary to the involvement of anterior horn cells and ventral (motor) nerves. Whole exome sequencing on the trio identified a de novo KIF26B missense variant (p.Gly546Ser). Functional analysis of the variant protein in cultured cells revealed a reduction in the KIF26B protein's ability to promote cell adhesion, a defect that potentially contributes to its pathogenicity.
Sources: Literature
Created: 3 Feb 2022, 11:39 p.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis

Publications

Created: 3 Feb 2022, 11:39 p.m.

Panel version: 3.147

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
Phenotypes
  • Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis
OMIM
614026
Clinvar variants
Variants in KIF26B
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 Apr 2022, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: kif26b has been classified as Red List (Low Evidence).

3 Feb 2022, Gel status: 0

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

Zornitza Stark (Australian Genomics)

gene: KIF26B was added gene: KIF26B was added to Arthrogryposis. Sources: Literature Mode of inheritance for gene: KIF26B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: KIF26B were set to 30151950 Phenotypes for gene: KIF26B were set to Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis Review for gene: KIF26B was set to RED