Microcephaly
Gene: KIF26B

KIF26B (kinesin family member 26B)
EnsemblGeneIds (GRCh38): ENSG00000162849
EnsemblGeneIds (GRCh37): ENSG00000162849
OMIM: 614026, Gene2Phenotype
KIF26B is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; 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: Expert Review
Created: 27 Jan 2022, 1:52 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis

Publications

30151950

Created: 27 Jan 2022, 1:52 a.m.

Panel version: 1.95

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

Expert Review Red
Expert Review

Phenotypes

Progressive microcephaly, pontocerebellar hypoplasia, and arthrogryposis

OMIM

614026

Clinvar variants

Variants in KIF26B

Penetrance

None

Publications

30151950

Panels with this gene

History Filter Activity

27 Jan 2022, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

27 Jan 2022, Gel status: 1

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