Clefting
Gene: KIF22

KIF22 (kinesin family member 22)
EnsemblGeneIds (GRCh38): ENSG00000079616
EnsemblGeneIds (GRCh37): ENSG00000079616
OMIM: 603213, Gene2Phenotype
KIF22 is in 6 panels

1 review

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

SEMDJL1 but not SEMDJL2 is typically associated with clefting. PMID 22653704 (Hazan et al., 2012) report a patient with a nonsense KIF11 mutation and midline cleft tongue, but this appears an isolated case.
Created: 31 May 2017, 11 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546; SEMDJL2

Publications

22653704

Created: 31 May 2017, 11 a.m.

Panel version: 0.284

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

Expert Review Red

Phenotypes

Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546
SEMDJL2

OMIM

603213

Clinvar variants

Variants in KIF22

Penetrance

Complete

Publications

22653704

Panels with this gene

History Filter Activity

31 May 2017, Gel status: 1

panel promoted to version 1

Louise Daugherty (Genomics England Curator)

Panel reviews were assessed, and panel was revised according to reviews and further curation 31st May 2017

31 May 2017, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

KIF22 was created by ellenmcdonagh