Skeletal dysplasia
Gene: KIF22

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

Dysplasias with nultiple joint dislocations gp of SD >3 cases; Review on behalf of Tracy Lester
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546

Created: 6 Mar 2019, 11:44 a.m.

Panel version: 1.147

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: KIF22; Initial rating suggestion: green
Created: 6 Mar 2019, 11:36 a.m.

Created: 6 Mar 2019, 11:36 a.m.

Panel version: 1.146

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.
Created: 12 Jul 2016, 8:44 a.m.

Created: 12 Jul 2016, 8:44 a.m.

Panel version: 0.515

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:05 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546

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

Created: 17 Jun 2016, 8:05 a.m.

Panel version: 0.4

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Sources

NHS GMS
Expert Review Green
Emory Genetics Laboratory
Radboud University Medical Center, Nijmegen
Expert list
UKGTN

Phenotypes

Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546

OMIM

603213

Clinvar variants

Variants in KIF22

Penetrance

Complete

Panels with this gene

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 for gene: KIF22

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to KIF22. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4