Skeletal dysplasia
Gene: KIF22
Dysplasias with nultiple joint dislocations gp of SD >3 cases; Review on behalf of Tracy LesterCreated: 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
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: greenCreated: 6 Mar 2019, 11:36 a.m.
Comment when marking as ready: Associated with phenotype in G2P. Numerous variants reported in this phenotype.Created: 12 Jul 2016, 8:44 a.m.
Tier 1Created: 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
Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 for gene: KIF22
Source NHS GMS was added to KIF22. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
Phenotypes for KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
Mode of inheritance for KIF22 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
KIF22 was added to Unexplained skeletal dysplasiapanel. Sources: Emory Genetics Laboratory,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
KIF22 was created by sleigh
KIF22 was added to Unexplained skeletal dysplasiapanel. Sources: