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  3. KIF22
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Multiple joint dislocations and laxity

Gene: KIF22

Green List (high evidence)
KIF22 (kinesin family member 22)
EnsemblGeneIds (GRCh38): ENSG00000079616
EnsemblGeneIds (GRCh37): ENSG00000079616
OMIM: 603213, Gene2Phenotype
KIF22 is in 7 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

At least 5 unrelated families reported.
Created: 26 Feb 2021, 9:43 a.m. | Last Modified: 26 Feb 2021, 9:43 a.m.
Panel Version: 0.6471

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546

Publications

Created: 26 Feb 2021, 9:43 a.m.
Last Modified: 26 Feb 2021, 9:43 a.m.
Panel version: Imported from Mendeliome panel version 0.6471

Elena Savva (Victorian Clinical Genetics Services)

Green List (high evidence)

PTC variants: No pathogenic PTCs have been reported

missense variants: Unknown mechanism, likely DN. No functional studies have been performed but based on mutational spectrum DN is likely and has been suggested (PMID: 22152678).

Pro148 and Arg149 are a pathogenic missense hotspot (PMID: 22152677, PMID: 22152678)
Created: 26 Feb 2021, 1:36 a.m. | Last Modified: 26 Feb 2021, 1:36 a.m.
Panel Version: 0.6462

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

Phenotypes
Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546

Publications

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

Created: 26 Feb 2021, 1:36 a.m.
Last Modified: 26 Feb 2021, 1:36 a.m.
Panel version: Imported from Mendeliome panel version 0.6462

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • Emory Genetics Laboratory
  • NHS GMS
  • Expert Review Green
  • Expert list
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546
OMIM
603213
Clinvar variants
Variants in KIF22
Penetrance
None
Panels with this gene

History Filter Activity

12 Feb 2020, Gel status: 3

Added New Source, Set Phenotypes

Tiong Tan (Victorian Clinical Genetics Services)

Source Victorian Clinical Genetics Services was added to KIF22. Added phenotypes Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546 for gene: KIF22

12 Feb 2020, Gel status: 3

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

Tiong Tan (Victorian Clinical Genetics Services)

gene: KIF22 was added gene: KIF22 was added to Multiple joint dislocations and laxity. Sources: Expert list,Expert Review Green,NHS GMS,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,UKGTN Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: KIF22 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 603546