KIF22

kinesin family member 22
OMIM: 603213, ClinGen, DECIPHER

5 panels

Panel Reviews Mode of inheritance Details
5 panels

Green KIF22 in Mendeliome


Version 2.636

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546

Green KIF22 in Skeletal dysplasia

Level 3: Skeletal dysplasias
Level 2: Skeletal disorders
Version 1.153

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • UKGTN
  • Radboud University Medical Center, Nijmegen
  • NHS GMS
  • Expert list
  • Emory Genetics Laboratory
  • Victorian Clinical Genetics Services
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546

Red KIF22 in Clefting disorders

Level 3: Dysmorphic disorders
Level 2: Dysmorphic and congenital abnormality syndromes
Version 1.57

0 reviews MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Red
Phenotypes
  • SEMDJL2
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2, 603546

Green KIF22 in Fetal anomalies


Version 2.91

2 reviews BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Genomics England PanelApp
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546

Red KIF22 in Genomic newborn screening: BabyScreen+


Level 2: Screening
Version 2.13

0 reviews MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category C gene
  • Expert Review Red
Phenotypes
  • Spondyloepimetaphyseal dysplasia with joint laxity, type 2