| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Fetal anomalies v1.551 | KIF22 | Zornitza Stark Publications for gene: KIF22 were set to 25256152; 22152677; 22152678 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.550 | KIF22 | Zornitza Stark Mode of inheritance for gene: KIF22 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.549 | KIF22 |
Zornitza Stark edited their review of gene: KIF22: Added comment: PMID 38477767 reports six individuals from six unrelated families (three with a homozygous c.146G>A p.Arg49Gln recessive variant and three with heterozygous c.443C>T p.Pro148Leu or c.446G>A p.Arg149Gln dominant variants) presenting with spondyloepimetaphyseal dysplasia with joint laxity, leptodactylic type (lepto‑SEMDJL). All patients display short stature, generalized joint laxity, multiple dislocations, scoliosis, and characteristic radiographic findings. Evidence for recessive disease is limited to the one variant, albeit in three families (?founder).; Changed publications: 25256152, 38477767; Changed phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2, MIM# 603546; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.549 | Zornitza Stark Added reviews for gene KIF22 from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.645 | KIF22 | Zornitza Stark reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.645 | KIF22 | Zornitza Stark Marked gene: KIF22 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.645 | KIF22 | Zornitza Stark Gene: kif22 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.644 | KIF22 | Zornitza Stark Phenotypes for gene: KIF22 were changed from SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 to Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.643 | KIF22 | Zornitza Stark Publications for gene: KIF22 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.641 | KIF22 | Zornitza Stark Mode of pathogenicity for gene: KIF22 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.582 | KIF22 | Ain Roesley reviewed gene: KIF22: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25256152, 22152677, 22152678; Phenotypes: Spondyloepimetaphyseal dysplasia with joint laxity, type 2 MIM#603546; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | KIF22 |
Zornitza Stark gene: KIF22 was added gene: KIF22 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: KIF22 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: KIF22 were set to SPONDYLOEPIMETAPHYSEAL DYSPLASIA WITH JOINT LAXITY, TYPE 2 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||