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Fetal anomalies

Gene: SIK3

Green List (high evidence)

SIK3 (SIK family kinase 3)
EnsemblGeneIds (GRCh38): ENSG00000160584
EnsemblGeneIds (GRCh37): ENSG00000160584
OMIM: 614776, Gene2Phenotype
SIK3 is in 1 panel

1 review

Rebecca Foulger (Genomics England curator)

Comment on list classification: Added SIK3 to panel as a Green gene following communication with Rhiannon Mellis. A mouse model (PMID:22318228) provides additional support: mice show skeletal anomalies (plus dwarfism postnatally).
Created: 21 Nov 2019, 10:58 a.m. | Last Modified: 21 Nov 2019, 10:58 a.m.
Panel Version: 0.350
Added to panel as suggested by Rhinannon Mellis. One pair of siblings with spondyloepimetaphyseal dysplasia reported in PMID:30232230 (Csukasi et al., 2018) plus one clinical case of suspected skeletal dysplasia prenatally.
Sources: Other
Created: 21 Nov 2019, 10:57 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Spondyloepimetaphyseal dysplasia, Krakow type, 618162

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Other
Phenotypes
  • Spondyloepimetaphyseal dysplasia, Krakow type, 618162
OMIM
614776
Clinvar variants
Variants in SIK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Nov 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: SIK3 were changed from ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to Spondyloepimetaphyseal dysplasia, Krakow type, 618162

21 Nov 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: sik3 has been classified as Green List (High Evidence).

21 Nov 2019, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: SIK3 was added gene: SIK3 was added to Fetal anomalies. Sources: Other Mode of inheritance for gene: SIK3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SIK3 were set to 30232230; 22318228 Phenotypes for gene: SIK3 were set to ?Spondyloepimetaphyseal dysplasia, Krakow type, 618162