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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 2 panels

4 reviews

Ida Ertmanska (Genomics England Curator)

This gene and phenotype were reviewed during meetings in July and August 2026. The meetings included representatives of the North Thames and Central and South R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Natalie Chandler & Louise Carr (North Thames GLH), Sarah Graham & Elizabeth Young (Central & South GLH), and Alice Gardham, Esther Kinning, Vicki Harrison, Anna DeBurca, Natalie Canham, Sunayna Best, Soo-Mi Park & Tessa Homfray (R21 Clinical Oversight Group).
Created: 29 Oct 2026, 4:13 p.m. | Last Modified: 29 Oct 2026, 4:13 p.m.
Panel Version: 8.26
Created: 29 Oct 2026, 4:13 p.m.
Last Modified: 29 Oct 2026, 4:13 p.m.
Panel version: 8.26

Sarah Graham (West Midlands Regional Genetics Laboratory, Birmingham Women's and Children’s NHS Foundation Trust)

I don't know

Not green on any other panel; amber on skeletal dysplasia. Amber on Australian FA and skeletal dysplasia panels. One published case plus 3 in CVA from NHS clinical WGS (but not reported as causal) and supportive mouse model - see reviews on skeletal dysplasia panel for details of cases.
Created: 29 Oct 2026, 3:51 p.m. | Last Modified: 29 Oct 2026, 3:51 p.m.
Panel Version: 8.25

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571; Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162

Publications

Created: 29 Oct 2026, 3:51 p.m.
Last Modified: 29 Oct 2026, 3:51 p.m.
Panel version: 8.25

Eleanor Williams (Genomics England Curator)

Comment on phenotypes: OMIM phenotype accessed on 8th October 2025
Created: 8 Oct 2025, 9:28 a.m. | Last Modified: 8 Oct 2025, 9:28 a.m.
Panel Version: 6.94
Created: 8 Oct 2025, 9:28 a.m.
Last Modified: 8 Oct 2025, 9:28 a.m.
Panel version: 6.94

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

Created: 21 Nov 2019, 10:57 a.m.

Panel version: 0.349

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Green
  • Other
Phenotypes
  • spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571
  • Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162
  • ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162
OMIM
614776
Clinvar variants
Variants in SIK3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

29 Oct 2026, Gel status: 3

Added New Source, Set Phenotypes

Ida Ertmanska (Genomics England Curator)

Source NHS GMS was added to SIK3. Added phenotypes spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571; Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162 for gene: SIK3

8 Oct 2025, Gel status: 3

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Phenotypes for gene: SIK3 were changed from Spondyloepimetaphyseal dysplasia, Krakow type, 618162 to ?Spondyloepimetaphyseal dysplasia, Krakow type, OMIM:618162; spondyloepimetaphyseal dysplasia, Krakow type, MONDO:0032571

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