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Intellectual disability syndromic and non-syndromic

Gene: SIK1

Green List (high evidence)

SIK1 (salt inducible kinase 1)
EnsemblGeneIds (GRCh38): ENSG00000142178
EnsemblGeneIds (GRCh37): ENSG00000142178
OMIM: 605705, Gene2Phenotype
SIK1 is in 5 panels

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

7 case reports identified in the literature. 6 de novo missense (3) or truncating (3) variants in children with developmental epilepsy in 2015 by Hansen et al (PMID: 25839329), and an additional missense (1)variant described in study by Xu et al 2022 (PMID 35267137) in child with infantile onset epilepsy. The later case initially curated as a VOUS, however functional studies (non-patient cells?) upgraded classification. Note: ClinGen curated as 'limited' in 2018. One new case report identified in the literature since then.
Created: 3 May 2022, 8:06 a.m. | Last Modified: 3 May 2022, 8:06 a.m.
Panel Version: 0.4721

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062

Publications

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Genetic Health Queensland
Phenotypes
  • Developmental and epileptic encephalopathy 30, MIM#616341
  • developmental and epileptic encephalopathy, MONDO#0100062
OMIM
605705
Clinvar variants
Variants in SIK1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

3 May 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: sik1 has been classified as Green List (High Evidence).

3 May 2022, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062

3 May 2022, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: SIK1 were set to

3 May 2022, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

22 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: SIK1 was added gene: SIK1 was added to Intellectual disability, syndromic and non-syndromic_GHQ. Sources: Expert Review Green,Genetic Health Queensland Mode of inheritance for gene: SIK1 was set to Unknown