SIK1 Chromosome 21
Salt inducible kinase 1
Upload your DNA to see your personal genotypes for variants in SIK1.
What This Gene Does
This gene encodes a serine/threonine protein kinase that contains a ubiquitin-associated (UBA) domain. The encoded protein is a member of the adenosine monophosphate-activated kinase (AMPK) subfamily of kinases that play a role in conserved signal transduction pathways. A mutation in this gene is associated with early infantile epileptic encephalopathy 30. [provided by RefSeq, Nov 2016]
Gene Info
Gene Group
SIK family kinases
Locus Type
gene with protein product
Location
21q22.3
Ensembl
ENSG00000142178
Associated Conditions (5)
Developmental and epileptic encephalopathy
30
Inborn genetic diseases
Global developmental delay
Language disorder
Key Variants
RS1012778505
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS1163252803
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS1189551206
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS1243997625
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy
Health Risk
RS1352926525
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy
Health Risk
RS1362078144
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS143953116
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS1451348781
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS200402559
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy
Health Risk
RS200481902
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS201009426
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Inborn genetic diseases
Health Risk
RS2081056659
Conflicting classifications of pathogenicity
Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy
Health Risk
All Variants (59)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS786205162 | Health Risk | Conflicting classifications of pathogenicity | Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy |
| RS1256783641 | Health Risk | Likely pathogenic | Global developmental delay, Language disorder, Global developmental delay |
| RS2146471495 | Health Risk | Likely pathogenic | — |
| RS2516964679 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy |
| RS2516965790 | Health Risk | Likely pathogenic | Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy |
| RS786205159 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy |
| RS786205160 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy |
| RS786205161 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy |
| RS786205163 | Health Risk | Pathogenic | Developmental and epileptic encephalopathy, 30, Developmental and epileptic encephalopathy |