SCYL1 Chromosome 11
SCY1 like pseudokinase 1
Upload your DNA to see your personal genotypes for variants in SCYL1.
What This Gene Does
This gene encodes a transcriptional regulator belonging to the SCY1-like family of kinase-like proteins. The protein has a divergent N-terminal kinase domain that is thought to be catalytically inactive, and can bind specific DNA sequences through its C-terminal domain. It activates transcription of the telomerase reverse transcriptase and DNA polymerase beta genes. The protein has been localized to the nucleus, and also to the cytoplasm and centrosomes during mitosis. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
Gene Info
Gene Group
"SCY1 like pseudokinases|Armadillo like helical domain containing"
Locus Type
gene with protein product
Location
11q13.1
Ensembl
ENSG00000142186
Associated Conditions (3)
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Inborn genetic diseases
SCYL1-related disorder
Key Variants
RS141670485
Conflicting classifications of pathogenicity
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Health Risk
RS143168314
Conflicting classifications of pathogenicity
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Inborn genetic diseases, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Health Risk
RS201043872
Conflicting classifications of pathogenicity
SCYL1-related disorder, SCYL1-related disorder
Health Risk
RS755131489
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1481969607
Likely pathogenic
Health Risk
RS1554969894
Likely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Health Risk
RS2496024369
Likely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Health Risk
RS765686702
Likely pathogenic
Health Risk
RS864309666
Likely pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Health Risk
RS1282873235
Pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1320473430
Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Health Risk
RS1554967681
Pathogenic
Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome
Health Risk
All Variants (26)
| RSID | Category | Clinical Significance | Conditions |
|---|---|---|---|
| RS141670485 | Health Risk | Conflicting classifications of pathogenicity | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS143168314 | Health Risk | Conflicting classifications of pathogenicity | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Inborn genetic diseases, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS201043872 | Health Risk | Conflicting classifications of pathogenicity | SCYL1-related disorder, SCYL1-related disorder |
| RS755131489 | Health Risk | Conflicting classifications of pathogenicity | Inborn genetic diseases, Inborn genetic diseases |
| RS1481969607 | Health Risk | Likely pathogenic | — |
| RS1554969894 | Health Risk | Likely pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS2496024369 | Health Risk | Likely pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS765686702 | Health Risk | Likely pathogenic | — |
| RS864309666 | Health Risk | Likely pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS1282873235 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS1320473430 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS1554967681 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS1554967761 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS1554969925 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS1554970375 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS1590740858 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS1855366408 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS201581270 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS2495967037 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS759830598 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS773812714 | Health Risk | Pathogenic | Inborn genetic diseases, Inborn genetic diseases |
| RS864309664 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS864309665 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS864309667 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS942522644 | Health Risk | Pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome |
| RS535912271 | Health Risk | Pathogenic/Likely pathogenic | Acute infantile liver failure-cerebellar ataxia-peripheral sensory motor neuropathy syndrome, SCYL1-related disorder, Inborn genetic diseases |