TOE1 Chromosome 1

Target of EGR1, exonuclease
28 variants 28 Health Risk

Upload your DNA to see your personal genotypes for variants in TOE1.

What This Gene Does
Enables poly(A)-specific ribonuclease activity and snRNA binding activity. Involved in snRNA 3'-end processing. Located in Cajal body and cytoplasm. Implicated in pontocerebellar hypoplasia type 7. [provided by Alliance of Genome Resources, Jul 2025]
Gene Info
Gene Group
"Zinc fingers CCCH-type|PARN exonuclease family"
Locus Type
gene with protein product
Location
1p34.1
Ensembl
ENSG00000132773
Associated Conditions (4)
Inborn genetic diseases
TOE1-related disorder
Pontocerebellar hypoplasia type 7
See cases
Key Variants
RS144829269
Conflicting classifications of pathogenicity
Inborn genetic diseases, TOE1-related disorder, Inborn genetic diseases
Health Risk
RS148067486
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 7, Inborn genetic diseases, Pontocerebellar hypoplasia type 7
Health Risk
RS372284117
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS771979228
Conflicting classifications of pathogenicity
Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
Health Risk
RS1557531984
Likely pathogenic
Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
Health Risk
RS1570621555
Likely pathogenic
Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
Health Risk
RS1570626350
Likely pathogenic
Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
Health Risk
RS1647053042
Likely pathogenic
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS2149260739
Likely pathogenic
Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
Health Risk
RS2524802526
Likely pathogenic
TOE1-related disorder, TOE1-related disorder
Health Risk
RS267598623
Likely pathogenic
Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
Health Risk
RS750266350
Likely pathogenic
Pontocerebellar hypoplasia type 7, TOE1-related disorder, Pontocerebellar hypoplasia type 7
Health Risk
All Variants (28)
RSID Category Clinical Significance Conditions
RS144829269 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, TOE1-related disorder, Inborn genetic diseases
RS148067486 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 7, Inborn genetic diseases, Pontocerebellar hypoplasia type 7
RS372284117 Health Risk Conflicting classifications of pathogenicity Inborn genetic diseases, Inborn genetic diseases
RS771979228 Health Risk Conflicting classifications of pathogenicity Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1557531984 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1570621555 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1570626350 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1647053042 Health Risk Likely pathogenic Inborn genetic diseases, Inborn genetic diseases
RS2149260739 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS2524802526 Health Risk Likely pathogenic TOE1-related disorder, TOE1-related disorder
RS267598623 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS750266350 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, TOE1-related disorder, Pontocerebellar hypoplasia type 7
RS752569685 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS758153898 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS761932920 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS773776995 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS774056037 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS777525101 Health Risk Likely pathogenic See cases, See cases
RS778263701 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS779707076 Health Risk Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1393167436 Health Risk Pathogenic —
RS1465984343 Health Risk Pathogenic —
RS767479473 Health Risk Pathogenic —
RS771704204 Health Risk Pathogenic —
RS777030573 Health Risk Pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS780563835 Health Risk Pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS1570621473 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
RS371848318 Health Risk Pathogenic/Likely pathogenic Pontocerebellar hypoplasia type 7, Pontocerebellar hypoplasia type 7
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