Gene: TWNK ×
Source: ALL
Variant Gene Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation UNIPROT Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. 22353293

2012
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation BEFREE We have previously described patients with infantile onset spinocerebellar ataxia (MIM271245) caused either by homozygous (Y508C) or compound heterozygous (Y508C and A318T) Twinkle mutations. 19304794

2009
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation UNIPROT Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 19853444

2009
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation BEFREE Infantile-onset spinocerebellar ataxia (IOSCA) is a severe neurodegenerative disorder caused by the recessive mutation in PEO1, leading to an Y508C change in the mitochondrial helicase Twinkle, in its helicase domain. 18775955

2008
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation UNIPROT Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 17722119

2007
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation UNIPROT Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 17921179

2007
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation UNIPROT This allele is expressed at a reduced level, causing the preponderance of messenger RNAs encoding Y508C polypeptides and thus leads to the IOSCA disease phenotype. 16135556

2005
dbSNP: rs80356540
rs80356540
TWNK
0.830 GeneticVariation BEFREE This allele is expressed at a reduced level, causing the preponderance of messenger RNAs encoding Y508C polypeptides and thus leads to the IOSCA disease phenotype. 16135556

2005
dbSNP: rs80356540
rs80356540
TWNK
G 0.830 CausalMutation CLINVAR

dbSNP: rs80356542
rs80356542
TWNK ; MRPL43
0.810 GeneticVariation UNIPROT Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. 22353293

2012
dbSNP: rs80356542
rs80356542
TWNK ; MRPL43
0.810 GeneticVariation BEFREE We have previously described patients with infantile onset spinocerebellar ataxia (MIM271245) caused either by homozygous (Y508C) or compound heterozygous (Y508C and A318T) Twinkle mutations. 19304794

2009
dbSNP: rs80356542
rs80356542
TWNK ; MRPL43
0.810 GeneticVariation UNIPROT Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 19853444

2009
dbSNP: rs80356542
rs80356542
TWNK ; MRPL43
0.810 GeneticVariation UNIPROT Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 17921179

2007
dbSNP: rs80356542
rs80356542
TWNK ; MRPL43
0.810 GeneticVariation UNIPROT Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 17722119

2007
dbSNP: rs80356542
rs80356542
TWNK ; MRPL43
0.810 GeneticVariation UNIPROT Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. 16135556

2005
dbSNP: rs80356542
rs80356542
TWNK ; MRPL43
A 0.810 CausalMutation CLINVAR

dbSNP: rs80356544
rs80356544
TWNK
0.800 GeneticVariation UNIPROT Identification of a novel Twinkle mutation in a family with infantile onset spinocerebellar ataxia by whole exome sequencing. 22353293

2012
dbSNP: rs80356544
rs80356544
TWNK
0.800 GeneticVariation UNIPROT Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 19853444

2009
dbSNP: rs80356544
rs80356544
TWNK
0.800 GeneticVariation UNIPROT Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 17722119

2007
dbSNP: rs80356544
rs80356544
TWNK
0.800 GeneticVariation UNIPROT Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 17921179

2007
dbSNP: rs80356544
rs80356544
TWNK
0.800 GeneticVariation UNIPROT Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. 16135556

2005
dbSNP: rs80356544
rs80356544
TWNK
T 0.800 CausalMutation CLINVAR

dbSNP: rs386834145
rs386834145
TWNK
0.710 GeneticVariation UNIPROT A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands. 22353293

2012
dbSNP: rs386834145
rs386834145
TWNK
0.710 GeneticVariation BEFREE A novel homozygous missense mutation c.1366C>G (L456V) in C10orf2 (the Twinkle gene) was identified, confirming infantile onset spinocerebellar ataxia in the probands. 22353293

2012
dbSNP: rs386834145
rs386834145
TWNK
0.710 GeneticVariation UNIPROT Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 19853444

2009