TWNK, twinkle mtDNA helicase, 56652

N. diseases: 245; N. variants: 41
Source: ALL
Variant Gene Disease Risk Allele Score vda Association Type Original DB Sentence supporting the association PMID PMID Year
dbSNP: rs80356540
rs80356540
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		0.830 GeneticVariation UNIPROT Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 19853444 2009
dbSNP: rs80356540
rs80356540
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		0.830 GeneticVariation UNIPROT Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 17722119 2007
dbSNP: rs80356540
rs80356540
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		0.830 GeneticVariation UNIPROT Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 17921179 2007
dbSNP: rs80356540
rs80356540
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		G 0.830 CausalMutation CLINVAR
dbSNP: rs80356542
rs80356542
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		0.810 GeneticVariation UNIPROT Novel Twinkle gene mutation in autosomal dominant progressive external ophthalmoplegia and multisystem failure. 19853444 2009
dbSNP: rs80356542
rs80356542
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		0.810 GeneticVariation UNIPROT Recessive Twinkle mutations in early onset encephalopathy with mtDNA depletion. 17921179 2007
dbSNP: rs80356542
rs80356542
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		0.810 GeneticVariation UNIPROT Twinkle helicase (PEO1) gene mutation causes mitochondrial DNA depletion. 17722119 2007
dbSNP: rs80356542
rs80356542
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		0.810 GeneticVariation UNIPROT Infantile onset spinocerebellar ataxia is caused by recessive mutations in mitochondrial proteins Twinkle and Twinky. 16135556 2005
dbSNP: rs80356542
rs80356542
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		A 0.810 CausalMutation CLINVAR
dbSNP: rs672601360
rs672601360
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		0.800 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
dbSNP: rs672601361
rs672601361
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C4015307
Disease:
PERRAULT SYNDROME 5 		0.800 GeneticVariation UNIPROT Mutations in Twinkle primase-helicase cause Perrault syndrome with neurologic features. 25355836 2014
dbSNP: rs80356544
rs80356544
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1849096
Disease:
Infantile onset spinocerebellar ataxia 		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: rs111033572
rs111033572
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.800 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs111033573
rs111033573
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.800 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs111033574
rs111033574
Entrez Id: 56652
Gene Symbol: TWNK
TWNK
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.800 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs111033575
rs111033575
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.800 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs111033576
rs111033576
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.800 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011
dbSNP: rs111033577
rs111033577
Entrez Id: 56652;84545
Gene Symbol: TWNK;MRPL43
TWNK;MRPL43
CUI: C1836439
Disease:
Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions, Autosomal Dominant, 3 		0.800 GeneticVariation UNIPROT TWINKLE gene mutation: report of a French family with an autosomal dominant progressive external ophthalmoplegia and literature review. 20880070 2011