Mitochondrial disorders
Gene: TWNKEnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 18 panels
4 reviews
Carl Fratter (Oxford University Hospitals NHS Trust)
Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal
Variants in this GENE are reported as part of current diagnostic practice
Louise Daugherty (Genomics England Curator)
added new-gene-name tag, HGNC Approved Gene Symbol is TWNKCreated: 22 May 2017, 11:38 a.m.
Shamima Rahman (UCL Institute of Child Health)
Ellen McDonagh (Genomics England Curator)
This gene was submitted as "PEO1" by two experts, which likely corresponds to this HGNC-approved symbol. Illumina source has this gene as both dominant (for Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions) and recessive (for Mitochondrial Membrane Protein-Associated Neurodegeneration and Mitochondrial DNA Depletion Syndrome).Created: 1 Jul 2015, 2:36 p.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Victorian Clinical Genetics Services
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Expert
- Phenotypes
-
- Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245
- Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286
- Perrault syndrome 5, OMIM:616138
- OMIM
- 606075
- Clinvar variants
- Variants in TWNK
- Penetrance
- Complete
- Panels with this gene
-
- Mitochondrial liver disease, including transient infantile liver failure
- Mitochondrial DNA maintenance disorder
- Childhood onset dystonia, chorea or related movement disorder
- Primary ovarian insufficiency
- Undiagnosed metabolic disorders
- Adult onset neurodegenerative disorder
- Inherited white matter disorders
- Paediatric pseudo-obstruction syndrome
- Ataxia and cerebellar anomalies - narrow panel
- Mitochondrial disorders
- Parkinson Disease and Complex Parkinsonism
- Likely inborn error of metabolism
- Hereditary ataxia with onset in adulthood
- Possible mitochondrial disorder - nuclear genes
- Hereditary neuropathy or pain disorder
- Hereditary ataxia
- White matter disorders and cerebral calcification - narrow panel
- Hereditary neuropathy
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TWNK were changed from Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), OMIM:271245; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, OMIM:609286; Perrault syndrome 5, OMIM:616138
Set Phenotypes
Rebecca Foulger (Genomics England curator)Phenotypes for gene: TWNK were changed from Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic) to Disorders of mitochondrial DNA maintenance and integrity; Progressive external ophthalmoplegia, autosomal dominant, 3, 609286; Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245; Mitochondrial DNA Depletion Syndrome; Progressive External Ophthalmoplegia with Mitochondrial DNA Deletions (monoallelic); Mitochondrial Membrane Protein-Associated Neurodegeneration (biallelic); Mitochondrial DNA Depletion Syndrome (biallelic)
Added New Source
Sarah Leigh (Genomics England Curator)Victorian Clinical Genetics Services was added to TWNK. Panel: Mitochondrial disorders
Changed Gene Name
GEL ()C10orf2 was changed to TWNK
Removed Tag
GEL ()new-gene-name was removed from C10orf2. Panel: Mitochondrial disorders
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene C10orf2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene C10orf2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene C10orf2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene C10orf2 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)C10orf2 was added to All recognised syndromes and those with suggestive featurespanel. Sources: Expert,Expert list,Radboud University Medical Center, Nijmegen,Illumina TruGenome Clinical Sequencing Services,UKGTN