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Undiagnosed metabolic disorders

Gene: TWNK

Green List (high evidence)

TWNK (twinkle mtDNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 16 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Added new-gene-name tag, HGNC Approved Gene Symbol is TWNK
Created: 22 May 2017, 11:40 a.m.

Sarah Leigh (Genomics England Curator)

New gene name for C10ORF2 is TWNK
Created: 31 Oct 2016, 12:43 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))

Publications

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only))
  • 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)
OMIM
606075
Clinvar variants
Variants in TWNK
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

24 Jan 2019, Gel status: 4

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: TWNK were changed from Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)) ; 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 Required for mtDNA maintenance (Mitochondrial respiratory chain disorders (caused by nuclear variants only)); 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)

5 Nov 2017, Gel status: 4

Changed Gene Name

GEL ()

C10orf2 was changed to TWNK

5 Nov 2017, Gel status: 4

Removed Tag

GEL ()

new-gene-name was removed from C10orf2. Panel: Undiagnosed metabolic disorders

27 Feb 2017, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Construction of “Undiagnosed Metabolic Disorders” (UDM) panel • The 614 genes from the neurometabolic gene panel (PMID: 27604308) added • Green genes downloaded from V1 metabolic panels (Cerebral folate deficiency, Congenital disorders of glycosylation, Hyperammonaemia, Ketotic hypoglycaemia, Mitochondrial disorders, Mucopolysaccharideosis, Gaucher, Fabry, Peroxisomal disorders), sources replaced with "Expert review green", then loaded as a review onto UDM panel, resulting in 367 green genes and 333 red (therefore 86 new green genes included from the additional metabolic panels that weren't previously on the UDM panel) • Downloaded green genes from all panels. Removed genes from none V1 panels. Removed genes from the metabolic panels mentioned above. Compared the remaining genes with the red genes from UDM panel. Loaded as an "Expert review Amber" review to the overlapping genes, (the panel name where the genes came from was used as the phenotype) • Used variant information from PMID 27604308 to review the genes on this panel • Reviewed genes on UDM panel with genes from Emory "Inherited Metabolic Disorders: Sequencing Panel" and UKGTN “Inborn Errors of Metabolism 226 panel”, changing status where appropriate, added 14 UKGTN genes that had not be listed before • Review 10 red genes that had not previously been reviewed, 4/10 were reclassified as green • Review the remaining 145 red genes that had not previously been reviewed (shared between reviewers EM, RF, LD, AT, HB, ON & SL), resulting in 60 green, 11 amber, 70 red, 4 I don’t know reviews) • Reviewed genes from PMID: 24816252 as a publication to genes found in the Inborn error or metabolism Genes metabolomics GWAS paper (figure 5). 2 new genes added

20 Dec 2016, Gel status: 4

Added New Source

Sarah Leigh (Genomics England Curator)

C10orf2 was added to Undiagnosed metabolic disorderspanel. Source: Expert Review Green

31 Oct 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

C10orf2 was added to Undiagnosed metabolic disorderspanel. Sources: Literature

31 Oct 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

C10orf2 was created by sleigh