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Possible mitochondrial disorder - nuclear genes

Gene: TWNK

Green List (high evidence)

TWNK (twinkle mtDNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 18 panels

5 reviews

Ivone Leong (Genomics England Curator)

Green List (high evidence)

Initial gene list and info collated by Carl Fratter (Oxford University Hospitals NHS Trust) January 2019 on behalf of the GMS Mitochondrial specialist test group.
Created: 4 Feb 2019, 1:36 p.m.

Mode of inheritance
BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal

Phenotypes
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286

Carl Fratter (Oxford University Hospitals NHS Trust)

Green List (high evidence)

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 TWNK
Created: 22 May 2017, 11:38 a.m.

Shamima Rahman (UCL Institute of Child Health)

Green List (high evidence)

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.

History Filter Activity

4 Feb 2019, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Ivone Leong (Genomics England Curator)

gene: TWNK was added gene: TWNK was added to Possible mitochondrial disorder - nuclear genes. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, 609286