Rhabdomyolysis and Metabolic Myopathy
Gene: TWNK
PMID: 32234020: Fig 1 shows variant distribution for all condition: - Missense within the linker region have only been reported for PEOA (AD). No other patterns for AD vs AR missense. - Missense in N-terminal motifs generally cause PEOA - PTCs reported for AR conditions - Same variant has been reported for both AR Perrault and mito depletion conditions (p.N399S). PMID: 18593709: Missense transfected into Schneider cells could form hexamers, had no effect on protein expression, had both loss and gain of mtDNA copy numbers and loss of ATPase activity when overexpressed with endogenous protein. No evidence of GOF mechanism found.Created: 29 Jul 2020, 12:08 a.m. | Last Modified: 29 Jul 2020, 12:08 a.m.
Panel Version: 0.449
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Publications
PMID: 32234020: Fig 1 shows variant distribution for all condition:
- Missense within the linker region have only been reported for PEOA (AD). No other patterns for AD vs AR missense.
- Missense in N-terminal motifs generally cause PEOA
- PTCs reported for AR conditions
- Same variant has been reported for both AR Perrault and mito depletion conditions (p.N399S).
PMID: 18593709: Missense transfected into Schneider cells could form hexamers, had no effect on protein expression, had both loss and gain of mtDNA copy numbers and loss of ATPase activity when overexpressed with endogenous protein
No evidence of GOF mechanism foundCreated: 28 Jul 2020, 11:51 p.m. | Last Modified: 28 Jul 2020, 11:51 p.m.
Panel Version: 0.3551
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286
Publications
Mode of pathogenicity
Other
Exercise intolerance reported as a presenting feature of the condition in at least 5 cases.
Sources: Expert listCreated: 29 May 2020, 12:48 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286
Publications
Gene: twnk has been classified as Green List (High Evidence).
Gene: twnk has been classified as Green List (High Evidence).
gene: TWNK was added gene: TWNK was added to Rhabdomyolysis RMH. Sources: Expert list Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: TWNK were set to 20880070 Phenotypes for gene: TWNK were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 MIM#609286 Review for gene: TWNK was set to GREEN