Hereditary Neuropathy - complex

Gene: TWNK

Green List (high evidence)

TWNK (twinkle mtDNA helicase)
EnsemblGeneIds (GRCh38): ENSG00000107815
EnsemblGeneIds (GRCh37): ENSG00000107815
OMIM: 606075, Gene2Phenotype
TWNK is in 19 panels

2 reviews

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Neuropathy is a feature of both the dominant and recessive disorders associated with this gene.
Created: 10 Aug 2023, 4:04 a.m. | Last Modified: 10 Aug 2023, 4:04 a.m.
Panel Version: 0.260

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286

Publications

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Rare AR condition with neuropathy identified as a feature in >3 unrelated families.

PMID: 25254289
Characterised by sensorineural hearing loss in both females and males and ovarian dysfunction in females. TUBB3 was previously called C10orf2.

PMID: 25355836
Sisters from two unrelated families with a clinical diagnosis of gonadal dysgenesis and the presence of neuropathy confirmed by EEG. All affected siblings in both families were compound heterozygotes for variants in C10orf2.

PMID: 27650058
3 siblings from a consanguineous Morrocan family with severe hearing loss, ataxia and sensory-motor polyneuropathy. Testing identified a homozygous mutation in C10orf2.

PMID: 28178980
Two Polish sisters both diagnosed with sensorineural hearing loss and ovarian dysfunction in late childhood. Both sisters were shown to have axonal sensorimotor polyneuropathy confirmed by EMG. Both sisters were compound heterozygous for [p.Asn399Ser; p.Arg601Gln] mutations in C10orf2.
Created: 10 Aug 2023, 1:48 a.m. | Last Modified: 10 Aug 2023, 1:48 a.m.
Panel Version: 0.237

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Perrault syndrome (MIM#616138)

Publications

History Filter Activity

10 Aug 2023, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: twnk has been classified as Green List (High Evidence).

10 Aug 2023, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: TWNK were changed from HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3 to Perrault syndrome (MIM#616138); Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3, MIM# 609286

10 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TWNK were set to 25254289; 25355836; 27650058; 28178980

10 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TWNK was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TWNK was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Aug 2023, Gel status: 3

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: TWNK were set to

10 Aug 2023, Gel status: 3

Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Mode of inheritance for gene: TWNK was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal

13 Jan 2020, Gel status: 3

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

Bryony Thompson (Royal Melbourne Hospital)

gene: TWNK was added gene: TWNK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: TWNK was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TWNK were set to HMSN; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 3