Hereditary Neuropathy - complex

Gene: TWNK

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

• 35011763

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

• 25254289
• 25355836
• 27650058
• 28178980