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| Deafness_IsolatedAndComplex v1.319 | TWNK |
Sangavi Sivagnanasundram changed review comment from: Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173 "This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis."; to: Hearing loss has been reported in multiple affected individuals. Classified as DEFINITIVE by ClinGen Hearing Loss VCEP on 21/01/2026 - https://search.clinicalgenome.org/CCID:009173 "This condition is characterized by childhood-onset, progressive, and moderate-to-profound hearing loss, as well as ocular anomalies (such as nystagmus and ophthalmoplegia); ataxia; hypotonia; neuropathy; seizures; brain structural anomalies (including cerebellar atrophy); demyelination; and, in females, amenorrhea/gonadal dysgenesis." |
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| Deafness_IsolatedAndComplex v1.319 | Sangavi Sivagnanasundram Copied gene TWNK from panel Mendeliome | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Deafness_IsolatedAndComplex v1.319 | TWNK |
Sangavi Sivagnanasundram gene: TWNK was added gene: TWNK was added to Deafness_IsolatedAndComplex. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: TWNK were set to 32234020; 18593709 Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type) 271245; Perrault syndrome 5 616138; Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 609286 Mode of pathogenicity for gene: TWNK was set to Other |
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