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| Prepair 1000+ v1.1334 | TWNK | Zornitza Stark Marked gene: TWNK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1334 | TWNK | Zornitza Stark Gene: twnk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1334 | TWNK | Zornitza Stark Phenotypes for gene: TWNK were changed from Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245; Perrault syndrome 5, MIM#616138 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1333 | TWNK | Zornitza Stark Publications for gene: TWNK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.1257 | TWNK |
Crystle Lee changed review comment from: Gene also know as C10ORF2. MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM) PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations Allelic conditions, Perrault syndrome is less severe than MTDPS7.; to: Gene also know as C10ORF2. MTDPS7 is characterized by primarily by hypotonia, ataxia, ophthalmoplegia, hearing loss, seizures, and sensory axonal neuropathy (OMIM) PMID: 35035228: Reported an 11yo girl with delayed gonadal development, sensorineural hearing loss, and neurologic manifestations Allelic conditions, Perrault syndrome is less severe than MTDPS7. |
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| Prepair 1000+ v1.1257 | TWNK | Crystle Lee reviewed gene: TWNK: Rating: GREEN; Mode of pathogenicity: None; Publications: 31852434, 35035228; Phenotypes: Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM#271245, Perrault syndrome 5, MIM#616138; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v1.3 | TWNK | Seb Lunke Added phenotypes Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) for gene: TWNK | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Prepair 1000+ v0.0 | TWNK |
Zornitza Stark gene: TWNK was added gene: TWNK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green Mode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3) |
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