| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia - paediatric v0.322 | TBCE | Zornitza Stark Marked gene: TBCE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.322 | TBCE | Zornitza Stark Gene: tbce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.320 | TBCE | Chirag Patel Classified gene: TBCE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.320 | TBCE | Chirag Patel Gene: tbce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia - paediatric v0.319 | TBCE |
Chirag Patel gene: TBCE was added gene: TBCE was added to Ataxia - paediatric. Sources: Literature Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to PubMed: 27666369 Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy, OMIM #617207 Review for gene: TBCE was set to GREEN Added comment: 5 patients from 3 unrelated Italian families with progressive encephalopathy with amyotrophy and optic atrophy (PEAMO), and biallelic variants in TCBE gene (WES or Sanger). PEAMO is a severe autosomal recessive neurodegenerative disorder characterized by delayed development with hypotonia apparent in infancy and subsequent motor regression. Most affected individuals are unable to or lose the ability to sit and show distal amyotrophy and weakness of all 4 limbs. The patients are cognitively impaired and unable to speak or have severe dysarthria. Additional features include optic atrophy, thin corpus callosum, and cerebellar atrophy. Sources: Literature |
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