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| Regression v0.126 | TBCE | Zornitza Stark Marked gene: TBCE as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.126 | TBCE | Zornitza Stark Gene: tbce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.126 | TBCE | Zornitza Stark Classified gene: TBCE as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.126 | TBCE | Zornitza Stark Gene: tbce has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Regression v0.125 | TBCE |
Elena Savva gene: TBCE was added gene: TBCE was added to Regression. Sources: Literature Mode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TBCE were set to PMID: 27666369 Phenotypes for gene: TBCE were set to Encephalopathy, progressive, with amyotrophy and optic atrophy 617207 Review for gene: TBCE was set to GREEN Added comment: PMID: 27666369 - 6 patients (4 families) with early-onset, progressive neurodegeneration encephalopathy with spinal muscular atrophy, supported by functional studies. Patients present within the first 18 months of life, phenotypes include hypotonia (3/6), dev delay (6/6), signs of regression (6/6, distal amyotrophy, ataxia, spasticity) Missense variant p.I155N is recurring, very rare in gnomAD. Sources: Literature |
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