| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.219 | TECPR2 | Bryony Thompson Marked gene: TECPR2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.219 | TECPR2 | Bryony Thompson Gene: tecpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.219 | TECPR2 | Bryony Thompson Classified gene: TECPR2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.219 | TECPR2 | Bryony Thompson Gene: tecpr2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.218 | TECPR2 |
Bryony Thompson gene: TECPR2 was added gene: TECPR2 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TECPR2 were set to 35130874; 34994087; 33847017 Phenotypes for gene: TECPR2 were set to hereditary spastic paraplegia 49, MONDO:0014016 Review for gene: TECPR2 was set to GREEN Added comment: Biallelic loss-of-function TECPR2 variants present with hereditary spastic paraplegia. Core features include progressive ataxia, hypotonia, hyporeflexia, autonomic dysregulation and respiratory failure. Sources: Literature |
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