| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Ataxia v2.229 | TPK1 | Bryony Thompson Marked gene: TPK1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.229 | TPK1 | Bryony Thompson Gene: tpk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.229 | TPK1 | Bryony Thompson Classified gene: TPK1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.229 | TPK1 | Bryony Thompson Gene: tpk1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Ataxia v2.228 | TPK1 |
Bryony Thompson gene: TPK1 was added gene: TPK1 was added to Ataxia. Sources: Literature Mode of inheritance for gene: TPK1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TPK1 were set to 40186230; 39140381; 38501011; 37622082; 36175994; 32361878 Phenotypes for gene: TPK1 were set to childhood encephalopathy due to thiamine pyrophosphokinase deficiency, MONDO:0013761 Review for gene: TPK1 was set to GREEN Added comment: The disorder is treatable with thiamine supplementation and presents with ataxia as a prominent sign. Sources: Literature |
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