| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Mitochondrial disease v0.284 | PANK2 | Bryony Thompson Marked gene: PANK2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.284 | PANK2 | Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.284 | PANK2 | Bryony Thompson Classified gene: PANK2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.284 | PANK2 | Bryony Thompson Gene: pank2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.283 | PANK2 |
Bryony Thompson gene: PANK2 was added gene: PANK2 was added to Mitochondrial disease. Sources: Literature,NHS GMS Mode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PANK2 were set to 25778941; 11479594; 12510040; 28863176 Phenotypes for gene: PANK2 were set to HARP syndrome MIM#607236; Neurodegeneration with brain iron accumulation 1 MIM#234200 Review for gene: PANK2 was set to GREEN Added comment: A mitochondrial enzyme, which phosphorylates vitamin B5 in the first reaction of the CoA biosynthetic pathway (a relevant mitochondrial cofactor). >3 cases reported. Sources: Literature, NHS GMS |
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