Cases | Variants | Phenotype | References |
---|---|---|---|
1 | c.373G>A, p.Gly125Ser | Neuropathy and bilateral striatal necrosis | [4] |
2 | c.495G>A, p.Met165Ile | Thiamine metabolism dysfunction syndrome 4 | [5] |
3 | c.505G>A, p.Glu169Lys | Neuropathy | |
4 | c.530G>C, p.Gly177Ala | Microcephaly | |
5 | c.580T>C, p.Ser194Pro | Encephalopathy, childhood | [11] |
6 | c.869T>A, p.Leu290Gln | Neuropathy and bilateral striatal necrosis | [12] |
7 | c.910G>A, p.Glu304Lys | Neuropathy and bilateral striatal necrosis | [12] |
8 | ~ 4.5 kb incl. partial gene | Thiamine metabolism dysfunction syndrome 4 | [5] |
9 | c.576G>C, p.Gln192His | Bilateral striatal necrosis with polyneuropathy | [13] |