| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Hereditary Neuropathy - complex v0.265 | XK | Zornitza Stark Marked gene: XK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.265 | XK | Zornitza Stark Gene: xk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.265 | XK | Zornitza Stark Phenotypes for gene: XK were changed from McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy to McLeod syndrome with or without chronic granulomatous disease (MIM#300842) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.264 | XK | Zornitza Stark Publications for gene: XK were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.237 | XK | Sangavi Sivagnanasundram reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: None; Publications: 11761473; Phenotypes: McLeod syndrome with or without chronic granulomatous disease (MIM#300842); Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.107 | PDXK | Bryony Thompson Classified gene: PDXK as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.107 | PDXK | Bryony Thompson Gene: pdxk has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.106 | PDXK | Bryony Thompson Publications for gene: PDXK were set to 31187503 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.60 | PDXK | Zornitza Stark Marked gene: PDXK as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.60 | PDXK | Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.60 | PDXK | Zornitza Stark Classified gene: PDXK as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.60 | PDXK | Zornitza Stark Gene: pdxk has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.59 | PDXK |
Zornitza Stark gene: PDXK was added gene: PDXK was added to Hereditary Neuropathy - complex. Sources: Literature Mode of inheritance for gene: PDXK was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDXK were set to 31187503 Phenotypes for gene: PDXK were set to Axonal polyneuropathy; optic atrophy Review for gene: PDXK was set to AMBER Added comment: 5 individuals from two unrelated families, cell-based functional assays. Response to pyridoxal 5'-phosphate supplementation. Sources: Literature |
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| Hereditary Neuropathy - complex v0.0 | XK |
Bryony Thompson gene: XK was added gene: XK was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: XK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: XK were set to McLeod syndrome with or without chronic granulomatous disease, 300842; acanthocytes and Huntington-like syndrome, also epilepsy, cardiomyopathy, axonal motor neuropathy |
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