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| Hereditary Neuropathy - complex v0.275 | MTTP | Sangavi Sivagnanasundram edited their review of gene: MTTP: Added comment: Reported in multiple individuals with progressive neuropathy due to the deficiency of fat-soluble vitamins (vitamins E, A, D, K). Neuropathy typically presents due to a lack of vitamin E in individuals.; Changed rating: GREEN; Changed publications: 10679949, 29540175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.215 | MTTP | Zornitza Stark Marked gene: MTTP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.215 | MTTP | Zornitza Stark Gene: mttp has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.215 | MTTP | Zornitza Stark Phenotypes for gene: MTTP were changed from Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy to Abetalipoproteinemia (MIM#200100); Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.214 | MTTP | Zornitza Stark Publications for gene: MTTP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.213 | MTTP | Zornitza Stark reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: None; Publications: 33994405; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.205 | MTTP | Sangavi Sivagnanasundram reviewed gene: MTTP: Rating: RED; Mode of pathogenicity: None; Publications: 30358967; Phenotypes: Abetalipoproteinemia (MIM#200100); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.135 | MTTP | Zornitza Stark Tag treatable tag was added to gene: MTTP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | MTTP |
Bryony Thompson gene: MTTP was added gene: MTTP was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: MTTP were set to Young onset; Abetalipoproteinaemia; hypocholesterloaemia leading to malabsorption of fat-soluble vitamins (vitamin E), acanthocytes, retinitis pigmentosa, progressive sensory axonal neuropathy |
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