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| Mitochondrial disease v0.671 | MTPAP | Zornitza Stark Phenotypes for gene: MTPAP were changed from Spastic ataxia 4, autosomal recessive 613672 to Spastic ataxia 4, autosomal recessive 613672; Lethal encephalopathy | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.670 | MTPAP | Zornitza Stark Tag founder tag was added to gene: MTPAP. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.670 | MTPAP |
Zornitza Stark changed review comment from: At least two families reported, functional data.; to: Three families reported, functional data. However, note that the 6 individuals with spastic ataxia all had same founder variant and were traced as distantly related (Amish community). Two additional families reported with a much more severe phenotype of lethal encephalopathy. These are likely to represent a continuum of severity associated with a mitochondrial disorder. |
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| Mitochondrial disease v0.75 | MTPAP | Zornitza Stark Marked gene: MTPAP as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.75 | MTPAP | Zornitza Stark Gene: mtpap has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.75 | MTPAP | Zornitza Stark Phenotypes for gene: MTPAP were changed from to Spastic ataxia 4, autosomal recessive 613672 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.74 | MTPAP | Zornitza Stark Publications for gene: MTPAP were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.73 | MTPAP | Zornitza Stark Mode of inheritance for gene: MTPAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.72 | MTPAP | Zornitza Stark reviewed gene: MTPAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 20970105, 25008111, 26319014, 31779033; Phenotypes: Spastic ataxia 4, autosomal recessive 613672; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disease v0.0 | MTPAP |
Zornitza Stark gene: MTPAP was added gene: MTPAP was added to Mitochondrial_AGHA_VCGS. Sources: Expert Review Green,Australian Genomics Health Alliance Mitochondrial Flagship,Victorian Clinical Genetics Services Mode of inheritance for gene: MTPAP was set to Unknown |
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