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| Possible mitochondrial disorder - nuclear genes v0.203 | PARS2 | Eleanor Williams Added comment: Comment on phenotypes: Phenotype added to OMIM in May 2019 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.203 | PARS2 | Eleanor Williams Phenotypes for gene: PARS2 were changed from Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder to Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder; Epileptic encephalopathy, early infantile, 75, 61843 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.69 | PARS2 | Ellen McDonagh Classified gene: PARS2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.69 | PARS2 | Ellen McDonagh Added comment: Comment on list classification: More than 3 unrelated families reported. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.69 | PARS2 | Ellen McDonagh Gene: pars2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.5 | PARS2 | Ivone Leong reviewed gene: PARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: 27290639, 28077841, 29915213, 25629079; Phenotypes: Infantile-onset neurodegenerative disorder, Infantile-onset encephalopathy, Alpers syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Possible mitochondrial disorder - nuclear genes v0.3 | PARS2 |
Ivone Leong gene: PARS2 was added gene: PARS2 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: PARS2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PARS2 were set to 28077841; 27290639; 25629079; 29915213 Phenotypes for gene: PARS2 were set to Infantile-onset encephalopathy; Alpers syndrome; Infantile-onset neurodegenerative disorder |
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