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| Mitochondrial disorders v1.456 | TRAK1 | Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56).; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red it is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.456 | TRAK1 | Sarah Leigh changed review comment from: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases.; to: Associated with phenotype in OMIM and not in Gen2Phen. At least 4 variants identified in unrelated cases. Rated as Red is not likely to suggest a non-specific mitochondrial disorder (comments from Anna de Burca, Genomics England Clinical Fellow) and is covered by the Genetic epilepsy syndromes panel if the patient presents with epilepsy (code 402, Version 1.56). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.423 | TRAK1 | Sarah Leigh reviewed gene: TRAK1: Rating: RED; Mode of pathogenicity: ; Publications: 29903433, 29846532; Phenotypes: Epileptic encephalopathy, early infantile, 68 618201; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Mitochondrial disorders v1.422 | TRAK1 |
Sarah Leigh gene: TRAK1 was added gene: TRAK1 was added to Mitochondrial disorders. Sources: Expert list Mode of inheritance for gene: TRAK1 was set to |
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