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Possible mitochondrial disorder - nuclear genes v2.5 | PDK3 | Achchuthan Shanmugasundram changed review comment from: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed and remains Red. GMS reviewers believe that there is currently insufficient evidence that variants in this gene lead to primary mitochondrial disease (disease mechanism unclear; phenotype CMT; phenotype not consistent with known PDH deficiency disorders). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v2.5 | PDK3 |
Achchuthan Shanmugasundram Tag Q1_22_rating was removed from gene: PDK3. Tag Q1_22_phenotype was removed from gene: PDK3. Tag Q1_22_expert_review was removed from gene: PDK3. |
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Possible mitochondrial disorder - nuclear genes v2.5 | PDK3 | Achchuthan Shanmugasundram reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v1.160 | PDK3 | Eleanor Williams Tag Q1_22_expert_review tag was added to gene: PDK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v1.160 | PDK3 | Eleanor Williams Tag Q1_22_rating tag was added to gene: PDK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v1.63 | PDK3 | Arina Puzriakova Publications for gene: PDK3 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v1.62 | PDK3 | Arina Puzriakova reviewed gene: PDK3: Rating: ; Mode of pathogenicity: None; Publications: 23297365, 26801680, 27388934, 28902413, 32504000, 34387338; Phenotypes: Charcot-Marie-Tooth disease, X-linked dominant, 6, OMIM:300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v1.62 | PDK3 | Arina Puzriakova Tag Q1_22_phenotype tag was added to gene: PDK3. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.5 | PDK3 | Ivone Leong reviewed gene: PDK3: Rating: RED; Mode of pathogenicity: ; Publications: ; Phenotypes: ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
Possible mitochondrial disorder - nuclear genes v0.4 | PDK3 |
Ivone Leong gene: PDK3 was added gene: PDK3 was added to Possible mitochondrial disorder - nuclear genes. Sources: Expert Review Red,NHS GMS Mode of inheritance for gene: PDK3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Phenotypes for gene: PDK3 were set to ?Charcot-Marie-Tooth disease, X-linked dominant, 6, 300905 |