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| Hereditary Neuropathy - complex v0.275 | PDHA1 |
Sangavi Sivagnanasundram edited their review of gene: PDHA1: Added comment: PMID: 33661577 Young boy from China with lethal neuropathy and the presence of a de novo mutation in PDHA1 (c.1167_1170del; p.Ser390LysfsTer33) that is clinically significant for Leigh Syndrome. PDCD is known a biochemical pathway in individuals with Leigh Syndrome. PMID: 36693417 Multiple reported individual with sensory-motor polyneuropathy and a high serum lactate. One individual identified with a hemizygous mutation (p.Arg88Cys) causative of pyruvate dehydrogenase complex deficiency.; Changed rating: GREEN; Changed publications: 33661577, 36693417, 34138529; Changed phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM#312170 |
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| Hereditary Neuropathy - complex v0.205 | PDHA1 | Zornitza Stark Marked gene: PDHA1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.205 | PDHA1 | Zornitza Stark Gene: pdha1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.205 | PDHA1 | Zornitza Stark Phenotypes for gene: PDHA1 were changed from Pyruvate dehydrogenase E1-alpha deficiency; HMSN to Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.204 | PDHA1 | Zornitza Stark Publications for gene: PDHA1 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.203 | PDHA1 | Zornitza Stark reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 36693417, 33661577; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.201 | PDHA1 | Sangavi Sivagnanasundram reviewed gene: PDHA1: Rating: RED; Mode of pathogenicity: None; Publications: 34138529; Phenotypes: Primary Pyruvate Dehydrogenase Complex Deficiency MIM 312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hereditary Neuropathy - complex v0.0 | PDHA1 |
Bryony Thompson gene: PDHA1 was added gene: PDHA1 was added to Hereditary Neuropathy - complex_RMH. Sources: Royal Melbourne Hospital,Expert Review Green Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Phenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency; HMSN |
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