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| DDG2P v3.12 | PDHA1 | Achchuthan Shanmugasundram reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: ; Publications: 8199595, 1909778, 1909401, 3137520, 10486093, 1293379, 12379317, 9686362, 7573035, 1907799, 2378353, 2537010, 8771169, 8032855; Phenotypes: INTELLECTUAL DISABILTIY, OMIM:312170, PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES, OMIM:312170; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDHA1 | Achchuthan Shanmugasundram Publications for gene: PDHA1 were updated from 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169 to 8199595; 1909778; 1909401; 3137520; 10486093; 1293379; 12379317; 9686362; 7573035; 1907799; 2378353; 2537010; 8771169; 8032855 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.46 | PDHA1 | Rebecca Foulger Added comment: Comment on mode of inheritance: IN DDG2P, the MOI is listed as hemizygous for INTELLECTUAL DISABILTIY (note typo in DDG2P disease name); x-linked dominant for PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES; hemizygous for X-LINKED LEIGH SYNDROME. All disorders have a confirmed Disease confidence rating. Therefore have selected an X-linked dominant MOI in PanelApp so all cases can be caught. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.46 | PDHA1 | Rebecca Foulger Mode of inheritance for gene: PDHA1 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDHA1 | Rebecca Foulger reviewed gene: PDHA1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDHA1 | Rebecca Foulger Added phenotypes INTELLECTUAL DISABILTIY 312170 for gene: PDHA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDHA1 | Rebecca Foulger Added phenotypes PYRUVATE DEHYDROGENASE E1-ALPHA DEFICIENCY IN FEMALES 312170 for gene: PDHA1 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDHA1 |
Rebecca Foulger gene: PDHA1 was added gene: PDHA1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) Publications for gene: PDHA1 were set to 1909778; 8199595; 8032855; 3137520; 1907799; 2378353; 10486093; 12379317; 7573035; 1909401; 1293379; 2537010; 9686362; 8771169 Phenotypes for gene: PDHA1 were set to X-LINKED LEIGH SYNDROME 312170 |
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