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| DDG2P v3.12 | PDHX | Achchuthan Shanmugasundram reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: ; Publications: 21937992, 17152059, 16566017, 11935326, 9399911, 8584393, 12557299, 8229524, 9467010; Phenotypes: LACTICACIDEMIA DUE TO PDX1 DEFICIENCY, OMIM:245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | PDHX | Achchuthan Shanmugasundram Publications for gene: PDHX were updated from 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299 to 21937992; 17152059; 16566017; 9399911; 11935326; 8584393; 12557299; 8229524; 9467010 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | PDHX | Rebecca Foulger reviewed gene: PDHX: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | PDHX |
Rebecca Foulger gene: PDHX was added gene: PDHX was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PDHX was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PDHX were set to 9399911; 9467010; 16566017; 8229524; 8584393; 11935326; 17152059; 21937992; 12557299 Phenotypes for gene: PDHX were set to LACTICACIDEMIA DUE TO PDX1 DEFICIENCY 245349 |
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