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| DDG2P v3.12 | BCKDHA | Achchuthan Shanmugasundram reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: ; Publications: 1847055, 2010537, 1990841, 11509994, 9582350, 2703538, 18378174, 14742428, 9621512, 8430702, 7883996, 14508502, 2022752; Phenotypes: MAPLE SYRUP URINE DISEASE, OMIM:248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | BCKDHA | Achchuthan Shanmugasundram Publications for gene: BCKDHA were updated from 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350 to 1847055; 1990841; 14508502; 11509994; 9582350; 2703538; 18378174; 14742428; 9621512; 8430702; 7883996; 2010537; 2022752 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | BCKDHA | Rebecca Foulger reviewed gene: BCKDHA: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | BCKDHA |
Rebecca Foulger gene: BCKDHA was added gene: BCKDHA was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: BCKDHA were set to 18378174; 7883996; 8430702; 2010537; 11509994; 2022752; 14508502; 1990841; 14742428; 1847055; 9621512; 2703538; 9582350 Phenotypes for gene: BCKDHA were set to MAPLE SYRUP URINE DISEASE 248600 |
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