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DDG2P v3.12 | OXCT1 | Achchuthan Shanmugasundram reviewed gene: OXCT1: Rating: GREEN; Mode of pathogenicity: ; Publications: 10964512, 23281106, 1405472, 9671268; Phenotypes: SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY, OMIM:245050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | OXCT1 | Achchuthan Shanmugasundram Publications for gene: OXCT1 were updated from 23281106; 1405472; 9671268; 10964512 to 10964512; 23281106; 1405472; 9671268 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | OXCT1 | Rebecca Foulger reviewed gene: OXCT1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | OXCT1 |
Rebecca Foulger gene: OXCT1 was added gene: OXCT1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OXCT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: OXCT1 were set to 23281106; 1405472; 9671268; 10964512 Phenotypes for gene: OXCT1 were set to SUCCINYL-COA-3-KETOACID-COA TRANSFERASE DEFICIENCY 245050 |