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| DDG2P v3.12 | SCO2 | Achchuthan Shanmugasundram reviewed gene: SCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 10749987, 14994243, 10545952, 18924171; Phenotypes: FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY, OMIM:604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | ESCO2 | Achchuthan Shanmugasundram reviewed gene: ESCO2: Rating: GREEN; Mode of pathogenicity: ; Publications: 3740099, 15821733, 495649; Phenotypes: ROBERTS SYNDROME, OMIM:268300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SCO2 | Achchuthan Shanmugasundram Publications for gene: SCO2 were updated from 10545952; 10749987; 18924171; 14994243 to 10749987; 14994243; 10545952; 18924171 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ESCO2 | Achchuthan Shanmugasundram Publications for gene: ESCO2 were updated from 15821733; 495649 to 3740099; 15821733; 495649 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | SCO2 | Rebecca Foulger reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ESCO2 | Rebecca Foulger reviewed gene: ESCO2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | SCO2 |
Rebecca Foulger gene: SCO2 was added gene: SCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: SCO2 were set to 10545952; 10749987; 18924171; 14994243 Phenotypes for gene: SCO2 were set to FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY 604377 |
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| DDG2P v0.1 | ESCO2 |
Rebecca Foulger Added phenotypes ROBERTS SYNDROME 268300 for gene: ESCO2 Publications for gene ESCO2 were changed from 3740099 to 15821733; 495649 |
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| DDG2P v0.1 | ESCO2 |
Rebecca Foulger gene: ESCO2 was added gene: ESCO2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ESCO2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESCO2 were set to 3740099 Phenotypes for gene: ESCO2 were set to SC PHOCOMELIA SYNDROME 269000 |
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