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| DDG2P v3.12 | ERCC2 | Achchuthan Shanmugasundram reviewed gene: ERCC2: Rating: GREEN; Mode of pathogenicity: ; Publications: 9012405, 11709541, 15220921, 9101292, 7849702, 7920640, 9195225, 8571952, 11443545, 7585650, 9758621; Phenotypes: CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2, OMIM:610756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | ERCC2 | Achchuthan Shanmugasundram Publications for gene: ERCC2 were updated from 9758621; 15220921; 7920640; 8571952; 9195225; 9012405 to 9012405; 11709541; 15220921; 9101292; 7849702; 7920640; 9195225; 8571952; 11443545; 7585650; 9758621 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | ERCC2 | Rebecca Foulger reviewed gene: ERCC2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | ERCC2 |
Rebecca Foulger Added phenotypes TRICHOTHIODYSTROPHY PHOTOSENSITIVE 601675 for gene: ERCC2 Publications for gene ERCC2 were changed from 9101292; 7849702; 7585650; 11443545; 11709541 to 9758621; 15220921; 7920640; 8571952; 9195225; 9012405 |
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| DDG2P v0.1 | ERCC2 |
Rebecca Foulger Added phenotypes XERODERMA PIGMENTOSUM COMPLEMENTATION GROUP D 278730 for gene: ERCC2 Publications for gene ERCC2 were changed from 11443545 to 9101292; 7849702; 7585650; 11443545; 11709541 |
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| DDG2P v0.1 | ERCC2 |
Rebecca Foulger gene: ERCC2 was added gene: ERCC2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC2 were set to 11443545 Phenotypes for gene: ERCC2 were set to CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 2 610756 |
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