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DDG2P v3.12 | ERCC6L2 | Achchuthan Shanmugasundram reviewed gene: ERCC6L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 24507776; Phenotypes: BONE MARROW FAILURE SYNDROME 2, OMIM:615715; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.12 | ERCC6 | Achchuthan Shanmugasundram reviewed gene: ERCC6: Rating: GREEN; Mode of pathogenicity: ; Publications: 20456449, 9443879, 7264357, 10739753, 18628313, 18446857, 10196384; Phenotypes: UV-SENSITIVE SYNDROME, OMIM:609413; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | ERCC6 | Achchuthan Shanmugasundram Publications for gene: ERCC6 were updated from 7264357 to 20456449; 9443879; 7264357; 10739753; 18628313; 18446857; 10196384 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | ERCC6L2 | Rebecca Foulger reviewed gene: ERCC6L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | ERCC6 | Rebecca Foulger reviewed gene: ERCC6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | ERCC6L2 |
Rebecca Foulger gene: ERCC6L2 was added gene: ERCC6L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6L2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERCC6L2 were set to 24507776 Phenotypes for gene: ERCC6L2 were set to BONE MARROW FAILURE SYNDROME 2 615715 |
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DDG2P v0.1 | ERCC6 |
Rebecca Foulger Added phenotypes UV-SENSITIVE SYNDROME 609413 for gene: ERCC6 Publications for gene ERCC6 were changed from 18628313; 10739753; 20456449 to 7264357 |
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DDG2P v0.1 | ERCC6 |
Rebecca Foulger Added phenotypes CEREBRO-OCULO-FACIO-SKELETAL SYNDROME TYPE 1 214150 for gene: ERCC6 Publications for gene ERCC6 were changed from 10196384; 9443879; 18446857 to 18628313; 10739753; 20456449 |
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DDG2P v0.1 | ERCC6 |
Rebecca Foulger Added phenotypes COCKAYNE SYNDROME TYPE B 133540 for gene: ERCC6 Publications for gene ERCC6 were changed from to 10196384; 9443879; 18446857 |
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DDG2P v0.1 | ERCC6 |
Rebecca Foulger gene: ERCC6 was added gene: ERCC6 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: ERCC6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: ERCC6 were set to DE SANCTIS-CACCHIONE SYNDROME 278800 |