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| DDG2P v3.12 | OCRL | Achchuthan Shanmugasundram reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: ; Publications: 15627218, 9632163, 9199559; Phenotypes: DENT DISEASE TYPE 2, OMIM:300555, LOWE OCULOCEREBRORENAL SYNDROME, OMIM:309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | OCRL | Achchuthan Shanmugasundram Publications for gene: OCRL were updated from 15627218 to 15627218; 9632163; 9199559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | OCRL | Rebecca Foulger reviewed gene: OCRL: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | OCRL |
Rebecca Foulger Added phenotypes DENT DISEASE TYPE 2 300555 for gene: OCRL Publications for gene OCRL were changed from 9632163 to 15627218 |
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| DDG2P v0.1 | OCRL |
Rebecca Foulger gene: OCRL was added gene: OCRL was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: OCRL were set to 9632163 Phenotypes for gene: OCRL were set to LOWE OCULOCEREBRORENAL SYNDROME 309000 |
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