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| DDG2P v3.12 | CHRDL1 | Achchuthan Shanmugasundram reviewed gene: CHRDL1: Rating: GREEN; Mode of pathogenicity: ; Publications: 22284829, 26020825, 25712132; Phenotypes: MEGALOCORNEA, X-LINKED, OMIM:309300; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | CHRDL1 | Achchuthan Shanmugasundram Publications for gene: CHRDL1 were updated from 22284829 to 22284829; 26020825; 25712132 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | CHRDL1 | Rebecca Foulger reviewed gene: CHRDL1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | CHRDL1 |
Rebecca Foulger gene: CHRDL1 was added gene: CHRDL1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: CHRDL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: CHRDL1 were set to 22284829 Phenotypes for gene: CHRDL1 were set to MEGALOCORNEA, X-LINKED 309300 |
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