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| DDG2P v3.12 | COL18A1 | Achchuthan Shanmugasundram reviewed gene: COL18A1: Rating: GREEN; Mode of pathogenicity: ; Publications: 19390655, 10942434, 27259167, 12415512, 25456301, 28602933; Phenotypes: KNOBLOCH SYNDROME TYPE I, OMIM:267750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | COL18A1 | Achchuthan Shanmugasundram Publications for gene: COL18A1 were updated from 10942434; 30007336; 19160445; 18484314; 12415512; 19160445; 28602933; 28950998 to 19390655; 18484314; 10942434; 28950998; 19160445; 27259167; 12415512; 25456301; 30007336; 28602933 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.71 | COL18A1 | Sarah Leigh Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I 267750 to Knobloch syndrome, type 1, OMIM:267750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v2.70 | COL18A1 | Sarah Leigh Publications for gene: COL18A1 were set to 10942434 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.85 | COL18A1 | Rebecca Foulger Phenotypes for gene: COL18A1 were changed from KNOBLOCH SYNDROME TYPE I 315926 to KNOBLOCH SYNDROME TYPE I 267750 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | COL18A1 | Rebecca Foulger reviewed gene: COL18A1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | COL18A1 |
Rebecca Foulger gene: COL18A1 was added gene: COL18A1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: COL18A1 were set to 10942434 Phenotypes for gene: COL18A1 were set to KNOBLOCH SYNDROME TYPE I 315926 |
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