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| DDG2P v3.12 | MCOLN1 | Achchuthan Shanmugasundram reviewed gene: MCOLN1: Rating: GREEN; Mode of pathogenicity: ; Publications: 11030752, 10441585, 10973263, 15523648, 17239335; Phenotypes: MUCOLIPIDOSIS IV, OMIM:252650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MCOLN1 | Achchuthan Shanmugasundram Publications for gene: MCOLN1 were updated from 10441585; 15523648; 17239335; 10973263; 11030752 to 11030752; 10441585; 10973263; 15523648; 17239335 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MCOLN1 | Rebecca Foulger reviewed gene: MCOLN1: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MCOLN1 |
Rebecca Foulger gene: MCOLN1 was added gene: MCOLN1 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MCOLN1 were set to 10441585; 15523648; 17239335; 10973263; 11030752 Phenotypes for gene: MCOLN1 were set to MUCOLIPIDOSIS IV 252650 |
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