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| DDG2P v3.12 | MAB21L2 | Achchuthan Shanmugasundram reviewed gene: MAB21L2: Rating: GREEN; Mode of pathogenicity: ; Publications: 25719200, 24906020, 26116559; Phenotypes: MICROPHTHALMIA, SYNDROMIC 14, OMIM:615877; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | MAB21L2 | Achchuthan Shanmugasundram Publications for gene: MAB21L2 were updated from 24906020 to 25719200; 24906020; 26116559 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.55 | MAB21L2 | Rebecca Foulger Added comment: Comment on mode of inheritance: In DDG2P, MICROPHTHALMIA, SYNDROMIC 14 is listed as monoallelic for an activating mutation consequence, and biallelic for a LOF mutation consequence. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v1.55 | MAB21L2 | Rebecca Foulger Mode of inheritance for gene: MAB21L2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | MAB21L2 | Rebecca Foulger reviewed gene: MAB21L2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAB21L2 | Rebecca Foulger Added phenotypes MICROPHTHALMIA, SYNDROMIC 14 615877 for gene: MAB21L2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | MAB21L2 |
Rebecca Foulger gene: MAB21L2 was added gene: MAB21L2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: MAB21L2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: MAB21L2 were set to 24906020 Phenotypes for gene: MAB21L2 were set to MICROPHTHALMIA, SYNDROMIC 14 615877 |
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