Activity
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4 actions
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| DDG2P v4.10 | POMGNT2 | Achchuthan Shanmugasundram commented on gene: POMGNT2: The DDG2P confidence category for the disease WALKER WARBERG SYNDROME, OMIM:614830 is strong. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMID: 22958903). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | POMGNT2 | Achchuthan Shanmugasundram reviewed gene: POMGNT2: Rating: GREEN; Mode of pathogenicity: ; Publications: 22958903; Phenotypes: WALKER WARBERG SYNDROME, OMIM:614830; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.2 | POMGNT2 | Rebecca Foulger reviewed gene: POMGNT2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v0.1 | POMGNT2 |
Rebecca Foulger gene: POMGNT2 was added gene: POMGNT2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POMGNT2 were set to 22958903 Phenotypes for gene: POMGNT2 were set to WALKER WARBERG SYNDROME 614830 |
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