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DDG2P v3.12 | GNPAT | Achchuthan Shanmugasundram reviewed gene: GNPAT: Rating: GREEN; Mode of pathogenicity: ; Publications: 9536089, 1405476, 9843043, 21990100; Phenotypes: RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2, OMIM:222765; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | GNPAT | Achchuthan Shanmugasundram Publications for gene: GNPAT were updated from 21990100; 9843043; 9536089; 1405476 to 9536089; 9843043; 1405476; 21990100 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | GNPAT | Rebecca Foulger reviewed gene: GNPAT: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | GNPAT |
Rebecca Foulger gene: GNPAT was added gene: GNPAT was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPAT were set to 21990100; 9843043; 9536089; 1405476 Phenotypes for gene: GNPAT were set to RHIZOMELIC CHONDRODYSPLASIA PUNCTATA TYPE 2 222765 |