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DDG2P v3.12 | PITX2 | Achchuthan Shanmugasundram reviewed gene: PITX2: Rating: GREEN; Mode of pathogenicity: ; Publications: 11301317, 15591271, 11487566, 7581385, 8944018, 22224469, 8942889; Phenotypes: RING DERMOID OF CORNEA, OMIM:180550, AXENFELD-RIEGER SYNDROME TYPE 1, OMIM:180500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v3.11 | PITX2 | Achchuthan Shanmugasundram Publications for gene: PITX2 were updated from 8944018; 11301317; 11487566 to 11301317; 15591271; 11487566; 7581385; 8944018; 22224469; 8942889 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.2 | PITX2 | Rebecca Foulger reviewed gene: PITX2: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance: | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PITX2 | Rebecca Foulger Added phenotypes PETERS ANOMALY 604229 for gene: PITX2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
DDG2P v0.1 | PITX2 |
Rebecca Foulger Added phenotypes AXENFELD-RIEGER SYNDROME TYPE 1 180500 for gene: PITX2 Publications for gene PITX2 were changed from 15591271 to 8944018; 11301317; 11487566 |
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DDG2P v0.1 | PITX2 |
Rebecca Foulger Added phenotypes RING DERMOID OF CORNEA 180550 for gene: PITX2 Publications for gene PITX2 were changed from 8942889; 7581385 to 15591271 |
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DDG2P v0.1 | PITX2 |
Rebecca Foulger gene: PITX2 was added gene: PITX2 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: PITX2 were set to 8942889; 7581385 Phenotypes for gene: PITX2 were set to IRIDOGONIODYSGENESIS TYPE 2 137600 |