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DDG2P v3.12 ABCB6 Achchuthan Shanmugasundram reviewed gene: ABCB6: Rating: RED; Mode of pathogenicity: Other; Publications: 22226084; Phenotypes: MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7, OMIM:614497; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 ABCB6 Achchuthan Shanmugasundram Mode of pathogenicity for gene ABCB6 was changed from Other - please provide details in the comments to Other
DDG2P v0.2 ABCB6 Rebecca Foulger reviewed gene: ABCB6: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 ABCB6 Rebecca Foulger gene: ABCB6 was added
gene: ABCB6 was added to DDG2P. Sources: Expert Review Red,DD-Gene2Phenotype
Mode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: ABCB6 were set to 22226084
Phenotypes for gene: ABCB6 were set to MICROPHTHALMIA, ISOLATED, WITH COLOBOMA 7 614497
Mode of pathogenicity for gene: ABCB6 was set to Other - please provide details in the comments