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DDG2P v3.12 COL4A3BP Achchuthan Shanmugasundram reviewed gene: COL4A3BP: Rating: GREEN; Mode of pathogenicity: Other; Publications: 25533962; Phenotypes: INTELLECTUAL DISABILITY, OMIM:616579; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
DDG2P v3.11 COL4A3BP Achchuthan Shanmugasundram Mode of pathogenicity for gene COL4A3BP was changed from Other - please provide details in the comments to Other
DDG2P v1.68 COL4A3BP Louise Daugherty commented on gene: COL4A3BP
DDG2P v1.68 COL4A3BP Louise Daugherty Tag new-gene-name tag was added to gene: COL4A3BP.
DDG2P v0.2 COL4A3BP Rebecca Foulger reviewed gene: COL4A3BP: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
DDG2P v0.1 COL4A3BP Rebecca Foulger gene: COL4A3BP was added
gene: COL4A3BP was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype
Mode of inheritance for gene: COL4A3BP was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Publications for gene: COL4A3BP were set to 25533962
Phenotypes for gene: COL4A3BP were set to INTELLECTUAL DISABILITY
Mode of pathogenicity for gene: COL4A3BP was set to Other - please provide details in the comments