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| DDG2P v3.14 | COL4A3 |
Achchuthan Shanmugasundram changed review comment from: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635). The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301).; to: The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 is definitive. The allelic requirement, mutation consequence and cross cutting modifier are monoallelic_autosomal, absent gene product and potential IF respectively (PMIDs: 11134255;9269635). The DDG2P confidence category for the disease ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780 is definitive. The allelic requirement and mutation consequence are biallelic_autosomal and absent gene product (PMIDs: 7987396;7633417;9792860;7987301). |
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| DDG2P v3.14 | COL4A3 | Achchuthan Shanmugasundram Phenotypes for gene: COL4A3 were changed from ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 to ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.14 | COL4A3 | Achchuthan Shanmugasundram Phenotypes for gene: COL4A3 were changed from ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780; ALPORT SYNDROME AUTOSOMAL DOMINANT 104200 to ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780; ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.12 | COL4A3 | Achchuthan Shanmugasundram reviewed gene: COL4A3: Rating: GREEN; Mode of pathogenicity: ; Publications: 9792860, 7633417, 7987301, 11134255, 9269635, 7987396; Phenotypes: ALPORT SYNDROME AUTOSOMAL RECESSIVE, OMIM:203780, ALPORT SYNDROME AUTOSOMAL DOMINANT, OMIM:104200; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v3.11 | COL4A3 | Achchuthan Shanmugasundram Publications for gene: COL4A3 were updated from 11134255; 9269635 to 9792860; 7633417; 7987301; 11134255; 9269635; 7987396 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 v0.2 | COL4A3 | Rebecca Foulger reviewed gene: COL4A3: 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 |
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| DDG2P v0.1 | COL4A3 |
Rebecca Foulger Added phenotypes ALPORT SYNDROME AUTOSOMAL DOMINANT 104200 for gene: COL4A3 Publications for gene COL4A3 were changed from 7633417; 7987396; 7987301; 9792860 to 11134255; 9269635 |
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| DDG2P v0.1 | COL4A3 |
Rebecca Foulger gene: COL4A3 was added gene: COL4A3 was added to DDG2P. Sources: Expert Review Green,DD-Gene2Phenotype Mode of inheritance for gene: COL4A3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: COL4A3 were set to 7633417; 7987396; 7987301; 9792860 Phenotypes for gene: COL4A3 were set to ALPORT SYNDROME AUTOSOMAL RECESSIVE 203780 |
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