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| DDG2P v6.344 | SLC30A7 | Achchuthan Shanmugasundram Mode of pathogenicity for gene: SLC30A7 was changed from Other to None | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.17 | SLC30A7 | Achchuthan Shanmugasundram edited their review of gene: SLC30A7: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for SLC30A7-related Joubert syndrome are limited, monoallelic_autosomal and undetermined (PMID:35751429). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P03423.; Changed phenotypes to: SLC30A7-related Joubert syndrome, SLC30A7-associated Joubert syndrome, MONDO:0018772 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.12 | SLC30A7 | Achchuthan Shanmugasundram reviewed gene: SLC30A7: Rating: RED; Mode of pathogenicity: Other; Publications: 35751429; Phenotypes: SLC30A7-associated Joubert syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | SLC30A7 |
Achchuthan Shanmugasundram gene: SLC30A7 was added gene: SLC30A7 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: SLC30A7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SLC30A7 were set to 35751429 Phenotypes for gene: SLC30A7 were set to SLC30A7-associated Joubert syndrome Mode of pathogenicity for gene: SLC30A7 was set to Other |
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