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| DDG2P v6.17 | TTC12 | Achchuthan Shanmugasundram edited their review of gene: TTC12: Added comment: The DDG2P confidence category, allelic requirement and molecular mechanism for TTC12-related primary ciliary dyskinesia are strong, biallelic_autosomal and loss of function (PMID:31978331). More details can be found in https://www.ebi.ac.uk/gene2phenotype/lgd/G2P02927.; Changed rating: GREEN; Changed phenotypes to: TTC12-related Primary Ciliary Dyskinesia, OMIM:618801.0, MONDO:0032924, TTC12-related primary ciliary dyskinesia | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v6.16 | TTC12 |
Achchuthan Shanmugasundram Source Expert Review Green was added to TTC12. Rating Changed from Red List (low evidence) to Green List (high evidence) |
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| DDG2P v3.12 | TTC12 | Achchuthan Shanmugasundram reviewed gene: TTC12: Rating: RED; Mode of pathogenicity: ; Publications: 31978331; Phenotypes: TTC12-related Primary Ciliary Dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| DDG2P v3.11 | TTC12 |
Achchuthan Shanmugasundram gene: TTC12 was added gene: TTC12 was added to DDG2P. Sources: DD-Gene2Phenotype,Expert Review Red Mode of inheritance for gene: TTC12 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: TTC12 were set to 31978331 Phenotypes for gene: TTC12 were set to TTC12-related Primary Ciliary Dyskinesia |
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