Activity
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| Respiratory ciliopathies including non-CF bronchiectasis v4.44 | CFAP43 | Achchuthan Shanmugasundram Tag disputed tag was added to gene: CFAP43. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.32 | CFAP43 |
Achchuthan Shanmugasundram Source Literature was removed from CFAP43. Source ClinGen was added to CFAP43. |
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| Respiratory ciliopathies including non-CF bronchiectasis v4.31 | CFAP43 |
Achchuthan Shanmugasundram gene: CFAP43 was added gene: CFAP43 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature Mode of inheritance for gene: CFAP43 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: CFAP43 were set to Spermatogenic failure 19, OMIM:617592; primary ciliary dyskinesia, MONDO:0016575 Review for gene: CFAP43 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive CFAP43 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:004425. Sources: Literature |
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