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| Respiratory ciliopathies including non-CF bronchiectasis v4.44 | AK7 | Achchuthan Shanmugasundram Tag disputed tag was added to gene: AK7. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.30 | AK7 |
Achchuthan Shanmugasundram gene: AK7 was added gene: AK7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: AK7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: AK7 were set to ?Spermatogenic failure 27, OMIM:617965; primary ciliary dyskinesia, MONDO:0016575 Review for gene: AK7 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive AK7 variants to primary ciliary dyskinesia (MONDO:0016575) as 'Disputed'. More information can be found in https://search.clinicalgenome.org/CCID:004087. Sources: ClinGen |
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