Activity
| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
3 actions
|
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.26 | DNAH7 |
Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH7 variants to ciliary dyskinesia, primary, 50 (MONDO:0957252) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008791 for more information. Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH7 variants to ciliary dyskinesia, primary, 50 (MONDO:0957252) as 'Limited'. More information can be found in https://search.clinicalgenome.org/CCID:008791. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.26 | DNAH7 |
Achchuthan Shanmugasundram changed review comment from: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 50 (MONDO:0957252). Sources: ClinGen; to: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive DNAH7 variants to ciliary dyskinesia, primary, 50 (MONDO:0957252) as 'Limited'. Please see https://search.clinicalgenome.org/CCID:008791 for more information. Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Respiratory ciliopathies including non-CF bronchiectasis v4.25 | DNAH7 |
Achchuthan Shanmugasundram gene: DNAH7 was added gene: DNAH7 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: ClinGen Mode of inheritance for gene: DNAH7 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DNAH7 were set to Ciliary dyskinesia, primary, 50, OMIM:620356; ciliary dyskinesia, primary, 50, MONDO:0957252 Review for gene: DNAH7 was set to RED Added comment: The ClinGen Motile Ciliopathy expert panel has classified this association as 'Limited' for ciliary dyskinesia, primary, 50 (MONDO:0957252). Sources: ClinGen |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||