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Respiratory ciliopathies including non-CF bronchiectasis v3.5 FOXJ1 Achchuthan Shanmugasundram Classified gene: FOXJ1 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.5 FOXJ1 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman, there is sufficient evidence available for the promotion of this gene to green rating in the next GMS review.
Respiratory ciliopathies including non-CF bronchiectasis v3.5 FOXJ1 Achchuthan Shanmugasundram Gene: foxj1 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.4 FOXJ1 Achchuthan Shanmugasundram Publications for gene: FOXJ1 were set to 31630787
Respiratory ciliopathies including non-CF bronchiectasis v3.3 FOXJ1 Achchuthan Shanmugasundram Tag Q4_23_promote_green tag was added to gene: FOXJ1.
Tag Q4_23_NHS_review tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v3.3 FOXJ1 Achchuthan Shanmugasundram reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v3.3 FOXJ1 Steven Cowman reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787, 37469238, 37813609; Phenotypes: Motile ciliopathy, situs inversus, hydrocephalus; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong Tag for-review was removed from gene: FOXJ1.
Tag watchlist tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong changed review comment from: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.; to: After NHS Genomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 FOXJ1 Ivone Leong commented on gene: FOXJ1: After NHSGenomic Medicine Service consideration, the rating of this gene has not been changed.
Respiratory ciliopathies including non-CF bronchiectasis v1.34 FOXJ1 Ivone Leong Classified gene: FOXJ1 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.34 FOXJ1 Ivone Leong Added comment: Comment on list classification: This gene is associated with a relevant phenotype in OMIM. There is enough evidence to support a gene-disease association. This gene should be promoted to Green at the next review.
Respiratory ciliopathies including non-CF bronchiectasis v1.34 FOXJ1 Ivone Leong Gene: foxj1 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.33 FOXJ1 Ivone Leong Tag for-review tag was added to gene: FOXJ1.
Respiratory ciliopathies including non-CF bronchiectasis v1.33 FOXJ1 Ivone Leong Phenotypes for gene: FOXJ1 were changed from Motile ciliopathy; situs inversus, hydrocephalus to Ciliary dyskinesia, primary, 43, OMIM:618699, MONDO:0032874
Respiratory ciliopathies including non-CF bronchiectasis v1.7 FOXJ1 Zornitza Stark reviewed gene: FOXJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31630787; Phenotypes: Hydrocephalus, chronic destructive airway disease, randomization of left/right body asymmetry; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes
Respiratory ciliopathies including non-CF bronchiectasis v1.2 FOXJ1 Louise Daugherty Publications for gene: FOXJ1 were set to PMID: 31630787
Respiratory ciliopathies including non-CF bronchiectasis v1.1 FOXJ1 Louise Daugherty Classified gene: FOXJ1 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.1 FOXJ1 Louise Daugherty Added comment: Comment on list classification: New gene added by external reviewer after panel sign off to V1.0- to be reviewed at next panel update with the respiratory Test Group for GMS
Respiratory ciliopathies including non-CF bronchiectasis v1.1 FOXJ1 Louise Daugherty Gene: foxj1 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.0 FOXJ1 Hannah Mitchison gene: FOXJ1 was added
gene: FOXJ1 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: FOXJ1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Publications for gene: FOXJ1 were set to PMID: 31630787
Phenotypes for gene: FOXJ1 were set to Motile ciliopathy; situs inversus, hydrocephalus
Penetrance for gene: FOXJ1 were set to Complete
Mode of pathogenicity for gene: FOXJ1 was set to Other
Review for gene: FOXJ1 was set to AMBER
Added comment: Wallmeier et al 2019 report the first known cause of autosomal dominant 'PCD' - referred to here more as a motile ciliopathy, than strictly PCD, because there are reduced cilia numbers but no structural changes in the cilia axonemes which are typical for diagnosing PCD. The reported mutations are associated in this sole paper with haploinsufficiency. Wallmeier et al report FOXJ1 mutations in 6 unrelated patients - all were heterozygous, single de novo variants.
Sources: Literature