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Respiratory ciliopathies including non-CF bronchiectasis v4.53 CFAP54 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v4.50 CFAP54 Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: CFAP54.
Tag Q1_25_ promote_green was removed from gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v4.50 CFAP54 Eleanor Williams reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v4.49 CFAP54 Eleanor Williams Source Expert Review Green was added to CFAP54.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.41 CFAP54 Achchuthan Shanmugasundram commented on gene: CFAP54: The ClinGen Motile Ciliopathy expert panel has classified the association of autosomal recessive CFAP54 variants to ciliary dyskinesia, primary, 54 (MONDO:0100607) as 'Strong'. More information can be found in https://search.clinicalgenome.org/
Respiratory ciliopathies including non-CF bronchiectasis v3.32 CFAP54 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v3.32 CFAP54 Achchuthan Shanmugasundram Tag Q1_25_ promote_green tag was added to gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v3.32 CFAP54 Achchuthan Shanmugasundram Phenotypes for gene: CFAP54 were changed from to Ciliary dyskinesia, primary, 54, OMIM:621125
Respiratory ciliopathies including non-CF bronchiectasis v3.31 CFAP54 Achchuthan Shanmugasundram Publications for gene: CFAP54 were set to 26224312
Respiratory ciliopathies including non-CF bronchiectasis v3.30 CFAP54 Achchuthan Shanmugasundram Mode of inheritance for gene: CFAP54 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.29 CFAP54 Achchuthan Shanmugasundram Classified gene: CFAP54 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.29 CFAP54 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman and associated with relevant phenotypes in OMIM (MIM #621125), there is sufficient evidence available (five unrelated families and mouse model) for the promotion of this gene to green rating on the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v3.29 CFAP54 Achchuthan Shanmugasundram Gene: cfap54 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.28 CFAP54 Achchuthan Shanmugasundram reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 37725231, 39362668; Phenotypes: Ciliary dyskinesia, primary, 54, OMIM:621125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.25 CFAP54 Steven Cowman reviewed gene: CFAP54: Rating: GREEN; Mode of pathogenicity: None; Publications: 39362668, 37725231; Phenotypes: Primary ciliary dyskinesia, bronchiectasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong Tag for-review was removed from gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: Submitted on behalf of NHS GMS "We have been sequencing this gene for the past 2-3 years and have not yet found a clearly pathogenic variant. A number of truncating variants were identified in CFAP54 in the 100K project, but in patients with diagnoses other than PCD and loss of function does not appear to be a disease mechanism for this gene."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP54 Ivone Leong commented on gene: CFAP54: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP54 Ivone Leong Source Expert Review Red was added to CFAP54.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.24 CFAP54 Ivone Leong Tag for-review tag was added to gene: CFAP54.
Respiratory ciliopathies including non-CF bronchiectasis v1.24 CFAP54 Ivone Leong reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.24 CFAP54 Ivone Leong Publications for gene: CFAP54 were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP54 Zornitza Stark edited their review of gene: CFAP54: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP54 Zornitza Stark reviewed gene: CFAP54: Rating: RED; Mode of pathogenicity: None; Publications: 26224312; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFAP54 Louise Daugherty Source Expert Review Amber was added to CFAP54.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFAP54 Louise Daugherty reviewed gene: CFAP54: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFAP54 Louise Daugherty gene: CFAP54 was added
gene: CFAP54 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFAP54 was set to