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Respiratory ciliopathies including non-CF bronchiectasis v4.51 CFAP74 Achchuthan Shanmugasundram Added comment: Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIM #620197) and the OMIM record was last accessed on 18 December 2025.
Respiratory ciliopathies including non-CF bronchiectasis v4.51 CFAP74 Achchuthan Shanmugasundram Phenotypes for gene: CFAP74 were changed from Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197 to Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197; ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197
Respiratory ciliopathies including non-CF bronchiectasis v4.50 CFAP74 Achchuthan Shanmugasundram Tag gene-checked tag was added to gene: CFAP74.
Respiratory ciliopathies including non-CF bronchiectasis v4.50 CFAP74 Eleanor Williams Tag Q1_25_ NHS_review was removed from gene: CFAP74.
Tag Q1_25_ promote_green was removed from gene: CFAP74.
Tag Q1_25_ expert_review was removed from gene: CFAP74.
Respiratory ciliopathies including non-CF bronchiectasis v4.50 CFAP74 Eleanor Williams reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v4.49 CFAP74 Eleanor Williams Source NHS GMS was added to CFAP74.
Source Expert Review Green was added to CFAP74.
Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.44 CFAP74 Achchuthan Shanmugasundram commented on gene: CFAP74: The ClinGen Motile Ciliopathy expert panel has updated the classification for the association of CFAP74 gene to ciliary dyskinesia, primary, 49, without situs inversus (MONDO:0859353) from 'Limited' to 'Moderate' on 18/06/2025.

The reason for classification change is summarised in ClinGen (https://search.clinicalgenome.org/CCID:004429) as follows:
"Recurated and changed classification from Limited to Moderate. Additional proband from a ClinVar submission, and additional immunofluorescence data from patients previously reported."
Respiratory ciliopathies including non-CF bronchiectasis v4.4 CFAP74 Arina Puzriakova Tag watchlist was removed from gene: CFAP74.
Respiratory ciliopathies including non-CF bronchiectasis v4.4 CFAP74 Arina Puzriakova Tag Q1_25_ expert_review tag was added to gene: CFAP74.
Respiratory ciliopathies including non-CF bronchiectasis v4.4 CFAP74 Arina Puzriakova commented on gene: CFAP74
Respiratory ciliopathies including non-CF bronchiectasis v3.28 CFAP74 Achchuthan Shanmugasundram Classified gene: CFAP74 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v3.28 CFAP74 Achchuthan Shanmugasundram Added comment: Comment on list classification: As reviewed by Steven Cowman and associated with relevant phenotypes in OMIM (MIM #620197), there is sufficient evidence available (four unrelated families in total) for the promotion of this gene to green rating on the next GMS update.
Respiratory ciliopathies including non-CF bronchiectasis v3.28 CFAP74 Achchuthan Shanmugasundram Gene: cfap74 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v3.27 CFAP74 Achchuthan Shanmugasundram Phenotypes for gene: CFAP74 were changed from Primary ciliary dyskinesia; infertility to Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197
Respiratory ciliopathies including non-CF bronchiectasis v3.26 CFAP74 Achchuthan Shanmugasundram Publications for gene: CFAP74 were set to 32555313
Respiratory ciliopathies including non-CF bronchiectasis v3.25 CFAP74 Achchuthan Shanmugasundram Tag Q1_25_ NHS_review tag was added to gene: CFAP74.
Tag Q1_25_ promote_green tag was added to gene: CFAP74.
Respiratory ciliopathies including non-CF bronchiectasis v3.25 CFAP74 Achchuthan Shanmugasundram reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: None; Publications: 32555313, 36047773, 39362668; Phenotypes: Ciliary dyskinesia, primary, 49, without situs inversus, OMIM:620197; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.25 CFAP74 Steven Cowman reviewed gene: CFAP74: Rating: GREEN; Mode of pathogenicity: None; Publications: 32555313, 36047773, 39362668; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.15 CFAP74 Ivone Leong Tag watchlist tag was added to gene: CFAP74.
Respiratory ciliopathies including non-CF bronchiectasis v1.14 CFAP74 Ivone Leong Classified gene: CFAP74 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.14 CFAP74 Ivone Leong Added comment: Comment on list classification: New gene added by Zornitza Stark (Australian Genomics). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the available evidence there is not enough evidence to support a gene-disease association. This gene has been given an Amber rating.
Respiratory ciliopathies including non-CF bronchiectasis v1.14 CFAP74 Ivone Leong Gene: cfap74 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP74 Zornitza Stark gene: CFAP74 was added
gene: CFAP74 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: Literature
Mode of inheritance for gene: CFAP74 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: CFAP74 were set to 32555313
Phenotypes for gene: CFAP74 were set to Primary ciliary dyskinesia; infertility
Review for gene: CFAP74 was set to AMBER
Added comment: Two unrelated individuals with compound het missense variants reported.
Sources: Literature