Activity

Filter

Cancel
Date Panel Item Activity
32 actions
Respiratory ciliopathies including non-CF bronchiectasis v4.42 CFAP46 Achchuthan Shanmugasundram changed review comment from: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene.

PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus.

In addition, this gene-disease association is supported by Chlamydomonas reinhardtii null mutant model (PMID:22573824) and gene expression data (PMID:23715323). In addition, immunofluorescence microscopy analyses of respiratory epithelial cells show that CFAP46 localises along the entire ciliary axoneme in healthy individuals but is lost in the respiratory cells of a CFAP46-PCD patient (PMID:39362668).

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene. As reviewed by Zornitza Stark below, the authors speculate that LEFTY1 variant might be responsible for the phenotype.

PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus.

In addition, this gene-disease association is supported by Chlamydomonas reinhardtii null mutant model (PMID:22573824) and gene expression data (PMID:23715323). In addition, immunofluorescence microscopy analyses of respiratory epithelial cells show that CFAP46 localises along the entire ciliary axoneme in healthy individuals but is lost in the respiratory cells of a CFAP46-PCD patient (PMID:39362668).

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
Respiratory ciliopathies including non-CF bronchiectasis v4.42 CFAP46 Achchuthan Shanmugasundram Classified gene: CFAP46 as Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.42 CFAP46 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case reported with biallelic CFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. However, these are high frequency variants with homozygotes in gnomAD.

Hence, this gene is rated red with the current evidence.
Respiratory ciliopathies including non-CF bronchiectasis v4.42 CFAP46 Achchuthan Shanmugasundram Gene: cfap46 has been classified as Red List (Low Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v4.41 CFAP46 Achchuthan Shanmugasundram Deleted their comment
Respiratory ciliopathies including non-CF bronchiectasis v4.41 CFAP46 Achchuthan Shanmugasundram edited their review of gene: CFAP46: Changed rating: RED
Respiratory ciliopathies including non-CF bronchiectasis v4.41 CFAP46 Achchuthan Shanmugasundram changed review comment from: Comment on list classification: There is only one case reported with biallelic CFFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. Hence, this gene can be rated amber with the current evidence.; to: Comment on list classification: There is only one case reported with biallelic CFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. Hence, this gene can be rated amber with the current evidence.
Respiratory ciliopathies including non-CF bronchiectasis v4.21 CFAP46 Achchuthan Shanmugasundram Classified gene: CFAP46 as Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v4.21 CFAP46 Achchuthan Shanmugasundram Added comment: Comment on list classification: There is only one case reported with biallelic CFFAP46 SNVs and respiratory phenotype. There is also functional evidence available in support of the association. Hence, this gene can be rated amber with the current evidence.
Respiratory ciliopathies including non-CF bronchiectasis v4.21 CFAP46 Achchuthan Shanmugasundram Gene: cfap46 has been classified as Amber List (Moderate Evidence).
Respiratory ciliopathies including non-CF bronchiectasis v4.20 CFAP46 Achchuthan Shanmugasundram Publications for gene: CFAP46 were set to 29843777; 39362668
Respiratory ciliopathies including non-CF bronchiectasis v4.19 CFAP46 Achchuthan Shanmugasundram edited their review of gene: CFAP46: Changed rating: AMBER; Changed publications to: 22573824, 23715323, 29843777, 39362668
Respiratory ciliopathies including non-CF bronchiectasis v4.19 CFAP46 Achchuthan Shanmugasundram changed review comment from: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene.

PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus.

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.; to: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene.

PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus.

In addition, this gene-disease association is supported by Chlamydomonas reinhardtii null mutant model (PMID:22573824) and gene expression data (PMID:23715323). In addition, immunofluorescence microscopy analyses of respiratory epithelial cells show that CFAP46 localises along the entire ciliary axoneme in healthy individuals but is lost in the respiratory cells of a CFAP46-PCD patient (PMID:39362668).

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
Respiratory ciliopathies including non-CF bronchiectasis v4.19 CFAP46 Achchuthan Shanmugasundram edited their review of gene: CFAP46: Changed publications to: 22573824, 29843777, 39362668
Respiratory ciliopathies including non-CF bronchiectasis v3.37 CFAP46 Achchuthan Shanmugasundram changed review comment from: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene.

PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus.

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.

This gene should be rated red with current evidence.; to: PMID:29843777 reported a single individual with a heterotaxy syndrome and with a multigenic CNV duplication including CFAP46. This patient also carried a variant in LEFTY1 gene.

PMID:39362668 reported a male patient with compound heterozygous CFAP46 variants and with primary ciliary dyskinesia. The patient presented with chronic respiratory symptoms, bronchiectasis, chronic rhinitis, hearing and ear symptoms, and situs solitus.

This gene has not yet been associated with relevant phenotypes in OMIM or in Gene2Phenotype.
Respiratory ciliopathies including non-CF bronchiectasis v3.37 CFAP46 Achchuthan Shanmugasundram Phenotypes for gene: CFAP46 were changed from Heterotaxy to primary ciliary dyskinesia, MONDO:0016575
Respiratory ciliopathies including non-CF bronchiectasis v3.36 CFAP46 Achchuthan Shanmugasundram Publications for gene: CFAP46 were set to 29843777
Respiratory ciliopathies including non-CF bronchiectasis v3.35 CFAP46 Achchuthan Shanmugasundram Mode of inheritance for gene: CFAP46 was changed from to BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.34 CFAP46 Achchuthan Shanmugasundram reviewed gene: CFAP46: Rating: RED; Mode of pathogenicity: None; Publications: 29843777, 39362668; Phenotypes: primary ciliary dyskinesia, MONDO:0016575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v3.25 CFAP46 Steven Cowman reviewed gene: CFAP46: Rating: AMBER; Mode of pathogenicity: None; Publications: 39362668; Phenotypes: Primary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong Tag for-review was removed from gene: CFAP46.
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: 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 in any PCD patients."
Respiratory ciliopathies including non-CF bronchiectasis v1.55 CFAP46 Ivone Leong commented on gene: CFAP46: The rating of this gene has been updated following NHS Genomic Medicine Service approval.
Respiratory ciliopathies including non-CF bronchiectasis v1.54 CFAP46 Ivone Leong Source Expert Review Red was added to CFAP46.
Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Respiratory ciliopathies including non-CF bronchiectasis v1.26 CFAP46 Ivone Leong reviewed gene: CFAP46: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None
Respiratory ciliopathies including non-CF bronchiectasis v1.26 CFAP46 Ivone Leong Tag for-review tag was added to gene: CFAP46.
Respiratory ciliopathies including non-CF bronchiectasis v1.26 CFAP46 Ivone Leong Phenotypes for gene: CFAP46 were changed from to Heterotaxy
Respiratory ciliopathies including non-CF bronchiectasis v1.25 CFAP46 Ivone Leong Publications for gene: CFAP46 were set to
Respiratory ciliopathies including non-CF bronchiectasis v1.7 CFAP46 Zornitza Stark reviewed gene: CFAP46: Rating: RED; Mode of pathogenicity: None; Publications: 29843777; Phenotypes: Heterotaxy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Respiratory ciliopathies including non-CF bronchiectasis v0.3 CFAP46 Louise Daugherty Source Expert Review Amber was added to CFAP46.
Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Respiratory ciliopathies including non-CF bronchiectasis v0.2 CFAP46 Louise Daugherty reviewed gene: CFAP46: Rating: AMBER; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Respiratory ciliopathies including non-CF bronchiectasis v0.1 CFAP46 Louise Daugherty gene: CFAP46 was added
gene: CFAP46 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS
Mode of inheritance for gene: CFAP46 was set to