Respiratory ciliopathies including non-CF bronchiectasis
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."Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:15 a.m.
Panel Version: 1.55
The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:15 a.m.
Panel Version: 1.55
This gene is not associated with any phenotypes in OMIM or Gene2Phenotype. Aside from the evidence provided by Zornitza Stark there does not appear to be any other evidence to support this gene-disease association.Created: 2 Dec 2020, 1:05 p.m. | Last Modified: 2 Dec 2020, 1:05 p.m.
Panel Version: 1.26
A single individual reported with a heterotaxy syndrome, but a multigenic CNV duplication. Authors also speculate the phenotype of this patient may be caused by a mutation in the LEFTY1 gene (no pathogenic missense for this gene are listed in ClinVar). Additionally, Zebrafish knockout had no phenotype.Created: 25 May 2020, 6:33 a.m. | Last Modified: 25 May 2020, 6:33 a.m.
Panel Version: 1.7
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Heterotaxy
Publications
Initial gene list and info collated by Ian Berry Leeds Genetics Laboratory November 2018 on behalf of the GMS Respiratory specialist test group. Gene Symbol submitted: CFAP46; Suggested initial gene rating: Amber; Evidence for inclusion: Very good biological candidate gene; Evidence for exclusion: Not reported yet in humans.; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none givenCreated: 5 Dec 2018, 1:54 p.m.
Tag for-review was removed from gene: CFAP46.
Source Expert Review Red was added to CFAP46. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Tag for-review tag was added to gene: CFAP46.
Phenotypes for gene: CFAP46 were changed from to Heterotaxy
Publications for gene: CFAP46 were set to
Source Expert Review Amber was added to CFAP46. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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