Respiratory ciliopathies including non-CF bronchiectasis
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."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. There are no reports of this gene being associated with a phenotype in humans. There are mouse models only. Therefore, this gene should be demoted to Red at the next review.Created: 2 Dec 2020, 11:47 a.m. | Last Modified: 2 Dec 2020, 11:47 a.m.
Panel Version: 1.24
Mouse model only, cannot find reports in humans.Created: 25 May 2020, 6:39 a.m. | Last Modified: 25 May 2020, 6:39 a.m.
Panel Version: 1.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
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: CFAP54; Suggested initial gene rating: Amber; Evidence for inclusion: Causes classical PCD in mouse model.; 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: CFAP54.
Source Expert Review Red was added to CFAP54. Rating Changed from Amber List (moderate evidence) to Red List (low evidence)
Tag for-review tag was added to gene: CFAP54.
Publications for gene: CFAP54 were set to
Source Expert Review Amber was added to CFAP54. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
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