Respiratory ciliopathies including non-CF bronchiectasis
Gene: DNAJB13
Submitted on behalf of NHS GMS "One study only, requires more research for inlcusion into diagnostic test. Amber genes can be included in panel designs for this research."Created: 8 Mar 2022, 11:15 a.m. | Last Modified: 8 Mar 2022, 11:22 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, 11:22 a.m.
Panel Version: 1.55
This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype; however, there are only 2 reported cases. Therefore, there is currently not enough evidence for this gene to be Green. This gene should be demoted to Amber at the next review.Created: 2 Dec 2020, 2:54 p.m. | Last Modified: 2 Dec 2020, 2:54 p.m.
Panel Version: 1.39
Two unrelated families reported.Created: 25 May 2020, 7:24 a.m. | Last Modified: 25 May 2020, 7:24 a.m.
Panel Version: 1.7
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 34, MIM# 617091
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: DNAJB13; Suggested initial gene rating: Green; Evidence for inclusion: OMIM PCD gene or intersection of >2 panels; Evidence for exclusion: none given; 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: DNAJB13. Tag watchlist tag was added to gene: DNAJB13.
Source Expert Review Amber was added to DNAJB13. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag for-review tag was added to gene: DNAJB13.
Publications for gene: DNAJB13 were set to
Phenotypes for gene: DNAJB13 were changed from Ciliary dyskinesia, primary, 34, 617091 to Ciliary dyskinesia, primary, 34, OMIM:617091, MONDO:0014909
Mode of inheritance for gene: DNAJB13 was changed from to BIALLELIC, autosomal or pseudoautosomal
Phenotypes for gene: DNAJB13 were changed from to Ciliary dyskinesia, primary, 34, 617091
Source Expert Review Green was added to DNAJB13. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: DNAJB13 was added gene: DNAJB13 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: DNAJB13 was set to