Respiratory ciliopathies including non-CF bronchiectasis
Gene: ARMC4Added new-gene-name tag, new approved HGNC gene symbol for ARMC4 is ODAD2Created: 24 Feb 2021, 5:01 p.m. | Last Modified: 24 Feb 2021, 5:01 p.m.
Panel Version: 1.43
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: ARMC4; 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.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 23, 615451
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: 2 green list ratings from expert reviewers and current diagnosticCreated: 10 May 2016, 8:52 a.m.
UK mutations reportedCreated: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 23
Publications
Variants in this GENE are reported as part of current diagnostic practice
Tag new-gene-name tag was added to gene: ARMC4.
Mode of inheritance for gene ARMC4 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 23, 615451 for gene: ARMC4
Source Expert Review Green was added to ARMC4. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: ARMC4 was added gene: ARMC4 was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: ARMC4 was set to