Respiratory ciliopathies including non-CF bronchiectasis
Gene: HYDIN
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: HYDIN; 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?): Highly similar pseudogene.Created: 5 Dec 2018, 1:54 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 5, 608647
Variants in this GENE are reported as part of current diagnostic practice
Comment on list classification: 2 expert reviewers agree and current diagnosticCreated: 10 May 2016, 9:03 a.m.
UK mutations reported. Note that HYDIN2 on Chr1 is an almost identical copy gene that can cause confusion for diagnostics (Olbrich etal. Am. J. Hum. Genet. 91: 672-684, 2012)Created: 8 Dec 2015, 4:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 5
Publications
Variants in this GENE are reported as part of current diagnostic practice
Mode of inheritance for gene HYDIN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Source Expert Review Green was added to HYDIN. Rating Changed from Red List (low evidence) to Green List (high evidence)
gene: HYDIN was added gene: HYDIN was added to Respiratory ciliopathies including non-CF bronchiectasis. Sources: NHS GMS Mode of inheritance for gene: HYDIN was set to