Respiratory ciliopathies including non-CF bronchiectasis
Gene: HYDINEnsemblGeneIds (GRCh38): ENSG00000157423
EnsemblGeneIds (GRCh37): ENSG00000157423
OMIM: 610812, Gene2Phenotype
HYDIN is in 9 panels
4 reviews
Louise Daugherty (Genomics England Curator)
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.
Ian Berry (Leeds Genetics Laboratory)
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
Caroline Wright (Genomics England Curator)
Comment on list classification: 2 expert reviewers agree and current diagnosticCreated: 10 May 2016, 9:03 a.m.
Hannah Mitchison (UCL and GOSH)
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
- PMID:23022101
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Ciliary dyskinesia, primary, 5, OMIM:608647
- OMIM
- 610812
- Clinvar variants
- Variants in HYDIN
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: HYDIN were set to
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: HYDIN were changed from Ciliary dyskinesia, primary, 5, 608647 to Ciliary dyskinesia, primary, 5, OMIM:608647
Set mode of inheritance, Set Phenotypes
Louise Daugherty (Genomics England Curator)Mode of inheritance for gene HYDIN was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Ciliary dyskinesia, primary, 5, 608647 for gene: HYDIN
Added New Source, Status Update
Louise Daugherty (Genomics England Curator)Source Expert Review Green was added to HYDIN. Rating Changed from Red List (low evidence) to Green List (high evidence)
Created, Added New Source, Set mode of inheritance
Louise Daugherty (Genomics England Curator)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