Primary ciliary disorders
Gene: HYDINEnsemblGeneIds (GRCh38): ENSG00000157423
EnsemblGeneIds (GRCh37): ENSG00000157423
OMIM: 610812, Gene2Phenotype
HYDIN is in 9 panels
3 reviews
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
- UKGTN
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Ciliary dyskinesia, primary, 5, OMIM:608647
- OMIM
- 610812
- Clinvar variants
- Variants in HYDIN
- Penetrance
- Complete
- 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
Caroline Wright (Genomics England Curator)Mode of inheritance for HYDIN was changed to BIALLELIC, autosomal or pseudoautosomal
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Caroline Wright (Genomics England Curator)This gene has been classified as Amber List (Moderate Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)HYDIN was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)HYDIN was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN