Primary ciliary disorders
Gene: HYDIN
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 HYDIN was changed to BIALLELIC, autosomal or pseudoautosomal
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Amber List (Moderate Evidence).
HYDIN was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN
HYDIN was added to Primary ciliary disorderspanel. Sources: Radboud University Medical Center, Nijmegen,UKGTN