Heterotaxy
Gene: HYDIN
Gene causes PCD without situs invertus (OMIM)
PMID: 23022101; Olbrich 2012: 2 different variants reported in 4 PCD families (One of the reported variants reported as a founder variant in 3 families). Situs invertus not a feature in the affected individuals.
PMID: 23849777; Davidson 2013: Homozygous splice variant reported in a patient with PCD and hearing loss. Reported to have similar phenotype as patients reported in Olbrich 2012.Created: 3 Jun 2020, 12:17 a.m. | Last Modified: 3 Jun 2020, 12:17 a.m.
Panel Version: 0.103
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Ciliary dyskinesia, primary, 5 (MIM#08647)
Publications
Gene: hydin has been classified as Red List (Low Evidence).
Phenotypes for gene: HYDIN were changed from to Ciliary dyskinesia, primary, 5 (MIM#08647)
Publications for gene: HYDIN were set to
Mode of inheritance for gene: HYDIN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Gene: hydin has been classified as Red List (Low Evidence).
gene: HYDIN was added gene: HYDIN was added to Heterotaxy_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: HYDIN was set to Unknown