Ciliary Dyskinesia
Gene: HYDIN

HYDIN (HYDIN, axonemal central pair apparatus protein)
EnsemblGeneIds (GRCh38): ENSG00000157423
EnsemblGeneIds (GRCh37): ENSG00000157423
OMIM: 610812, Gene2Phenotype
HYDIN is in 8 panels

1 review

Crystle Lee (Victorian Clinical Genetics Services)

Green List (high evidence)

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

PMID: 28441829; Chen 2017: Article in chinese, abstract indicates compound heterozygous variants reported in a child with PCD

PanelApp UK: Green in PCD list.
Created: 3 Jun 2020, 12:29 a.m. | Last Modified: 3 Jun 2020, 12:29 a.m.

Panel Version: 0.113

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Ciliary dyskinesia, primary, 5 (MIM#608647)

Publications

Created: 3 Jun 2020, 12:29 a.m.
Last Modified: 3 Jun 2020, 12:29 a.m.
Panel version: 0.113

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Green
Victorian Clinical Genetics Services

Phenotypes

Ciliary dyskinesia, primary, 5 (MIM#608647)

OMIM

610812

Clinvar variants

Variants in HYDIN

Penetrance

None

Publications

Panels with this gene