HYDIN Chromosome 16

HYDIN axonemal central pair apparatus protein
51 variants 51 Health Risk

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What This Gene Does
This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause of autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain. A duplicate copy of this gene has been found in humans on chromosome 1. [provided by RefSeq, Jan 2013]
Gene Info
Gene Group
Protein phosphatase 1 regulatory subunits
Locus Type
gene with protein product
Location
16q22.2
Ensembl
ENSG00000157423
Associated Conditions (4)
Primary ciliary dyskinesia 5
HYDIN-related disorder
Inborn genetic diseases
Primary ciliary dyskinesia
Key Variants
RS11075798
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
Health Risk
RS113448164
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 5, HYDIN-related disorder, Primary ciliary dyskinesia 5
Health Risk
RS199690569
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
Health Risk
RS199706377
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
Health Risk
RS200347208
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS370020334
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS79607350
Conflicting classifications of pathogenicity
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
Health Risk
RS796549333
Conflicting classifications of pathogenicity
Inborn genetic diseases, Inborn genetic diseases
Health Risk
RS1064795912
Likely pathogenic
Health Risk
RS11337008
Likely pathogenic
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
Health Risk
RS1270003368
Likely pathogenic
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
Health Risk
RS1396390185
Likely pathogenic
Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
Health Risk
All Variants (51)
RSID Category Clinical Significance Conditions
RS916834956 Health Risk Pathogenic Primary ciliary dyskinesia 5, Primary ciliary dyskinesia 5
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