HYDIN
Homo sapiens
Gene Name: HYDIN, axonemal central pair apparatus protein
Aliases: CILD5, HYDIN1, HYDIN2, PPP1R31
Chromosome No: 16
Chromosome Band: 16q22.2
Genetic Category: Multigenic CNV-Rare single gene variant-Genetic association
Aliases: CILD5, HYDIN1, HYDIN2, PPP1R31
Chromosome No: 16
Chromosome Band: 16q22.2
Genetic Category: Multigenic CNV-Rare single gene variant-Genetic association
Summary Statistics:
ASD Reports: 5
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 10
Evidence score: 2
ASD Reports: 5
Recent Reports: 0
Annotated variants: 12
Associated CNVs: 10
Evidence score: 2
| Associated Disorders: |
|
Relevance to Autism
Three large CNVs (one deletion and two duplications) that include HYDIN were identified in unrelated ASD probands; of the events affecting HYDIN, two arose de novo in simplex ASD cases, and one was inherited in a multiplex autism family where the CNV segregated with disease (Girirajan et al., 2013).
Molecular Function
This gene encodes a protein that may be involved in cilia motility. Mutations in this gene cause autosomal recessive primary ciliary dyskinesia-5, a disorder characterized by the accumulation of cerebrospinal fluid within the ventricles of the brain.
External Links
References
Type
Title
Type of Disorder
Associated Disorders
Author, Year
Primary
Refinement and discovery of new hotspots of copy-number variation associated with autism spectrum disorder.
ASD
Positive Association
Common schizophrenia alleles are enriched in mutation-intolerant genes and in regions under strong background selection.
SCZ
Support
Rates, distribution and implications of postzygotic mosaic mutations in autism spectrum disorder.
ASD
Rare
Variant ID
Variant Type
Allele Change
Residue Change
Inheritance Pattern
Inheritance Association
Family Type
Author, Year
Common
Variant ID
Polymorphism
SNP ID
Allele Change
Residue Change
Population Origin
Population Stage
Author, Year
GEN514C001
intergenic_variant
rs2161711
A>G
40,675 SCZ cases and 64,643 controls (CLOZUK and independent PGC datasets)
Discovery
