ODAD4

outer dynein arm docking complex subunit 4, the group of Outer dynein arm docking complex subunits|Tetratricopeptide repeat domain containing

Basic information

Region (hg38): 17:41930617-41966503

Previous symbols: [ "TTC25" ]

Links

ENSG00000204815 ∙ NCBI:83538 ∙ OMIM:617095 ∙ HGNC:25280 ∙ Uniprot:Q96NG3 ∙ AlphaFold ∙ GenCC ∙ jax ∙ Sfari ∙ GnomAD ∙ Pubmed ∙ ClinVar

Phenotypes

GenCC

Source: genCC

• primary ciliary dyskinesia (Supportive), mode of inheritance: AD
• primary ciliary dyskinesia 35 (Strong), mode of inheritance: AR
• primary ciliary dyskinesia 35 (Definitive), mode of inheritance: AR
• primary ciliary dyskinesia 35 (Strong), mode of inheritance: AR

Clinical Genomic Database

Source: CGD

Condition	Inheritance	Intervention Categories	Intervention/Rationale	Manifestation Categories	References
Ciliary dyskinesia, primary, 35	AR	Allergy/Immunology/Infectious; Audiologic/Otolaryngologic; Cardiovascular; Pulmonary	Pulmonary and audiologic surveillance may be beneficial to assess respiratory and hearing function and institute early management measures; In order to facilitate mucus clearance, aggressive interventions (eg, chest percussion and oscillatory vest), as well as vaccinations and early and aggressive treatment of respiratory infections may be beneficial, though measures including lobectomy or lung transplantation may be necessary; Individuals may require surgery or other interventions related to congenital cardiac malformations	Allergy/Immunology/Infectious; Cardiovascular; Gastrointestinal	27486780

ClinVar

This is a list of variants' phenotypes submitted to ClinVar and linked to the ODAD4 gene.

• Inborn_genetic_diseases (44 variants)
• Primary_ciliary_dyskinesia_35 (9 variants)
• ODAD4-related_disorder (9 variants)
• not_provided (3 variants)
• Primary_ciliary_dyskinesia (1 variants)
• not_specified (1 variants)
• Heterotaxy (1 variants)

Variants pathogenicity by type

Statistics on ClinVar variants can assist in determining whether a specific variant type in the ODAD4 gene is commonly pathogenic or not. These statistics are base on transcript: NM_000031421.5. Only rare variants are included in the table.

In the table, we include only reliable ClinVar variants with their consequences to MANE Select, Mane Plus Clinical transcripts, or transcripts with TSL equals 1. Click the count to view the source variants.

Warning: slight differences between displayed counts and the number of variants in ClinVar may occur, primarily due to (1) the application of a different transcript and/or consequence by our variant effect predictor or (2) differences in clinical significance: we classify Benign/Likely benign variants as Likely benign and Pathogenic/Likely pathogenic variants as Likely pathogenic.

Effect	Pathogenic	Likely pathogenic	VUS	Likely benign	Benign	Sum
synonymous				3		3
missense		1	44	6		51
nonsense	1	1				2
start loss						0
frameshift	3	1	1			5
splice donor/acceptor (+/-2bp)	3					3
Total	7	3	45	9	0

Highest pathogenic variant AF is 0.0000749816

GnomAD

Source: gnomAD

dbNSFP

Source: dbNSFP

• Function: FUNCTION: Required for the docking of the outer dynein arm to cilia, hence plays an essential role in cilia motility. {ECO:0000269|PubMed:27486780}.

Haploinsufficiency Scores

• pHI: 0.0716

Essentials

• gene_indispensability_pred: N
• gene_indispensability_score: 0.351

Mouse Genome Informatics

• Gene name: Ttc25
• Phenotype: cellular phenotype; growth/size/body region phenotype; nervous system phenotype (the observable morphological and physiological characteristics of the extensive, intricate network of electochemical structures in the body that is comprised of the brain, spinal cord, nerves, ganglia and parts of the receptor organs that are manifested through development and lifespan); embryo phenotype; respiratory system phenotype; mortality/aging (the observable characteristics related to the ability of a mammalian organism to live and age that are manifested throughout development and life span); cardiovascular system phenotype (the observable morphological and physiological characteristics of the mammalian heart, blood vessels, or circulatory system that are manifested through development and lifespan)

Zebrafish Information Network

• Gene name: ttc25
• Affected structure: otolith
• Phenotype tag: abnormal
• Phenotype quality: morphology

Gene ontology

• Cellular component: cytoplasm;cytoskeleton;cell projection
• Molecular function: protein binding