TTC12

Chr 11AR

tetratricopeptide repeat domain 12

Also known as: CILD45, TPARM

NCBI Gene: 54970 ENSG00000149292 UniProt: Q9H892 OMIM: 610732

Involved in axonemal dynein complex assembly and sperm axoneme assembly. Located in centrosome and cytoplasm. Implicated in acute lymphoblastic leukemia; alcohol dependence; drug dependence (multiple); nicotine dependence; and primary ciliary dyskinesia 45. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviews OMIM Research

GeneReviews OMIM ResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Ciliary dyskinesia, primary, 45MIM #618801

Clinical highlights

Gene–disease validity (ClinGen)

Definitive · ciliary dyskinesia, primary, 45 · AR · ClinGen 2025

Interpreting a novel variant

Loss of function is the curated mechanism (Gene2Phenotype), though the gene is not strongly LoF-constrained in the population — weigh truncating variants against that tolerance.Curated gene-level mechanism — a prior for triage, not a per-variant call.

Active trials

Pubs (1 yr)

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P/LP submissions

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P/LP missense

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LOEUF

LOF

Mechanism· G2P

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GeneReview available — TTC12

Authoritative clinical overview · Recommended first read

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Some data sources returned errors (1)

gnomad: Error: gnomAD API error: 400

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

Background carrier burden — how many people carry a rare variant somewhere in TTC12?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 45

998 rare PASS variants

Rare truncating (LoF)

1 in 580

179 rare PASS variants

Rare synonymous (reference)

1 in 140

358 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for TTC12. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 59	1 in 550
South Asian	~43k	1 in 42	1 in 600
Remaining (unassigned)	~30k	1 in 41	1 in 340
European (Finnish)	~27k	1 in 280	1 in 1,500
Admixed American	~22k	1 in 42	1 in 870
African / African American	~21k	1 in 55	1 in 450
East Asian	~20k	1 in 54	1 in 720
Ashkenazi Jewish	~13k	1 in 300	1 in 1,100
Middle Eastern	~2,884	1 in 45	1 in 410

Each group is summed over the variants that are rare in that group. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.