Genopathy
Gene-Disorder Association · Article
Gene
DNAL1
Dynein Axonemal Light Chain 1
Disorder
Primary Ciliary Dyskinesia
First reported 2011
Supporting publications 1
Key publication · gene–disorder Primary ciliary dyskinesia caused by homozygous mutation in DNAL1, encoding dynein light chain 1.American journal of human genetics · 2011
Key publication · disorder The Kartagener syndrome.The Journal of the Medical Society of New Jersey · 1950
Manually curated
Association Review

In brief

The association between DNAL1 (Dynein Axonemal Light Chain 1) and Primary Ciliary Dyskinesia is well established and manually curated, with its 3 contributing sources — 2 of them expert-curated — recording pathogenic variants and a causative germline mutation.

Sources 3
Clinical variants 30
Symptoms 48
Compounds 0
Trials 0
Publications 1
01
At a glance

Association overview

A cited synthesis of the gene–disorder association, with a clinical-actionability summary where the evidence supports one.

Request access
02
Provenance

Evidence and sources

3 sources

Every contributing database and publication behind this association, with evidence type, strength, accessions and deep links.

Request access
03
DNAL1

The gene

1 source summary

A gene summary alongside the source descriptions it was distilled from.

Request access
04
Primary Ciliary Dyskinesia

The disorder

10 database identifiers

The disorder’s summary, prevalence, aliases and cross-reference identifiers (OMIM, Orphanet, MONDO, ICD-10, MedGen).

Request access
05
Phenotype

Clinical features

46 clinical features

The disorder’s clinical features (HPO) grouped by body system, each with observed frequency and penetrance.

Request access
06
ClinVar and variant evidence

Genetic basis

30 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

Request access
07
Mechanism overlap

Shared mechanisms

1 shared pathway

Biological pathways and phenotype concepts shared by the gene and the disorder, with supporting publications.

Request access
08
Literature

Reading

1 publication

Publications linking the gene and the disorder, with title, authors, journal, year and citation metrics.

Request access
09
Provenance

References & sources

9 references

Every source and publication cited across this dossier, as one numbered reference list.

Request access