Genopathy
Gene-Disorder Association · Article
Gene
CWF19L1
CWF19 Like Cell Cycle Control Factor 1
Disorder
Spinocerebellar Ataxia, Autosomal Recessive 17
First reported 1987
Supporting publications 4
Key publication · disorder A comparison of fresh and cultured T lymphocytes from patients with ataxia telangiectasia using T-cell subset markers and chromosome translocations.International journal of cancer · 1987
Manually curated
Association Review

In brief

The association between CWF19L1 (CWF19 Like Cell Cycle Control Factor 1) and Spinocerebellar Ataxia, Autosomal Recessive 17 is well established and manually curated, with its 4 contributing sources — 3 of them expert-curated — recording a known molecular basis, likely-pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 29
Symptoms 46
Compounds 0
Trials 0
Publications 4
01
At a glance

Association overview

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

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02
Provenance

Evidence and sources

4 sources

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

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03
CWF19L1

The gene

1 source summary

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

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04
Spinocerebellar Ataxia, Autosomal Recessive 17

The disorder

11 database identifiers

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

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05
Phenotype

Clinical features

37 clinical features

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

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06
ClinVar and variant evidence

Genetic basis

29 clinical variants

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

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07
Mechanism overlap

Shared mechanisms

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

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08
Literature

Reading

4 publications

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

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09
Provenance

References & sources

12 references

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

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