Genopathy
Gene-Disorder Association · Article
Gene
METTL8
Methyltransferase 8, TRNA N3-Cytidine
Disorder
Woodhouse-Sakati Syndrome
First reported 2008
Supporting publications 5
Key publication · gene–disorder Mutations in C2orf37, encoding a nucleolar protein, cause hypogonadism, alopecia, diabetes mellitus, mental retardation, and extrapyramidal syndrome.American journal of human genetics · 2008
Key publication · disorder A syndrome of hypogonadism, alopecia, diabetes mellitus, mental retardation, deafness, and ECG abnormalities.Journal of medical genetics · 1983
Manually curated
Association Review

In brief

The association between METTL8 (Methyltransferase 8, TRNA N3-Cytidine) and Woodhouse-Sakati Syndrome is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 59
Symptoms 87
Compounds 0
Trials 0
Publications 5
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

1 source

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

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03
METTL8

The gene

1 source summary

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

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04
Woodhouse-Sakati Syndrome

The disorder

9 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

55 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

59 clinical variants

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

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07
Literature

Reading

5 publications

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

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08
Provenance

References & sources

12 references

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

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