Genopathy
Gene-Disorder Association · Article
Gene
RB1
RB Transcriptional Corepressor 1
Disorder
Hypotrichosis 8
First reported 2008
Supporting publications 14
Key publication · gene–disorder Novel mutations in G protein-coupled receptor gene (P2RY5) in families with autosomal recessive hypotrichosis (LAH3).Human genetics · 2008
Key publication · disorder Woolly hair. Clinical and general aspects.Transactions of the St. John's Hospital Dermatological Society · 1974
Manually curated
Association Review

In brief

The association between RB1 (RB Transcriptional Corepressor 1) and Hypotrichosis 8 is well established and manually curated, drawing on a single expert-curated source, which records pathogenic and likely-pathogenic variants.

Sources 1
Clinical variants 20
Symptoms 41
Compounds 0
Trials 0
Publications 14
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
RB1

The gene

1 source summary

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

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04
Hypotrichosis 8

The disorder

10 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

13 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

20 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

14 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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