Genopathy
Gene-Disorder Association · Article
Gene
RBSN
Rabenosyn, RAB Effector
Disorder
Myelofibrosis, Congenital, With Anemia, Neutropenia, Developmental Delay, And Ocular Abnormalities
First reported 2018
Supporting publications 1
Key publication · disorder Syndromic congenital myelofibrosis associated with a loss-of-function variant in RBSN.Blood · 2018
Manually curated
Association Review

In brief

The association between RBSN (Rabenosyn, RAB Effector) and Myelofibrosis, Congenital, With Anemia, Neutropenia, Developmental Delay, And Ocular Abnormalities is well established and manually curated, with its 4 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic variants, and a causative germline mutation.

Sources 4
Clinical variants 1
Symptoms 107
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.

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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
RBSN

The gene

1 source summary

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

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04
Myelofibrosis, Congenital, With Anemia, Neutropenia, Developmental Delay, And Ocular Abnormalities

The disorder

7 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

78 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

1 clinical variant

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

1 publication

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

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09
Provenance

References & sources

8 references

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

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