Genopathy
Gene-Disorder Association · Article
Gene
ITM2B
Integral Membrane Protein 2B
Disorder
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities
First reported 2014
Supporting publications 1
Key publication · gene–disorder The familial dementia gene revisited: a missense mutation revealed by whole-exome sequencing identifies ITM2B as a candidate gene underlying a novel autosomal dominant retinal dystrophy in a large family.Human molecular genetics · 2014
Key publication · disorder Time course of auditory impairment in mice lacking the electroneutral sodium bicarbonate cotransporter NBC3 (slc4a7).Brain research. Developmental brain research · 2005
Manually curated
Association Review

In brief

The association between ITM2B (Integral Membrane Protein 2B) and Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities is well established and manually curated, with its 3 contributing sources — 3 of them expert-curated — recording a known molecular basis, pathogenic variants, and causative variation.

Sources 3
Clinical variants 2
Symptoms 15
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

3 sources

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

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03
ITM2B

The gene

1 source summary

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

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04
Retinal Dystrophy With Inner Retinal Dysfunction And Ganglion Cell Abnormalities

The disorder

6 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

6 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

2 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

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

6 references

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

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