Genopathy
Gene-Disorder Association · Article
Gene
SLC35B2
Solute Carrier Family 35 Member B2
Disorder
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia
First reported 2022
Supporting publications 1
Key publication · gene–disorder Biallelic variants in SLC35B2 cause a novel chondrodysplasia with hypomyelinating leukodystrophy.Brain : a journal of neurology · 2022
Key publication · disorder Tumorigenicity and transcriptional modulation of c-myc and N-ras oncogenes in a human hepatoma cell line.Cancer research · 1985
Manually curated
Association Review

In brief

The association between SLC35B2 (Solute Carrier Family 35 Member B2) and Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia is well established and manually curated, with its 2 contributing sources — 2 of them expert-curated — recording a known molecular basis and pathogenic variants.

Sources 2
Clinical variants 3
Symptoms 53
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

2 sources

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

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03
SLC35B2

The gene

1 source summary

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

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04
Leukodystrophy, Hypomyelinating, 26, With Chondrodysplasia

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

29 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

3 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

5 references

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

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