Genopathy
Gene-Disorder Association · Article
Gene
B3GALT6
Beta-1,3-Galactosyltransferase 6
Disorder
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2
First reported 2018
Supporting publications 13
Key publication · gene–disorder A B3GALT6 variant in patient originally described as Al-Gazali syndrome and implicating the endoplasmic reticulum quality control in the mechanism of some β3GalT6-pathy mutations.Clinical genetics · 2018
Key publication · disorder [Dwarfism and hyperlaxity, facial dysmorphism and multiple dislocations. Larsen's syndrome?].Archives francaises de pediatrie · 1975
Manually curated
Association Review

In brief

The association between B3GALT6 (Beta-1,3-Galactosyltransferase 6) and Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2 is well established and manually curated, with its 5 contributing sources — 4 of them expert-curated — recording a known molecular basis, pathogenic and likely-pathogenic variants, and a causative germline mutation.

Sources 5
Clinical variants 277
Symptoms 130
Compounds 0
Trials 0
Publications 13
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

5 sources

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

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03
B3GALT6

The gene

1 source summary

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

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04
Ehlers-Danlos Syndrome, Spondylodysplastic Type, 2

The disorder

13 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

109 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

277 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

13 publications

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

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09
Provenance

References & sources

16 references

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

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