Genopathy
Gene-Disorder Association · Article
Gene
SEL1L
SEL1L Adaptor Subunit Of SYVN1 Ubiquitin Ligase
Disorder
Neurodevelopmental Disorder With Hypotonia, Poor Growth, Dysmorphic Facies, And Agammaglobulinemia
First reported 2016
Supporting publications 2
Key publication · disorder The Sel1L-Hrd1 Endoplasmic Reticulum-Associated Degradation Complex Manages a Key Checkpoint in B Cell Development.Cell reports · 2016
Manually curated
Association Review

In brief

The association between SEL1L (SEL1L Adaptor Subunit Of SYVN1 Ubiquitin Ligase) and Neurodevelopmental Disorder With Hypotonia, Poor Growth, Dysmorphic Facies, And Agammaglobulinemia 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 1
Symptoms 65
Compounds 0
Trials 0
Publications 2
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
SEL1L

The gene

1 source summary

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

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04
Neurodevelopmental Disorder With Hypotonia, Poor Growth, Dysmorphic Facies, And Agammaglobulinemia

The disorder

5 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

40 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

2 publications

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

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09
Provenance

References & sources

7 references

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

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