Genopathy
Gene-Disorder Association · Article
Gene
LOC126805944
CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr1:182354799-182355998
Disorder
Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency
First reported 1975
Key publication · disorder Regulation of synthesis of glutamine synthetase by adenylylated glutamine synthetase.Proceedings of the National Academy of Sciences of the United States of America · 1975
Association Review

In brief

The association between LOC126805944 (CDK7 Strongly-Dependent Group 2 Enhancer GRCh37_chr1:182354799-182355998) and Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency is supported by expert-curated evidence, drawing on a single expert-curated source, which records pathogenic variants.

Sources 1
Clinical variants 21
Symptoms 2
Compounds 0
Trials 0
Publications 0
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

1 source

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

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03
LOC126805944

The gene

1 source summary

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

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04
Congenital Brain Dysgenesis Due To Glutamine Synthetase Deficiency

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
ClinVar and variant evidence

Genetic basis

21 clinical variants

ClinVar variants reported for this pair, with disorder-specific significance, review status, molecular consequence and origin.

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06
Provenance

References & sources

4 references

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

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