DGCR5

Chr 22

DiGeorge syndrome critical region gene 5

Also known as: DGCR10, DGCR9, DGS-A, DGS-B, LINC00037, NCRNA00037, POM121L5P, RIP

DGCR5 is a biomarker associated with Huntington's disease, though its specific protein function is not well characterized. Based on the limited information provided, the gene appears to be related to Huntington's disease pathophysiology, but insufficient data is available regarding inheritance patterns or specific disease manifestations caused by mutations in this gene. Additional clinical and functional studies are needed to establish its role in pediatric neurogenetic disorders.

ResearchSummary from RefSeq

Biomarker of Huntington's disease. [provided by Alliance of Genome Resources, Jul 2025]

ResearchGenerating clinical summary…

Clinical Summary— DGCR5

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ClinVar Variants

5 total variants — no pathogenic classifications of 5 total submissions

Explore recent and relevant literature in Research Assistant →

Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD

Constraint data not available from gnomAD.

ClinVar Variant Classifications

5 submitted variants in ClinVar

ClinVar

Classification Summary

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories· variant type breakdown unavailable

Classification	LoF	Missense + Inframe	Non-coding	Synonymous
Pathogenic	—	—	—	—
Likely Pathogenic	—	—	—	—
VUS	—	—	—	—
Likely Benign	—	—	—	—
Benign	—	—	—	—
Total	—

Counts from ClinVar esearch · Updated hourly

View in ClinVar →

192 pathogenic / likely-pathogenic (of 209) ClinVar copy-number / structural variants overlap DGCR5 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →