NELFA
Chr 4negative elongation factor complex member A
Also known as: NELF-A, P/OKcl.15, WHSC2
NELFA encodes an essential component of the NELF complex that negatively regulates RNA polymerase II transcription elongation. Mutations cause Wolf-Hirschhorn syndrome, a malformation syndrome that follows an autosomal dominant inheritance pattern due to hemizygous deletions of chromosome 4p16.3. The gene is highly constrained against loss-of-function variants (LOEUF 0.514), consistent with its essential role in transcriptional regulation.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
More LoF-intolerant than ~75% of genes
Mild missense constraint
ClinVar Variant Classifications
287 submitted variants in ClinVar
Classification Summary
Curated Variants Distribution
Classified variants from ClinVar · 5 ACMG categories
| Classification | LoF | Missense + Inframe | Non-coding | Synonymous | Total |
|---|---|---|---|---|---|
Pathogenic | 0 | 0 | 136 | 0 | 136 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 65 | 20 | 0 | 85 |
Likely Benign | 0 | 5 | 6 | 28 | 39 |
Benign | 0 | 3 | 2 | 5 | 10 |
| Total | 0 | 73 | 171 | 33 | 277 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
NELFA · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
External Resources
Links to major genomics databases and tools
Clinical Trials
Active and recruiting trials from ClinicalTrials.gov
No active trials found for this gene.
Search ClinicalTrials.gov →External Resources
Links to major genomics databases and tools