FAM124A
Chr 13family with sequence similarity 124 member A
This gene encodes a protein that functions in cellular stress response and protein quality control pathways. Mutations cause autosomal recessive developmental and epileptic encephalopathy with severe intellectual disability, seizures, and movement disorders typically presenting in infancy. The gene shows low constraint against loss-of-function variants, consistent with the recessive inheritance pattern observed in affected individuals.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
ClinVar Variant Classifications
168 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 | 57 | 0 | 57 |
Likely Pathogenic | 0 | 0 | 2 | 0 | 2 |
VUS | 0 | 88 | 7 | 0 | 95 |
Likely Benign | 0 | 4 | 1 | 0 | 5 |
Benign | 0 | 1 | 1 | 2 | 4 |
| Total | 0 | 93 | 68 | 2 | 163 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
FAM124A · protein map & ClinVar variants
Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.
3D Protein StructureAlphaFold
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 →No open access results found
External Resources
Links to major genomics databases and tools