ERICH1
Chr 8glutamate rich 1
Also known as: HSPC319
The protein localizes to the endoplasmic reticulum and functions as a transmembrane protein involved in cellular processes, though its specific molecular role remains incompletely characterized. Mutations cause autosomal recessive intellectual disability with seizures and microcephaly, typically presenting in early childhood. The gene shows tolerance to loss-of-function variants (very low pLI score), consistent with the recessive inheritance pattern observed in affected families.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Tolerant to missense variation
ClinVar Variant Classifications
291 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 | 121 | 0 | 121 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 108 | 26 | 0 | 134 |
Likely Benign | 0 | 7 | 7 | 0 | 14 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 115 | 161 | 0 | 276 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ERICH1 · 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 →No open access results found
External Resources
Links to major genomics databases and tools