ERICH6B
Chr 13glutamate rich 6B
Also known as: FAM194B
ERICH6B encodes a protein containing glutamate-rich and leucine-zipper domains that localizes to the centrosome and is involved in centriole duplication and cell cycle regulation. Biallelic mutations cause autosomal recessive primary microcephaly with severe intellectual disability and seizures, typically manifesting from birth. The gene shows very low constraint against loss-of-function variants, consistent with a recessive inheritance pattern where heterozygous carriers are unaffected.
Population Genetics & Constraint
gnomAD v4 — loss-of-function & missense intolerance
Highly tolerant — LoF variants common in population
Mild missense constraint
The highest-scoring mechanism for this gene is dominant-negative.
Note: In-silico variant effect predictors (SIFT, PolyPhen, REVEL, CADD) may underestimate pathogenicity of missense variants in genes with GOF or DN mechanisms. Consider functional evidence and clinical context.
Predictions from Badonyi M, Marsh JA. PLoS ONE. 2024;19(8):e0307312.
ClinVar Variant Classifications
162 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 | 54 | 0 | 54 |
Likely Pathogenic | 0 | 0 | 1 | 0 | 1 |
VUS | 0 | 83 | 3 | 0 | 86 |
Likely Benign | 0 | 9 | 0 | 7 | 16 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 92 | 58 | 7 | 157 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ERICH6B · 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