ANKRD65
Chr 1ankyrin repeat domain 65
This gene encodes an ankyrin repeat domain-containing protein involved in protein-protein interactions and cellular signaling pathways. Mutations cause autosomal recessive neurodevelopmental disorder with seizures, microcephaly, and intellectual disability. 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
The highest-scoring mechanism for this gene is gain-of-function.
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
265 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 | 122 | 0 | 122 |
Likely Pathogenic | 0 | 0 | 7 | 0 | 7 |
VUS | 0 | 96 | 26 | 0 | 122 |
Likely Benign | 0 | 8 | 1 | 3 | 12 |
Benign | 0 | 0 | 0 | 0 | 0 |
| Total | 0 | 104 | 156 | 3 | 263 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ANKRD65 · 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