ANKMY1
Chr 2ankyrin repeat and MYND domain containing 1
Also known as: ZMYND13
ANKMY1 encodes a protein predicted to bind zinc ions, though its specific cellular function remains unclear. Mutations cause autosomal recessive developmental delays and intellectual disability, typically with onset in early childhood. 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
Tolerant to missense variation
ClinVar Variant Classifications
366 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 | 92 | 0 | 92 |
Likely Pathogenic | 0 | 0 | 8 | 0 | 8 |
VUS | 1 | 195 | 11 | 0 | 207 |
Likely Benign | 0 | 19 | 0 | 1 | 20 |
Benign | 0 | 1 | 0 | 3 | 4 |
| Total | 1 | 215 | 111 | 4 | 331 |
LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly
View in ClinVar →Protein Context — Lollipop Plot
ANKMY1 · 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