ANKRD61

Chr 7

ankyrin repeat domain 61

NCBI Gene: 100310846 ENSG00000157999 UniProt: A6NGH8 OMIM: 621326

ANKRD61 encodes a protein that localizes to the nucleoplasm. Mutations cause autosomal recessive intellectual disability with developmental delay and behavioral abnormalities. The condition typically manifests in early childhood with global developmental delays affecting cognitive and motor functions.

OMIM ResearchSummary from RefSeq

Located in nucleoplasm. [provided by Alliance of Genome Resources, Jul 2025]

OMIM ResearchGenerating clinical summary…

LOEUF 1.15

Clinical Summary— ANKRD61

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Population Constraint (gnomAD)

Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.

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ClinVar Variants

1 unique Pathogenic / Likely Pathogenic of 5 total submissions

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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Tolerant — LoF & missense variants common in population

LoF Constraint?

1.15LOEUF

pLI 0.004

Z-score 1.28

OE 0.55 (0.28–1.15)

Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?

1.34Z-score

OE missense 0.75 (0.66–0.85)

172 obs / 229.2 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.55 (0.28–1.15)

0≤0.351.4

Missense OE?0.75 (0.66–0.85)

0≤0.61.4

Synonymous OE?0.79

0≤1.21.6

LoF obs/exp: 5 / 9.2Missense obs/exp: 172 / 229.2Syn Z: 1.63

ClinVar Variant Classifications

5 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic1

Likely Benign2

Pathogenic

Likely Benign

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

Classification	Non-coding	Synonymous	Total
Pathogenic	1	0	1
Likely Pathogenic	0	0	0
VUS	0	0	0
Likely Benign	0	2	2
Benign	0	0	0
Total	1	2	3

LoF = frameshift, stop gained/lost, canonical splice · Counts from ClinVar esearch · Updated hourly

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15 pathogenic / likely-pathogenic (of 18) ClinVar copy-number / structural variants overlap ANKRD61 — these span large chromosomal regions, not the gene specifically, and are excluded from the counts above. Explore in CNV tools →