ELMOD1

Chr 11

ELMO domain containing 1

NCBI Gene: 55531 ENSG00000110675 UniProt: Q8N336 OMIM: 615456

Enables GTPase activator activity. Predicted to be involved in cilium assembly. Predicted to act upstream of or within protein transport. Predicted to be active in Golgi apparatus; cilium; and synapse. [provided by Alliance of Genome Resources, Jun 2026]

OMIM Research

OMIM ResearchGenerating clinical summary…

Clinical highlights

Interpreting a novel variant

This gene is strongly intolerant of loss-of-function variation in the population, so LoF variants warrant close attention. No curated mechanism annotation is available — see the mechanism card for the computational prediction and its caveats.Based on population constraint only.

Active trials

Pubs (1 yr)

—

P/LP submissions

—

P/LP missense

0.42

LOEUF

—

Mechanism

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD

Moderate LoF intolerance

LoF Constraint?

0.42LOEUF

pLI 0.793

Z-score 3.32

OE 0.16 (0.07–0.42)

Moderately constrained

More LoF-intolerant than ~75% of genes

Missense Constraint?

0.98Z-score

OE missense 0.79 (0.69–0.91)

136 obs / 172.3 exp

Tolerant

Mild missense constraint

Observed / Expected Ratios?

LoF OE?0.16 (0.07–0.42)

0≤0.351.4

Missense OE?0.79 (0.69–0.91)

0≤0.61.4

Synonymous OE?0.72

0≤1.21.6

LoF obs/exp: 3 / 18.4Missense obs/exp: 136 / 172.3Syn Z: 1.69

Background carrier burden — how many people carry a rare variant somewhere in ELMOD1?

gnomAD v4 · ~731k individuals · PASS only

Rare means allele frequency under

Rare missense

1 in 150

376 rare PASS variants

Rare truncating (LoF)

1 in 3,900

38 rare PASS variants

Rare synonymous (reference)

1 in 370

128 rare PASS variants

Truncating variants are far rarer here than missense — that gap, in human units, is what constraint means for ELMOD1. A background rate for each class, not the frequency of any particular variant; thin-coverage exons undercount.

By genetic ancestry · 9 gnomAD groups · rare = under 0.1% in that group

Group	People	Missense	Truncating
European (non-Finnish)	~556k	1 in 170	1 in 3,900
South Asian	~43k	1 in 180	1 in 3,900
Remaining (unassigned)	~30k	1 in 130	1 in 3,300
European (Finnish)	~27k	1 in 970	≈ 1 in 27,000
Admixed American	~22k	1 in 190	1 in 750
African / African American	~21k	1 in 180	1 in 1,600
East Asian	~20k	1 in 140	≈ 1 in 6,300
Ashkenazi Jewish	~13k	1 in 1,300	≈ 1 in 3,200
Middle Eastern	~2,884	1 in 210	none seen

Each group is summed over the variants that are rare in that group. Grey ≈ figures rest on fewer than five expected carriers — too few to distinguish groups. Differences mostly reflect how many people were sampled and how much variation each ancestry carries, not disease risk.

Exome coverage (gnomAD): 9 of 11 coding exons well covered in gnomAD exomes; exon 9 poorly covered; exon 5 marginal. Genomes: all 11.? see exons ↓