ELMOD1

protein-coding

ELMO domain containing 1, the group of ELMO domain containing

Gene summary

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]

MANE transcript

NM_018712.4

Inheritance

ClinVar variants

U:44B:2

Top phenotype

—

gnomAD constraint

pLI —, LoF o/e 0.16

Max pathogenic AF

—

Genomic locus

chr11:107,591,091-107,666,779

External References & Databases

Ensembl (ENSG00000110675)

Transcript & Mutation Effects

hg38 • Region Span ~75.7 kb

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GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

neurodevelopmental disorderLIMITED

Inheritance Pattern: AR

Disease ID:MONDO:0700092

Submitter: PanelApp Australia

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to ELMOD1 variants in ClinVar

2 Conditions Cataloged

not specifiedTotal: 42

not providedTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_018712.4. Only rare variants are included.

We include only reliable ClinVar variants with their consequences to MANE Select, MANE Plus Clinical transcripts, or transcripts with TSL equal to 1. Click a count to filter the variants table below.

Slight differences between displayed counts and ClinVar may occur due to a different transcript/consequence chosen by our variant effect predictor, or because we classify Benign/Likely benign as Likely benign and Pathogenic/Likely pathogenic as Likely pathogenic.

Effect	PathogenicP	Likely pathogenicLP	VUS	Likely benignLB	BenignB	Sum
synonymous				1 clinvar		1
missense			41 clinvar	1 clinvar		42
nonsense						0
start loss						0
frameshift						0
splice donor/acceptor (+/-2bp)			3 clinvar			3
Total	0	0	44	2	0	46

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Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 14 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_018712.4	RefSeq	NP_061182.3	11	MANE Select
ENST00000265840.12	Ensembl	ENSP00000265840.7	11	MANE Select
NM_001130037.2	RefSeq	NP_001123509.1	10	Standard
NM_001308018.2	RefSeq	NP_001294947.1	10	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Biological Process

positive regulation of GTPase activity

Molecular Function

GTPase activator activity

Cellular Component

nucleoplasm
cytosol

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000265840
Coding exons: 11
Length: 75689
Individuals with no LoFs: 124593
Homozygous LoFs: 0
Heterozygous LoFs: 4
Defined: 124597
p: 0.0000161

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	0.984	136	172	0.789	0.00000928	2198
Missense (PolyPhen)		51	78.495	0.64972		957
Synonymous	1.69	44	60.7	0.725	0.00000337	577
Loss of Function	3.32	3	18.4	0.163	8.40e-7	248

Population LoF Frequency

Population	CAF	p-value	Status
African	0.000065	0.000065	rare
Latino/Admixed American	0	0.0	absent
Ashkenazi Jewish	0	0.0	absent
East Asian	0	0.0	absent
Finnish	0	0.0	absent
European (Non-Finnish)	0.000018	0.000018	rare
South Asian	0	0.0	absent
Other	0.00018	0.00017	rare

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Acts as a GTPase-activating protein (GAP) toward guanine nucleotide exchange factors like ARL2, ARL3, ARF1 and ARF6, but not for GTPases outside the Arf family. {ECO:0000269|PubMed:17452337}.;

Recessive Scores

pRec: 0.0962

Intolerance Scores

LoFtool: 0.350
RVIS EVS: -0.47
RVIS percentile EVS: 23.04

Essentials

Essential (CRISPR): N
Essential (CRISPR2): N
Essential (gene trap): N
Indispensability pred.: E
Indispensability score: 0.807

Gene Damage Prediction

	All	Recessive	Dominant
Mendelian	Medium	Medium	Medium
Primary Immunodeficiency	Medium	Medium	Medium
Cancer	Medium	Medium	Medium