MYORG

Chr 9AR

myogenesis regulating glycosidase

Also known as: IBGC7, KIAA1161, NET37

NCBI Gene: 57462ENSG00000164976UniProt: Q6NSJ0OMIM: 618255

Enables alpha-galactosidase activity. Involved in skeletal muscle fiber development. Located in endoplasmic reticulum membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Jun 2026]

GeneReviewsOMIMResearchGenerating clinical summary…

Primary Disease Associations & Inheritance

Basal ganglia calcification, idiopathic, 7, autosomal recessiveMIM #618317
AR
0
Active trials
15
Pubs (1 yr)
—
P/LP submissions
—
P/LP missense
1.34
LOEUF
—
Mechanism
📖
GeneReview available — MYORG
Authoritative clinical overview · Recommended first read
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Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?
1.34LOEUF
pLI 0.000
Z-score 0.40
OE 0.90 (0.62–1.34)
Tolerant

Highly tolerant — LoF variants common in population

Missense Constraint?
1.39Z-score
OE missense 0.83 (0.77–0.90)
436 obs / 525.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?
LoF OE?0.90 (0.62–1.34)
0≤0.351.4
Missense OE?0.83 (0.77–0.90)
0≤0.61.4
Synonymous OE?1.00
0≤1.21.6
LoF obs/exp: 18 / 19.9Missense obs/exp: 436 / 525.7Syn Z: 0.03

ClinVar Variant Classifications

0 submitted variants in ClinVar

ClinVar

Protein Context — Lollipop Plot

MYORG · protein map & ClinVar variants

Showing all ClinVar variants across the protein. Search a specific variant to highlight its position.

Clinical Trials

Active and recruiting trials from ClinicalTrials.gov

ClinicalTrials.gov

No active trials found for this gene.

Search ClinicalTrials.gov →

External Resources

Links to major genomics databases and tools

Franklin by Genoox
AI-powered variant curation and clinical analysis
DECIPHER
Genomic variants and phenotypes in rare disease patients