MYORG

Chr 9

myogenesis regulating glycosidase

Also known as: IBGC7, KIAA1161, NET37

NCBI Gene: 57462ENSG00000164976UniProt: Q6NSJ0

Predicted to enable hydrolase activity, hydrolyzing O-glycosyl compounds. Involved in skeletal muscle fiber development. Predicted to be located in endoplasmic reticulum membrane and nuclear membrane. Implicated in basal ganglia calcification. [provided by Alliance of Genome Resources, Jul 2025]

Primary Disease Associations & Inheritance

UniProtBasal ganglia calcification, idiopathic, 7, autosomal recessive
173
ClinVar variants
77
Pathogenic / LP
0.00
pLI score
0
Active trials
Clinical Summary— MYORG
⚡
Population Constraint (gnomAD)
Low constraint (pLI 0.00) — loss-of-function variants are relatively tolerated in the population.
📋
ClinVar Variants
77 Pathogenic / Likely Pathogenic· 63 VUS of 173 total submissions
Some data sources returned errors (1)

omim: Error: OMIM fetch failed: 429

Population Genetics & Constraint

gnomAD v4 — loss-of-function & missense intolerance

gnomAD
Tolerant — LoF & missense variants common in population
LoF Constraint?LOEUF (Loss-of-function Observed/Expected Upper bound Fraction) is the upper bound of the 90% CI for LoF OE — the preferred gnomAD v4 metric. Lower = more intolerant to LoF. LOEUF < 0.35 = highly constrained.
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?Missense Z-score: standard deviations fewer missense variants observed vs. expected. Z > 3.09 (p < 0.001) = gene does not tolerate missense variation. OE missense < 0.6 is also considered constrained.
1.39Z-score
OE missense 0.83 (0.77–0.90)
436 obs / 525.7 exp
Tolerant

Mild missense constraint

Observed / Expected Ratios?Shaded band = 90% confidence interval. Vertical tick = point estimate. Grey threshold line = gnomAD constraint cutoff for that variant class.
LoF OE?Ratio of observed to expected LoF variants. Upper CI bound (LOEUF) ≤ 0.35 = strong LoF constraint signal.0.90 (0.62–1.34)
0≤0.351.4
Missense OE?Ratio of observed to expected missense variants. OE ≤ 0.6 = fewer missense variants than expected by chance.0.83 (0.77–0.90)
0≤0.61.4
Synonymous OE?Control metric — synonymous variants are largely neutral and expected near OE = 1.0. Significant deviation may indicate annotation issues.1.00
0≤1.21.6
LoF obs/exp: 18 / 19.9Missense obs/exp: 436 / 525.7Syn Z: 0.03

ClinVar Variant Classifications

173 submitted variants in ClinVar

ClinVar

Classification Summary

Pathogenic59
Likely Pathogenic18
VUS63
Likely Benign19
Benign11
Conflicting3
59
Pathogenic
18
Likely Pathogenic
63
VUS
19
Likely Benign
11
Benign
3
Conflicting

Curated Variants Distribution

Classified variants from ClinVar · 5 ACMG categories

ClassificationLoFMissense + InframeNon-codingSynonymousTotal
Pathogenic
1
0
58
0
59
Likely Pathogenic
1
2
15
0
18
VUS
0
52
11
0
63
Likely Benign
1
1
0
17
19
Benign
0
4
4
3
11
Conflicting
—3
Total3598820173

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

View in 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.

OMIM — Genotype-Phenotype

OMIM

No OMIM entries found.

📖
GeneReview available — MYORG
Authoritative clinical overview · NCBI Bookshelf · Recommended first read
Open GeneReview ↗
Clinical Literature
Landmark / reviewRecent case evidence
Key Publications
Landmark & review papers · by relevance
PubMed
Basal ganglia calcification: 'Fahr's disease'.
Magrinelli F et al.·Pract Neurol
2025Review
The clinical and genetic spectrum of primary familial brain calcification.
Carecchio M et al.·J Neurol
2023
The Genetics of Primary Familial Brain Calcification: A Literature Review.
Chen SY et al.·Int J Mol Sci
2023Review
MYORG Mutations: a Major Cause of Recessive Primary Familial Brain Calcification.
Bauer M et al.·Curr Neurol Neurosci Rep
2019Review
Fahr's disease linked to a novel mutation in MYORG variants manifesting as paroxysmal limb stiffness and dysarthria: Case report and literature review.
Zhao T et al.·Mol Genet Genomic Med
2023Review
Brain Calcifications: Genetic, Molecular, and Clinical Aspects.
Monfrini E et al.·Int J Mol Sci
2023Review
Primary familial brain calcifications: genetic and clinical update.
Westenberger A et al.·Curr Opin Neurol
2019Review
MYORG Mutation Heterozygosity Is Associated With Brain Calcification.
Chen Y et al.·Mov Disord
2020
A patient with a MYORG variant in primary brain calcification has rapid clinical course and increased calcification volume on an image analyzer.
Hozumi I et al.·Clin Neurol Neurosurg
2025Case report
White matter disorders with cerebral calcification in adulthood.
Chelban V et al.·Handb Clin Neurol
2024Review
Top 10 resultsSearch PubMed ↗
Recent Gene-Specific Literature
Gene in title · MEDLINE · newest first
Europe PMC
Top 5 resultsSearch Europe PMC ↗

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