MYORG

protein-coding

myogenesis regulating glycosidase (putative), the group of Glycoside hydrolase family 31

Gene summary

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]

Previous symbols:

KIAA1161

MANE transcript

NM_020702.5

Inheritance

AR, AD, SD

ClinVar variants

P:43U:186B:62

Top phenotype

Basal ganglia calcification, idiopathic, 7, autosomal recessive

gnomAD constraint

pLI —, LoF o/e 0.9

Max pathogenic AF

—

Genomic locus

chr9:34,366,666-34,376,898

External References & Databases

Ensembl (ENSG00000164976)

Transcript & Mutation Effects

hg38 • Region Span ~10.2 kb

Loading mutation effect viewer...

GenCC Phenotypes & Disease Associations

Curated gene-disease validity assertions and inheritance patterns

basal ganglia calcification, idiopathic, 7, autosomal recessiveSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0032673

Submitter: Genomics England PanelApp

bilateral striopallidodentate calcinosisSUPPORTIVE

Inheritance Pattern: AD

Disease ID:MONDO:0008947

Submitter: Orphanet

basal ganglia calcification, idiopathic, 7, autosomal recessiveSTRONG

Inheritance Pattern: SD

Disease ID:MONDO:0032673

Submitter: PanelApp Australia

basal ganglia calcification, idiopathic, 7, autosomal recessiveSTRONG

Inheritance Pattern: AR

Disease ID:MONDO:0032673

Submitter: Labcorp Genetics (formerly Invitae)

basal ganglia calcification, idiopathic, 7, autosomal recessiveDEFINITIVE

Inheritance Pattern: AR

Disease ID:MONDO:0032673

Submitter: Illumina

Clinical Genomic Database (CGD)

Basal ganglia calcification, idiopathic, 7, autosomal recessiveAR

Manifestation: Neurologic

Intervention: General

Rationale: Genetic knowledge may be beneficial related to issues such as selection of optimal supportive care, informed medical decision-making, prognostic considerations, and avoidance of unnecessary testing

Refs: 29910000; 30460687; 30656188; 30649222

Source: CGD (NHGRI)

ClinVar Associated Diseases & Phenotypes

Reported disease conditions connected to MYORG variants in ClinVar

11 Conditions Cataloged

not providedTotal: 151

not specifiedTotal: 116

Basal ganglia calcification, idiopathic, 7, autosomal recessiveTotal: 47

MYORG-related disorderTotal: 21

Inborn genetic diseasesTotal: 2

Basal ganglia calcificationTotal: 1

KIAA1161 & MYORG-related disordersTotal: 1

KIAA1161-related disordersTotal: 1

ClinVar Variants & Pathogenicity by Type

Statistics based on transcript NM_020702.5. 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	53 clinvar	4 clinvar	58
missense		7 clinvar	183 clinvar	4 clinvar		194
nonsense	4 clinvar	12 clinvar				16
start loss						0
frameshift	7 clinvar	13 clinvar	2 clinvar	1 clinvar		23
splice donor/acceptor (+/-2bp)						0
Total	11	32	186	58	4	291

Highest pathogenic variant AF is 0.00019541864

Loading ClinVar variants...

Transcript Catalog

Annotated transcript isoforms across RefSeq and Ensembl databases

Showing 4 of 22 transcripts

Transcript ID	Source	Protein ID	Coding Exons	MANE Status
NM_020702.5	RefSeq	NP_065753.2	1	MANE Select
ENST00000297625.8	Ensembl	ENSP00000297625.8	1	MANE Select
ENST00000379142.3	Ensembl	ENSP00000368437.2	2	Standard
ENST00000896633.1	Ensembl	ENSP00000566692.1	1	Standard

Gene Ontology (GO) Annotations & Pathways

Biological processes, molecular functions, cellular components and pathways

Pathways ConsensusPathDB

Ectoderm Differentiation

Biological Process

carbohydrate metabolic process
glycoside catabolic process
positive regulation of insulin-like growth factor receptor signaling pathway
skeletal muscle fiber development
positive regulation of protein kinase B signaling

Molecular Function

hydrolase activity, hydrolyzing O-glycosyl compounds

Cellular Component

endoplasmic reticulum membrane
integral component of membrane
nuclear membrane

gnomAD Constraint

Source: gnomAD

Gene type: protein_coding
Transcript type: protein_coding
Transcript: ENST00000297625
Coding exons: 1
Length: 10184
Individuals with no LoFs: 124930
Homozygous LoFs: 0
Heterozygous LoFs: 44
Defined: 124974
p: 0.000176

	Z-Score	Observed	Expected	Observed/Expected	Mutation Rate	Total Possible
Missense	1.39	436	526	0.829	0.0000427	4294
Missense (PolyPhen)		213	245.13	0.86893		2150
Synonymous	0.0280	248	249	0.998	0.0000220	1442
Loss of Function	0.399	18	19.9	0.904	0.00000103	191

Population LoF Frequency

Population	CAF	p-value	Status
African	0.00033	0.00031	rare
Latino/Admixed American	0.00012	0.00012	rare
Ashkenazi Jewish	0.00010	0.000099	rare
East Asian	0.00022	0.00022	rare
Finnish	0	0.0	absent
European (Non-Finnish)	0.00028	0.00027	rare
South Asian	0	0.0	absent
Other	0	0.0	absent

dbNSFP Gene Annotations

Source: dbNSFP

Function: FUNCTION: Putative glycosidase. Promotes myogenesis by activating AKT signaling through the maturation and secretion of IGF2. {ECO:0000250|UniProtKB:Q69ZQ1}.;