Entry Search - 102610 161650 161800 190990 191030 191041 256030 601443 605355 607701 609273 609284 609285 610687 613727 615340 615348 615731 616112 616165

Search: '102610 161650 161800 190990 191030 191041 256030 601443 605355 607701 609273 609284 609285 610687 613727 615340 615348 615731 616112 616165 (Search in: MIM number)'

Results: 20 entries.

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* 102610. ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
Cytogenetic location: 1q42.13, Genomic coordinates (GRCh38): 1:229,431,245-229,434,094
Matching terms: 102610
► Gene-Phenotype Relationships ► ICD+ ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
1q42.13	?Myopathy, scapulohumeroperoneal	616852	AD	3
	Congenital myopathy 2A, typical, autosomal dominant	161800	AD	3
	Congenital myopathy 2B, severe infantile, autosomal recessive	620265	AR	3
	Congenital myopathy 2C, severe infantile, autosomal dominant	620278	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity MedlinePlus Genetics GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD Locus Specific DBs Laing Laboratory Skeletal … Leiden Muscular Dystrophy … NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cell Lines Coriell	Cellular Pathways KEGG Reactome

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ICD+
SNOMEDCT: 1217226000, 702349003

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* 607701. KELCH-LIKE 41; KLHL41
Cytogenetic location: 2q31.1, Genomic coordinates (GRCh38): 2:169,509,702-169,526,258
Matching terms: 607701
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
2q31.1	Nemaline myopathy 9	615731	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein HPRD Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar DECIPHER gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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# 609273. NEMALINE MYOPATHY 6; NEM6
Cytogenetic location: 15q22.31
Matching terms: 609273
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
15q22.31	Nemaline myopathy 6, autosomal dominant	609273	AD	3	KBTBD13	613727

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Nemaline myopathy - PS161800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
2q23.3	Nemaline myopathy 2, autosomal recessive	AR	3	256030	NEB	161650
2q31.1	Nemaline myopathy 9	AR	3	615731	KLHL41	607701
3p22.1	Nemaline myopathy 8, autosomal recessive	AR	3	615348	KLHL40	615340
3p14.1	Nemaline myopathy 10	AR	3	616165	LMOD3	616112
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
14q13.1	Nemaline myopathy 7, autosomal recessive	AR	3	610687	CFL2	601443
15q22.31	Nemaline myopathy 6, autosomal dominant	AD	3	609273	KBTBD13	613727
19q13.42	Nemaline myopathy 5B, autosomal recessive, childhood-onset	AR	3	620386	TNNT1	191041
19q13.42	Nemaline myopathy 5A, autosomal recessive, severe infantile	AR	3	605355	TNNT1	191041
19q13.42	Nemaline myopathy 5C, autosomal dominant	AD	3	620389	TNNT1	191041

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 171439 DO: 0110935

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# 609284. CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B
Cytogenetic location: 1q21.3
Matching terms: 609284
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
1q21.3	Congenital myopathy 4B, autosomal recessive	609284	AR	3	TPM3	191030

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Nemaline myopathy - PS161800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
2q23.3	Nemaline myopathy 2, autosomal recessive	AR	3	256030	NEB	161650
2q31.1	Nemaline myopathy 9	AR	3	615731	KLHL41	607701
3p22.1	Nemaline myopathy 8, autosomal recessive	AR	3	615348	KLHL40	615340
3p14.1	Nemaline myopathy 10	AR	3	616165	LMOD3	616112
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
14q13.1	Nemaline myopathy 7, autosomal recessive	AR	3	610687	CFL2	601443
15q22.31	Nemaline myopathy 6, autosomal dominant	AD	3	609273	KBTBD13	613727
19q13.42	Nemaline myopathy 5B, autosomal recessive, childhood-onset	AR	3	620386	TNNT1	191041
19q13.42	Nemaline myopathy 5A, autosomal recessive, severe infantile	AR	3	605355	TNNT1	191041
19q13.42	Nemaline myopathy 5C, autosomal dominant	AD	3	620389	TNNT1	191041

Myopathy, congenital (see also nemaline myopathy (PS161800), myofibrillar myopathy (PS601419), and centronuclear myopathy (PS160150) - PS117000 - 33 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.13	Congenital myopathy 19	AR	3	618578	PAX7	167410
1p36.11	Congenital myopathy 3 with rigid spine	AR	3	602771	SELENON	606210
1p31.1	Congenital myopathy 21 with early respiratory failure	AR	3	620326	DNAJB4	611327
1q21.3	Congenital myopathy 4A, autosomal dominant	AD	3	255310	TPM3	191030
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q32.1	Congenital myopathy 18 due to dihydropyridine receptor defect	AD, AR	3	620246	CACNA1S	114208
1q42.13	Congenital myopathy 2C, severe infantile, autosomal dominant	AD	3	620278	ACTA1	102610
1q42.13	Congenital myopathy 2B, severe infantile, autosomal recessive	AR	3	620265	ACTA1	102610
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
1q43	Congenital myopathy 8	AD	3	618654	ACTN2	102573
2q31.2	Congenital myopathy 5 with cardiomyopathy	AR	3	611705	TTN	188840
2q34	Congenital myopathy 14	AR	3	618414	MYL1	160780
3q26.33	Congenital myopathy 9B, proximal, with minicore lesions	AR	3	618823	FXR1	600819
3q26.33	?Congenital myopathy 9A with respiratory insufficiency and bone fractures	AR	3	618822	FXR1	600819
5q23.2	Congenital myopathy 10B, mild variant	AR	3	620249	MEGF10	612453
5q23.2	Congenital myopathy 10A, severe variant	AR	3	614399	MEGF10	612453
8q21.11	Congenital myopathy 25	AR	3	620964	JPH1	605266
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10p12.33	Congenital myopathy 11	AR	3	619967	HACD1	610467
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
11p15.1	Congenital myopathy 17	AR	3	618975	MYOD1	159970
12q12	Congenital myopathy 12	AR	3	612540	CNTN1	600016
12q13.3	Congenital myopathy 13	AR	3	255995	STAC3	615521
12q23.2	Congenital myopathy 16	AD	3	618524	MYBPC1	160794
14q11.2	Congenital myopathy 7B, myosin storage, autosomal recessive	AR	3	255160	MYH7	160760
14q11.2	Congenital myopathy 7A, myosin storage, autosomal dominant	AD	3	608358	MYH7	160760
15q13.3-q14	Congenital myopathy 20	AR	3	620310	RYR3	180903
17p13.1	Congenital myopathy 6 with ophthalmoplegia	AD, AR	3	605637	MYH2	160740
17q23.3	Congenital myopathy 22B, severe fetal	AR	3	620369	SCN4A	603967
17q23.3	Congenital myopathy 22A, classic	AR	3	620351	SCN4A	603967
19q13.2	Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia	AD	3	117000	RYR1	180901
19q13.2	Congenital myopathy 1B, autosomal recessive	AR	3	255320	RYR1	180901
20q13.12	Congenital myopathy 15	AD	3	620161	TNNC2	191039

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Links
Testing GTR EuroGentest Intermediate nemaline myop… Childhood-onset nemaline m… Cap myopathy	Clinical Resources Clinical Trials EuroGentest Intermediate nemaline myop… Childhood-onset nemaline m… Cap myopathy Genetic Alliance GTR OrphaNet Intermediate nemaline myop… Childhood-onset nemaline m… Cap myopathy	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 171433, 171439, 171881 DO: 0110926

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# 609285. CONGENITAL MYOPATHY 23; CMYO23
Cytogenetic location: 9p13.3
Matching terms: 609285
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
9p13.3	Congenital myopathy 23	609285	AD	3	TPM2	190990

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Nemaline myopathy - PS161800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
2q23.3	Nemaline myopathy 2, autosomal recessive	AR	3	256030	NEB	161650
2q31.1	Nemaline myopathy 9	AR	3	615731	KLHL41	607701
3p22.1	Nemaline myopathy 8, autosomal recessive	AR	3	615348	KLHL40	615340
3p14.1	Nemaline myopathy 10	AR	3	616165	LMOD3	616112
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
14q13.1	Nemaline myopathy 7, autosomal recessive	AR	3	610687	CFL2	601443
15q22.31	Nemaline myopathy 6, autosomal dominant	AD	3	609273	KBTBD13	613727
19q13.42	Nemaline myopathy 5B, autosomal recessive, childhood-onset	AR	3	620386	TNNT1	191041
19q13.42	Nemaline myopathy 5A, autosomal recessive, severe infantile	AR	3	605355	TNNT1	191041
19q13.42	Nemaline myopathy 5C, autosomal dominant	AD	3	620389	TNNT1	191041

Myopathy, congenital (see also nemaline myopathy (PS161800), myofibrillar myopathy (PS601419), and centronuclear myopathy (PS160150) - PS117000 - 33 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1p36.13	Congenital myopathy 19	AR	3	618578	PAX7	167410
1p36.11	Congenital myopathy 3 with rigid spine	AR	3	602771	SELENON	606210
1p31.1	Congenital myopathy 21 with early respiratory failure	AR	3	620326	DNAJB4	611327
1q21.3	Congenital myopathy 4A, autosomal dominant	AD	3	255310	TPM3	191030
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q32.1	Congenital myopathy 18 due to dihydropyridine receptor defect	AD, AR	3	620246	CACNA1S	114208
1q42.13	Congenital myopathy 2C, severe infantile, autosomal dominant	AD	3	620278	ACTA1	102610
1q42.13	Congenital myopathy 2B, severe infantile, autosomal recessive	AR	3	620265	ACTA1	102610
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
1q43	Congenital myopathy 8	AD	3	618654	ACTN2	102573
2q31.2	Congenital myopathy 5 with cardiomyopathy	AR	3	611705	TTN	188840
2q34	Congenital myopathy 14	AR	3	618414	MYL1	160780
3q26.33	Congenital myopathy 9B, proximal, with minicore lesions	AR	3	618823	FXR1	600819
3q26.33	?Congenital myopathy 9A with respiratory insufficiency and bone fractures	AR	3	618822	FXR1	600819
5q23.2	Congenital myopathy 10B, mild variant	AR	3	620249	MEGF10	612453
5q23.2	Congenital myopathy 10A, severe variant	AR	3	614399	MEGF10	612453
8q21.11	Congenital myopathy 25	AR	3	620964	JPH1	605266
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10p12.33	Congenital myopathy 11	AR	3	619967	HACD1	610467
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
11p15.1	Congenital myopathy 17	AR	3	618975	MYOD1	159970
12q12	Congenital myopathy 12	AR	3	612540	CNTN1	600016
12q13.3	Congenital myopathy 13	AR	3	255995	STAC3	615521
12q23.2	Congenital myopathy 16	AD	3	618524	MYBPC1	160794
14q11.2	Congenital myopathy 7B, myosin storage, autosomal recessive	AR	3	255160	MYH7	160760
14q11.2	Congenital myopathy 7A, myosin storage, autosomal dominant	AD	3	608358	MYH7	160760
15q13.3-q14	Congenital myopathy 20	AR	3	620310	RYR3	180903
17p13.1	Congenital myopathy 6 with ophthalmoplegia	AD, AR	3	605637	MYH2	160740
17q23.3	Congenital myopathy 22B, severe fetal	AR	3	620369	SCN4A	603967
17q23.3	Congenital myopathy 22A, classic	AR	3	620351	SCN4A	603967
19q13.2	Congenital myopathy 1A, autosomal dominant, with susceptibility to malignant hyperthermia	AD	3	117000	RYR1	180901
19q13.2	Congenital myopathy 1B, autosomal recessive	AR	3	255320	RYR1	180901
20q13.12	Congenital myopathy 15	AD	3	620161	TNNC2	191039

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Links
Testing GTR EuroGentest Typical nemaline myopathy Childhood-onset nemaline m… Cap myopathy	Clinical Resources Clinical Trials EuroGentest Typical nemaline myopathy Childhood-onset nemaline m… Cap myopathy Genetic Alliance MedlinePlus Genetics GTR OrphaNet Typical nemaline myopathy Childhood-onset nemaline m… Cap myopathy	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 171436, 171439, 171881 DO: 0110932

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# 610687. NEMALINE MYOPATHY 7; NEM7
Cytogenetic location: 14q13.1
Matching terms: 610687
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
14q13.1	Nemaline myopathy 7, autosomal recessive	610687	AR	3	CFL2	601443

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Nemaline myopathy - PS161800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
2q23.3	Nemaline myopathy 2, autosomal recessive	AR	3	256030	NEB	161650
2q31.1	Nemaline myopathy 9	AR	3	615731	KLHL41	607701
3p22.1	Nemaline myopathy 8, autosomal recessive	AR	3	615348	KLHL40	615340
3p14.1	Nemaline myopathy 10	AR	3	616165	LMOD3	616112
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
14q13.1	Nemaline myopathy 7, autosomal recessive	AR	3	610687	CFL2	601443
15q22.31	Nemaline myopathy 6, autosomal dominant	AD	3	609273	KBTBD13	613727
19q13.42	Nemaline myopathy 5B, autosomal recessive, childhood-onset	AR	3	620386	TNNT1	191041
19q13.42	Nemaline myopathy 5A, autosomal recessive, severe infantile	AR	3	605355	TNNT1	191041
19q13.42	Nemaline myopathy 5C, autosomal dominant	AD	3	620389	TNNT1	191041

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Links
Testing GTR EuroGentest	Clinical Resources Clinical Trials EuroGentest Genetic Alliance GTR OrphaNet	Animal Models Alliance Genome MGI Mouse Phenotype Wormbase Disease Ontology

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ICD+
ORPHA: 171436 DO: 0110934

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* 613727. KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 13; KBTBD13
Cytogenetic location: 15q22.31, Genomic coordinates (GRCh38): 15:65,076,746-65,079,948
Matching terms: 613727
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
15q22.31	Nemaline myopathy 6, autosomal dominant	609273	AD	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Catalog GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB ZFin	Cellular Pathways Reactome

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# 615731. NEMALINE MYOPATHY 9; NEM9
Cytogenetic location: 2q31.1
Matching terms: 615731
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
2q31.1	Nemaline myopathy 9	615731	AR	3	KLHL41	607701

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Nemaline myopathy - PS161800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
2q23.3	Nemaline myopathy 2, autosomal recessive	AR	3	256030	NEB	161650
2q31.1	Nemaline myopathy 9	AR	3	615731	KLHL41	607701
3p22.1	Nemaline myopathy 8, autosomal recessive	AR	3	615348	KLHL40	615340
3p14.1	Nemaline myopathy 10	AR	3	616165	LMOD3	616112
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
14q13.1	Nemaline myopathy 7, autosomal recessive	AR	3	610687	CFL2	601443
15q22.31	Nemaline myopathy 6, autosomal dominant	AD	3	609273	KBTBD13	613727
19q13.42	Nemaline myopathy 5B, autosomal recessive, childhood-onset	AR	3	620386	TNNT1	191041
19q13.42	Nemaline myopathy 5A, autosomal recessive, severe infantile	AR	3	605355	TNNT1	191041
19q13.42	Nemaline myopathy 5C, autosomal dominant	AD	3	620389	TNNT1	191041

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Links
Testing GTR EuroGentest Severe congenital nemaline… Intermediate nemaline myop… Typical nemaline myopathy Childhood-onset nemaline m…	Clinical Resources Clinical Trials EuroGentest Severe congenital nemaline… Intermediate nemaline myop… Typical nemaline myopathy Childhood-onset nemaline m… GTR OrphaNet Severe congenital nemaline… Intermediate nemaline myop… Typical nemaline myopathy Childhood-onset nemaline m…	Animal Models Alliance Genome MGI Mouse Phenotype

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ICD+
ORPHA: 171430, 171433, 171436, 171439 DO: 0110929

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* 616112. LEIOMODIN 3; LMOD3
Cytogenetic location: 3p14.1, Genomic coordinates (GRCh38): 3:69,106,065-69,122,595
Matching terms: 616112
► Gene-Phenotype Relationships ► Links

Gene-Phenotype Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key
3p14.1	Nemaline myopathy 10	616165	AR	3

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Links
Testing GTR	Genome Ensembl NCBI Genome Viewer UCSC Genome Browser	DNA Ensembl (MANE Select) NCBI RefSeq NCBI RefSeq (MANE Select) UCSC Genome Browser	Protein Human Protein Atlas NCBI Protein UniProt	Gene Info BioGPS Ensembl GeneCards Gene Ontology KEGG MARRVEL Monarch NCBI Gene UCSC	Clinical Resources ClinGen Validity GTR	Variation ClinVar gnomAD GWAS Central HGMD NHLBI EVS PharmGKB	Animal Models Alliance Genome FlyBase IMPC MARRVEL MGI Mouse Gene MMRRC NCBI Orthologs OrthoDB Wormbase Gene Wormbase Gene ZFin	Cellular Pathways KEGG Reactome

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10:

# 616165. NEMALINE MYOPATHY 10; NEM10
Cytogenetic location: 3p14.1
Matching terms: 616165
► Phenotype-Gene Relationships ► Phenotypic Series ► ICD+ ► Links

Phenotype-Gene Relationships
Location	Phenotype	Phenotype MIM number	Inheritance	Phenotype mapping key	Gene/Locus	Gene/Locus MIM number
3p14.1	Nemaline myopathy 10	616165	AR	3	LMOD3	616112

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Nemaline myopathy - PS161800 - 13 Entries

Location	Phenotype	Inheritance	Phenotype mapping key	Phenotype MIM number	Gene/Locus	Gene/Locus MIM number
1q21.3	Congenital myopathy 4B, autosomal recessive	AR	3	609284	TPM3	191030
1q42.13	Congenital myopathy 2A, typical, autosomal dominant	AD	3	161800	ACTA1	102610
2q23.3	Nemaline myopathy 2, autosomal recessive	AR	3	256030	NEB	161650
2q31.1	Nemaline myopathy 9	AR	3	615731	KLHL41	607701
3p22.1	Nemaline myopathy 8, autosomal recessive	AR	3	615348	KLHL40	615340
3p14.1	Nemaline myopathy 10	AR	3	616165	LMOD3	616112
9p13.3	Congenital myopathy 23	AD	3	609285	TPM2	190990
10q21.3	Congenital myopathy 24	AR	3	617336	MYPN	608517
14q13.1	Nemaline myopathy 7, autosomal recessive	AR	3	610687	CFL2	601443
15q22.31	Nemaline myopathy 6, autosomal dominant	AD	3	609273	KBTBD13	613727
19q13.42	Nemaline myopathy 5B, autosomal recessive, childhood-onset	AR	3	620386	TNNT1	191041
19q13.42	Nemaline myopathy 5A, autosomal recessive, severe infantile	AR	3	605355	TNNT1	191041
19q13.42	Nemaline myopathy 5C, autosomal dominant	AD	3	620389	TNNT1	191041

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ICD+
ORPHA: 171430, 171436 DO: 0110931

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Search: 102610 161650 161800 190990 191030 191041 256030 601443 605355 607701 609273 609284 609285 610687 613727 615340 615348 615731 616112 616165 (Search in: MIM number)

Results: 20 entries.

* 102610. ACTIN, ALPHA-1, SKELETAL MUSCLE; ACTA1
Cytogenetic location: 1q42.13, Genomic coordinates (GRCh38): 1:229,431,245-229,434,094
Matching terms: 102610

* 607701. KELCH-LIKE 41; KLHL41
Cytogenetic location: 2q31.1, Genomic coordinates (GRCh38): 2:169,509,702-169,526,258
Matching terms: 607701

# 609273. NEMALINE MYOPATHY 6; NEM6
Cytogenetic location: 15q22.31
Matching terms: 609273

# 609284. CONGENITAL MYOPATHY 4B, AUTOSOMAL RECESSIVE; CMYO4B
Cytogenetic location: 1q21.3
Matching terms: 609284

# 609285. CONGENITAL MYOPATHY 23; CMYO23
Cytogenetic location: 9p13.3
Matching terms: 609285

# 610687. NEMALINE MYOPATHY 7; NEM7
Cytogenetic location: 14q13.1
Matching terms: 610687

* 613727. KELCH REPEAT- AND BTB/POZ DOMAIN-CONTAINING PROTEIN 13; KBTBD13
Cytogenetic location: 15q22.31, Genomic coordinates (GRCh38): 15:65,076,746-65,079,948
Matching terms: 613727

# 615731. NEMALINE MYOPATHY 9; NEM9
Cytogenetic location: 2q31.1
Matching terms: 615731

* 616112. LEIOMODIN 3; LMOD3
Cytogenetic location: 3p14.1, Genomic coordinates (GRCh38): 3:69,106,065-69,122,595
Matching terms: 616112

10:

# 616165. NEMALINE MYOPATHY 10; NEM10
Cytogenetic location: 3p14.1
Matching terms: 616165

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Printed: March 15, 2025