NEM10
MCID: NML022
MIFTS: 36

Nemaline Myopathy 10 (NEM10)

Categories: Bone diseases, Fetal diseases, Genetic diseases, Muscle diseases, Neuronal diseases, Rare diseases

Aliases & Classifications for Nemaline Myopathy 10

MalaCards integrated aliases for Nemaline Myopathy 10:

Name: Nemaline Myopathy 10 56 12 73 29 6 15 71
Nem10 56 12 73
Myopathy, Nemaline, Type 10 39

Characteristics:

OMIM:

56
Inheritance:
autosomal recessive

Miscellaneous:
prenatal or neonatal onset
death usually in infancy due to respiratory failure


HPO:

31
nemaline myopathy 10:
Inheritance autosomal recessive inheritance


Classifications:



External Ids:

Disease Ontology 12 DOID:0110931
OMIM 56 616165
OMIM Phenotypic Series 56 PS161800
MeSH 43 D017696
UMLS 71 C4015360

Summaries for Nemaline Myopathy 10

UniProtKB/Swiss-Prot : 73 Nemaline myopathy 10: An autosomal recessive severe form of nemaline myopathy. Nemaline myopathies are muscular disorders characterized by muscle weakness of varying severity and onset, and abnormal thread-like or rod-shaped structures in muscle fibers on histologic examination. NEM10 is characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Additional features include arthrogryposis or congenital contractures, ophthalmoplegia, a history of prematurity, reduced fetal movements, and polyhydramnios. Most patients die of respiratory failure in early infancy.

MalaCards based summary : Nemaline Myopathy 10, also known as nem10, is related to nemaline myopathy and myopathy, and has symptoms including generalized muscle weakness, ophthalmoplegia and facial paresis. An important gene associated with Nemaline Myopathy 10 is LMOD3 (Leiomodin 3). Affiliated tissues include skeletal muscle, and related phenotypes are respiratory insufficiency due to muscle weakness and generalized muscle weakness

Disease Ontology : 12 A nemaline myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties that has material basis in homozygous or compound heterozygous mutation in the LMOD3 gene on chromosome 3p14.

OMIM : 56 Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterized by early-onset generalized muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Many patients present antenatally with decreased fetal movements, and most die of respiratory failure in early infancy (summary by Yuen et al., 2014). Patients with a stable and much milder disease course have been described (Schatz et al., 2018). For a discussion of genetic heterogeneity of nemaline myopathy, see NEM3 (161800). (616165)

Related Diseases for Nemaline Myopathy 10

Diseases in the Nemaline Myopathy family:

Nemaline Myopathy 3 Nemaline Myopathy 2
Nemaline Myopathy 5 Nemaline Myopathy 6
Nemaline Myopathy 1 Nemaline Myopathy 4
Nemaline Myopathy 7 Nemaline Myopathy 8
Nemaline Myopathy 9 Nemaline Myopathy 10
Nemaline Myopathy 11, Autosomal Recessive Adult-Onset Nemaline Myopathy
Intermediate Congenital Nemaline Myopathy Severe Congenital Nemaline Myopathy
Congenital Nemaline Myopathy

Diseases related to Nemaline Myopathy 10 via text searches within MalaCards or GeneCards Suite gene sharing:

(showing 21, show less)
# Related Disease Score Top Affiliating Genes
1 nemaline myopathy 29.9 KLHL41 CFL2
2 myopathy 28.1 MYPN LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
3 congenital nemaline myopathy 10.1
4 central core myopathy 9.9 KLHL40 KBTBD13
5 myopathy, spheroid body 9.9 MYPN LMOD3
6 nemaline myopathy 4 9.9 LMOD3 KLHL41 KBTBD13
7 severe congenital nemaline myopathy 9.8 LMOD3 KLHL41 KLHL40
8 multiple pterygium syndrome, escobar variant 9.8 LMOD3 KLHL41 KLHL40
9 nemaline myopathy 7 9.7 KBTBD13 CFL2
10 childhood-onset nemaline myopathy 9.7 MYPN KLHL41 KBTBD13
11 centronuclear myopathy 9.7 KLHL40 KBTBD13
12 reducing body myopathy 1a 9.6 KLHL40 CFL2
13 typical congenital nemaline myopathy 9.5 LMOD3 KLHL41 CFL2
14 respiratory failure 9.5 MYPN LMOD3 KLHL40
15 nemaline myopathy 3 9.2 MYPN LMOD3 KLHL41 KLHL40 KBTBD13
16 nemaline myopathy 8 9.1 LMOD3 KLHL9 KLHL40 KBTBD13 DNPEP
17 congenital fiber-type disproportion 9.0 LMOD3 KLHL41 KLHL40 KBTBD13 CFL2
18 nemaline myopathy 2 8.9 MYPN LMOD3 KLHL41 KBTBD13 CFL2
19 nemaline myopathy 9 8.8 LMOD3 KLHL9 KLHL41 KLHL40 KBTBD13 DNPEP
20 nemaline myopathy 11, autosomal recessive 8.8 MYPN LMOD3 KLHL9 KBTBD13 DNPEP ALG11
21 congenital structural myopathy 8.6 MYPN LMOD3 KLHL41 KLHL40 KBTBD13 CFL2

Graphical network of the top 20 diseases related to Nemaline Myopathy 10:



Diseases related to Nemaline Myopathy 10

Symptoms & Phenotypes for Nemaline Myopathy 10

Human phenotypes related to Nemaline Myopathy 10:

31 (showing 12, show less)
# Description HPO Frequency HPO Source Accession
1 respiratory insufficiency due to muscle weakness 31 HP:0002747
2 generalized muscle weakness 31 HP:0003324
3 skeletal muscle atrophy 31 HP:0003202
4 ophthalmoplegia 31 HP:0000602
5 polyhydramnios 31 HP:0001561
6 facial palsy 31 HP:0010628
7 decreased fetal movement 31 HP:0001558
8 arthrogryposis multiplex congenita 31 HP:0002804
9 premature birth 31 HP:0001622
10 severe muscular hypotonia 31 HP:0006829
11 generalized hypotonia 31 HP:0001290
12 bulbar palsy 31 HP:0001283

Symptoms via clinical synopsis from OMIM:

56
Respiratory:
respiratory insufficiency due to muscle weakness
respiratory failure due to muscle weakness

Prenatal Manifestations Amniotic Fluid:
polyhydramnios

Prenatal Manifestations Delivery:
premature delivery

Head And Neck Face:
facial weakness

Abdomen Gastrointestinal:
feeding difficulties due to muscle weakness

Head And Neck Eyes:
ophthalmoplegia

Muscle Soft Tissue:
muscle atrophy
muscle weakness, generalized
bulbar muscle weakness
hypotonia, severe, neonatal
replacement of myofibers with connective tissue
more
Skeletal:
contractures
arthrogryposis

Prenatal Manifestations Movement:
decreased fetal movements
absent fetal movements

Clinical features from OMIM:

616165

UMLS symptoms related to Nemaline Myopathy 10:


generalized muscle weakness, ophthalmoplegia, facial paresis

MGI Mouse Phenotypes related to Nemaline Myopathy 10:

45 (showing 1, show less)
# Description MGI Source Accession Score Top Affiliating Genes
1 muscle MP:0005369 9.02 CFL2 KLHL40 KLHL41 LMOD3 MYPN

Drugs & Therapeutics for Nemaline Myopathy 10

Search Clinical Trials , NIH Clinical Center for Nemaline Myopathy 10

Genetic Tests for Nemaline Myopathy 10

Genetic tests related to Nemaline Myopathy 10:

# Genetic test Affiliating Genes
1 Nemaline Myopathy 10 29 LMOD3

Anatomical Context for Nemaline Myopathy 10

MalaCards organs/tissues related to Nemaline Myopathy 10:

40
Skeletal Muscle

Publications for Nemaline Myopathy 10

Articles related to Nemaline Myopathy 10:

(showing 4, show less)
# Title Authors PMID Year
1
Evidence of mild founder LMOD3 mutations causing nemaline myopathy 10 in Germany and Austria. 56 6 61
30291184 2018
2
Neonatal fractures as a presenting feature of LMOD3-associated congenital myopathy. 56 6
28815944 2017
3
Leiomodin-3 dysfunction results in thin filament disorganization and nemaline myopathy. 6 56
25250574 2014
4
Nemaline Myopathy – ARCHIVED CHAPTER, FOR HISTORICAL REFERENCE ONLY 6
20301465 2002

Variations for Nemaline Myopathy 10

ClinVar genetic disease variations for Nemaline Myopathy 10:

6 (showing 117, show less) ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎ ‎‎
# Gene Name Type Significance ClinVarId dbSNP ID GRCh37 Pos GRCh38 Pos
1 LMOD3 NC_000003.11:g.(?_69158226)_(69171557_?)deldeletion Pathogenic 475292 3:69158226-69171557
2 LMOD3 NM_198271.4(LMOD3):c.476del (p.Gly159fs)deletion Pathogenic 475328 rs1426709672 3:69169030-69169030 3:69119879-69119879
3 LMOD3 NM_001304418.2(LMOD3):c.357_361AAAAG[1] (p.Glu121fs)short repeat Pathogenic 475319 rs1274699363 3:69169140-69169144 3:69119989-69119993
4 LMOD3 NM_198271.4(LMOD3):c.1628G>T (p.Arg543Leu)SNV Pathogenic 692211 3:69167878-69167878 3:69118727-69118727
5 LMOD3 NM_198271.4(LMOD3):c.138dup (p.Ser47fs)duplication Pathogenic 162215 rs727502797 3:69171399-69171400 3:69122248-69122249
6 LMOD3 NM_001304418.2(LMOD3):c.1100_1102ACA[1] (p.Asn368del)short repeat Pathogenic 162216 rs727502798 3:69168401-69168403 3:69119250-69119252
7 LMOD3 NM_198271.4(LMOD3):c.1201C>T (p.Arg401Ter)SNV Pathogenic 162217 rs724159964 3:69168305-69168305 3:69119154-69119154
8 LMOD3 NM_198271.4(LMOD3):c.1099_1100del (p.Asn367fs)deletion Pathogenic 162218 rs727502799 3:69168406-69168407 3:69119255-69119256
9 LMOD3 NM_198271.4(LMOD3):c.1069G>T (p.Glu357Ter)SNV Pathogenic 162219 rs724159965 3:69168437-69168437 3:69119286-69119286
10 LMOD3 NM_198271.4(LMOD3):c.366del (p.Lys122fs)deletion Likely pathogenic 692210 rs1368453406 3:69169140-69169140 3:69119989-69119989
11 LMOD3 NM_198271.4(LMOD3):c.1667C>A (p.Pro556Gln)SNV Conflicting interpretations of pathogenicity 218866 rs201205115 3:69158262-69158262 3:69109111-69109111
12 LMOD3 NM_198271.4(LMOD3):c.1648C>T (p.Leu550Phe)SNV Conflicting interpretations of pathogenicity 374498 rs1057519128 3:69167858-69167858 3:69118707-69118707
13 LMOD3 NM_198271.4(LMOD3):c.779T>C (p.Leu260Pro)SNV Conflicting interpretations of pathogenicity 432042 rs1553687898 3:69168727-69168727 3:69119576-69119576
14 LMOD3 NM_198271.4(LMOD3):c.608C>G (p.Pro203Arg)SNV Conflicting interpretations of pathogenicity 475329 rs775919681 3:69168898-69168898 3:69119747-69119747
15 LMOD3 NM_198271.4(LMOD3):c.456T>A (p.Asp152Glu)SNV Uncertain significance 475326 rs1388186593 3:69169050-69169050 3:69119899-69119899
16 LMOD3 NM_198271.4(LMOD3):c.332G>A (p.Arg111His)SNV Uncertain significance 475318 rs370401036 3:69169174-69169174 3:69120023-69120023
17 LMOD3 NM_198271.4(LMOD3):c.1259T>C (p.Leu420Ser)SNV Uncertain significance 475299 rs1553687786 3:69168247-69168247 3:69119096-69119096
18 LMOD3 NM_198271.4(LMOD3):c.1460T>C (p.Val487Ala)SNV Uncertain significance 475306 rs745318870 3:69168046-69168046 3:69118895-69118895
19 LMOD3 NM_198271.4(LMOD3):c.1529A>C (p.Asn510Thr)SNV Uncertain significance 475309 rs538402410 3:69167977-69167977 3:69118826-69118826
20 LMOD3 NM_198271.4(LMOD3):c.1139C>T (p.Pro380Leu)SNV Uncertain significance 475295 rs765223466 3:69168367-69168367 3:69119216-69119216
21 LMOD3 NM_198271.4(LMOD3):c.671A>G (p.Asp224Gly)SNV Uncertain significance 475331 rs898638017 3:69168835-69168835 3:69119684-69119684
22 LMOD3 NM_198271.4(LMOD3):c.296A>G (p.Glu99Gly)SNV Uncertain significance 475317 rs1258289949 3:69169210-69169210 3:69120059-69120059
23 LMOD3 NM_198271.5(LMOD3):c.444_446AGA[3] (p.Glu151del)short repeat Uncertain significance 475325 rs753459417 3:69169051-69169053 3:69119900-69119902
24 LMOD3 NM_198271.4(LMOD3):c.1544T>A (p.Ile515Asn)SNV Uncertain significance 542083 rs747837263 3:69167962-69167962 3:69118811-69118811
25 LMOD3 NM_198271.4(LMOD3):c.1030C>T (p.Arg344Trp)SNV Uncertain significance 475294 rs778824655 3:69168476-69168476 3:69119325-69119325
26 LMOD3 NM_198271.4(LMOD3):c.1645T>C (p.Tyr549His)SNV Uncertain significance 542081 rs200045981 3:69167861-69167861 3:69118710-69118710
27 LMOD3 NM_198271.4(LMOD3):c.1664T>A (p.Leu555Gln)SNV Uncertain significance 542084 rs377612351 3:69158265-69158265 3:69109114-69109114
28 LMOD3 NM_198271.4(LMOD3):c.1441G>A (p.Asp481Asn)SNV Uncertain significance 542082 rs750502860 3:69168065-69168065 3:69118914-69118914
29 LMOD3 NM_198271.4(LMOD3):c.203A>G (p.His68Arg)SNV Uncertain significance 542085 rs752432695 3:69171335-69171335 3:69122184-69122184
30 LMOD3 NM_198271.4(LMOD3):c.1152G>A (p.Met384Ile)SNV Uncertain significance 575383 rs1424776785 3:69168354-69168354 3:69119203-69119203
31 LMOD3 NM_198271.4(LMOD3):c.1576C>T (p.Pro526Ser)SNV Uncertain significance 573278 rs201771939 3:69167930-69167930 3:69118779-69118779
32 LMOD3 NM_198271.4(LMOD3):c.521A>T (p.Glu174Val)SNV Uncertain significance 572078 rs1559662229 3:69168985-69168985 3:69119834-69119834
33 LMOD3 NM_198271.4(LMOD3):c.292G>A (p.Glu98Lys)SNV Uncertain significance 569573 rs1467437318 3:69171246-69171246 3:69122095-69122095
34 LMOD3 NM_198271.4(LMOD3):c.1249A>T (p.Ile417Leu)SNV Uncertain significance 580464 rs745957045 3:69168257-69168257 3:69119106-69119106
35 LMOD3 NM_198271.4(LMOD3):c.453A>T (p.Glu151Asp)SNV Uncertain significance 567348 rs376142558 3:69169053-69169053 3:69119902-69119902
36 LMOD3 NM_198271.4(LMOD3):c.1507A>G (p.Arg503Gly)SNV Uncertain significance 574953 rs764972614 3:69167999-69167999 3:69118848-69118848
37 LMOD3 NM_198271.4(LMOD3):c.1079T>C (p.Ile360Thr)SNV Uncertain significance 567261 rs1559661751 3:69168427-69168427 3:69119276-69119276
38 LMOD3 NM_198271.4(LMOD3):c.656A>G (p.Lys219Arg)SNV Uncertain significance 579623 rs190038977 3:69168850-69168850 3:69119699-69119699
39 LMOD3 NM_198271.4(LMOD3):c.169C>A (p.Gln57Lys)SNV Uncertain significance 575688 rs1559663262 3:69171369-69171369 3:69122218-69122218
40 LMOD3 NM_198271.5(LMOD3):c.1681dup (p.Ter561LeuextTer?)duplication Uncertain significance 656094 3:69158247-69158248 3:69109096-69109097
41 LMOD3 NM_198271.4(LMOD3):c.1550C>T (p.Thr517Met)SNV Uncertain significance 666161 3:69167956-69167956 3:69118805-69118805
42 LMOD3 NM_198271.4(LMOD3):c.1484G>T (p.Arg495Leu)SNV Uncertain significance 654151 3:69168022-69168022 3:69118871-69118871
43 LMOD3 NM_198271.4(LMOD3):c.1468C>A (p.Leu490Met)SNV Uncertain significance 654776 3:69168038-69168038 3:69118887-69118887
44 LMOD3 NM_198271.4(LMOD3):c.1384T>G (p.Phe462Val)SNV Uncertain significance 660061 3:69168122-69168122 3:69118971-69118971
45 LMOD3 NM_198271.4(LMOD3):c.1332G>T (p.Gln444His)SNV Uncertain significance 643658 3:69168174-69168174 3:69119023-69119023
46 LMOD3 NM_198271.4(LMOD3):c.1280C>T (p.Pro427Leu)SNV Uncertain significance 642773 3:69168226-69168226 3:69119075-69119075
47 LMOD3 NM_198271.4(LMOD3):c.875T>C (p.Val292Ala)SNV Uncertain significance 659242 3:69168631-69168631 3:69119480-69119480
48 LMOD3 NM_198271.4(LMOD3):c.506C>T (p.Thr169Met)SNV Uncertain significance 655968 3:69169000-69169000 3:69119849-69119849
49 LMOD3 NM_198271.4(LMOD3):c.266G>A (p.Arg89Gln)SNV Uncertain significance 646174 3:69171272-69171272 3:69122121-69122121
50 LMOD3 NM_198271.4(LMOD3):c.160C>G (p.Gln54Glu)SNV Uncertain significance 653040 3:69171378-69171378 3:69122227-69122227
51 LMOD3 NM_198271.4(LMOD3):c.89A>C (p.Glu30Ala)SNV Uncertain significance 656879 3:69171449-69171449 3:69122298-69122298
52 LMOD3 NM_198271.4(LMOD3):c.295-3T>CSNV Uncertain significance 652224 3:69169214-69169214 3:69120063-69120063
53 LMOD3 NM_198271.4(LMOD3):c.1004A>G (p.Gln335Arg)SNV Uncertain significance 374499 rs1057519129 3:69168502-69168502 3:69119351-69119351
54 LMOD3 NM_198271.5(LMOD3):c.1600C>G (p.Pro534Ala)SNV Uncertain significance 846792 3:69167906-69167906 3:69118755-69118755
55 LMOD3 NM_198271.5(LMOD3):c.1657G>A (p.Val553Met)SNV Uncertain significance 856212 3:69158272-69158272 3:69109121-69109121
56 LMOD3 NM_198271.5(LMOD3):c.1606G>C (p.Asp536His)SNV Uncertain significance 852051 3:69167900-69167900 3:69118749-69118749
57 LMOD3 NM_198271.5(LMOD3):c.1427C>T (p.Pro476Leu)SNV Uncertain significance 858092 3:69168079-69168079 3:69118928-69118928
58 LMOD3 NM_198271.5(LMOD3):c.1348C>T (p.Pro450Ser)SNV Uncertain significance 857405 3:69168158-69168158 3:69119007-69119007
59 LMOD3 NM_198271.5(LMOD3):c.872A>G (p.Asn291Ser)SNV Uncertain significance 850541 3:69168634-69168634 3:69119483-69119483
60 LMOD3 NM_198271.5(LMOD3):c.761A>G (p.Asp254Gly)SNV Uncertain significance 856970 3:69168745-69168745 3:69119594-69119594
61 LMOD3 NM_198271.5(LMOD3):c.667C>G (p.Leu223Val)SNV Uncertain significance 836274 3:69168839-69168839 3:69119688-69119688
62 LMOD3 NM_198271.5(LMOD3):c.468_470CGA[1] (p.Asp157del)short repeat Uncertain significance 849579 3:69169033-69169035 3:69119882-69119884
63 LMOD3 NM_198271.5(LMOD3):c.469G>A (p.Asp157Asn)SNV Uncertain significance 852334 3:69169037-69169037 3:69119886-69119886
64 LMOD3 NM_198271.5(LMOD3):c.456_458TGA[7] (p.Asp155_Asp157dup)short repeat Uncertain significance 836457 3:69169038-69169039 3:69119887-69119888
65 LMOD3 NM_198271.5(LMOD3):c.466G>C (p.Asp156His)SNV Uncertain significance 857152 3:69169040-69169040 3:69119889-69119889
66 LMOD3 NM_198271.5(LMOD3):c.453_458del (p.Glu151_Asp152del)deletion Uncertain significance 850950 3:69169048-69169053 3:69119897-69119902
67 LMOD3 NM_198271.5(LMOD3):c.150G>A (p.Val50=)SNV Uncertain significance 849886 3:69171388-69171388 3:69122237-69122237
68 LMOD3 NM_198271.5(LMOD3):c.148G>A (p.Val50Met)SNV Uncertain significance 862573 3:69171390-69171390 3:69122239-69122239
69 LMOD3 NM_198271.5(LMOD3):c.142C>G (p.Leu48Val)SNV Uncertain significance 863284 3:69171396-69171396 3:69122245-69122245
70 LMOD3 NM_198271.5(LMOD3):c.117G>C (p.Met39Ile)SNV Uncertain significance 862414 3:69171421-69171421 3:69122270-69122270
71 LMOD3 NM_198271.5(LMOD3):c.52A>G (p.Ile18Val)SNV Uncertain significance 863058 3:69171486-69171486 3:69122335-69122335
72 LMOD3 NM_198271.4(LMOD3):c.123C>T (p.Val41=)SNV Likely benign 542090 rs373026196 3:69171415-69171415 3:69122264-69122264
73 LMOD3 NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys)SNV Likely benign 705169 3:69171291-69171291 3:69122140-69122140
74 LMOD3 NM_198271.5(LMOD3):c.42C>T (p.Leu14=)SNV Likely benign 704647 3:69171496-69171496 3:69122345-69122345
75 LMOD3 NM_198271.5(LMOD3):c.1579C>T (p.Pro527Ser)SNV Likely benign 772523 3:69167927-69167927 3:69118776-69118776
76 LMOD3 NM_198271.5(LMOD3):c.778C>T (p.Leu260=)SNV Likely benign 772420 3:69168728-69168728 3:69119577-69119577
77 LMOD3 NM_198271.5(LMOD3):c.1335A>G (p.Glu445=)SNV Likely benign 729766 3:69168171-69168171 3:69119020-69119020
78 LMOD3 NM_198271.5(LMOD3):c.1341C>T (p.Phe447=)SNV Likely benign 798092 3:69168165-69168165 3:69119014-69119014
79 LMOD3 NM_198271.4(LMOD3):c.1377T>C (p.Asn459=)SNV Likely benign 542086 rs371736714 3:69168129-69168129 3:69118978-69118978
80 LMOD3 NM_198271.4(LMOD3):c.1518C>A (p.Pro506=)SNV Likely benign 542088 rs377380955 3:69167988-69167988 3:69118837-69118837
81 LMOD3 NM_198271.4(LMOD3):c.200A>G (p.Asn67Ser)SNV Likely benign 475314 rs570247132 3:69171338-69171338 3:69122187-69122187
82 LMOD3 NM_198271.4(LMOD3):c.375T>C (p.Asn125=)SNV Likely benign 542091 rs375595641 3:69169131-69169131 3:69119980-69119980
83 LMOD3 NM_198271.4(LMOD3):c.147C>T (p.Pro49=)SNV Likely benign 542092 rs184423475 3:69171391-69171391 3:69122240-69122240
84 LMOD3 NM_198271.4(LMOD3):c.819C>T (p.Asp273=)SNV Likely benign 542087 rs375767322 3:69168687-69168687 3:69119536-69119536
85 LMOD3 NM_198271.4(LMOD3):c.186G>A (p.Pro62=)SNV Likely benign 475313 rs757791893 3:69171352-69171352 3:69122201-69122201
86 LMOD3 NM_198271.4(LMOD3):c.129C>T (p.Ala43=)SNV Likely benign 475301 rs201709177 3:69171409-69171409 3:69122258-69122258
87 LMOD3 NM_198271.4(LMOD3):c.1428G>A (p.Pro476=)SNV Likely benign 475305 rs367573665 3:69168078-69168078 3:69118927-69118927
88 LMOD3 NM_198271.4(LMOD3):c.1416A>G (p.Pro472=)SNV Likely benign 475304 rs563513367 3:69168090-69168090 3:69118939-69118939
89 LMOD3 NM_198271.4(LMOD3):c.1659G>T (p.Val553=)SNV Likely benign 475311 rs947092258 3:69158270-69158270 3:69109119-69109119
90 LMOD3 NM_198271.4(LMOD3):c.1519G>A (p.Glu507Lys)SNV Likely benign 475308 rs149196259 3:69167987-69167987 3:69118836-69118836
91 LMOD3 NM_198271.4(LMOD3):c.927T>C (p.Asn309=)SNV Likely benign 475335 rs181434087 3:69168579-69168579 3:69119428-69119428
92 LMOD3 NM_198271.4(LMOD3):c.788T>C (p.Ile263Thr)SNV Likely benign 475333 rs9835034 3:69168718-69168718 3:69119567-69119567
93 LMOD3 NM_198271.4(LMOD3):c.1190A>G (p.Gln397Arg)SNV Likely benign 475293 rs199592188 3:69168316-69168316 3:69119165-69119165
94 LMOD3 NM_198271.4(LMOD3):c.416A>G (p.Asn139Ser)SNV Likely benign 475321 rs150380359 3:69169090-69169090 3:69119939-69119939
95 LMOD3 NM_198271.4(LMOD3):c.438A>G (p.Glu146=)SNV Likely benign 475324 rs758216222 3:69169068-69169068 3:69119917-69119917
96 LMOD3 NM_198271.4(LMOD3):c.253C>A (p.Leu85Met)SNV Benign/Likely benign 435782 rs80113271 3:69171285-69171285 3:69122134-69122134
97 LMOD3 NM_198271.4(LMOD3):c.252G>A (p.Met84Ile)SNV Benign/Likely benign 435783 rs78574883 3:69171286-69171286 3:69122135-69122135
98 LMOD3 NM_198271.4(LMOD3):c.1655C>A (p.Pro552His)SNV Benign 475310 rs145387235 3:69167851-69167851 3:69118700-69118700
99 LMOD3 NM_198271.4(LMOD3):c.1313A>T (p.Lys438Met)SNV Benign 475302 rs6810145 3:69168193-69168193 3:69119042-69119042
100 LMOD3 NM_198271.4(LMOD3):c.1257G>C (p.Met419Ile)SNV Benign 475298 rs75713718 3:69168249-69168249 3:69119098-69119098
101 LMOD3 NM_198271.4(LMOD3):c.39_41del (p.Leu14del)deletion Benign 475320 rs139192915 3:69171497-69171499 3:69122346-69122348
102 LMOD3 NM_198271.4(LMOD3):c.1493G>A (p.Arg498Gln)SNV Benign 475307 rs116440123 3:69168013-69168013 3:69118862-69118862
103 LMOD3 NM_198271.4(LMOD3):c.642G>A (p.Ser214=)SNV Benign 475330 rs9815992 3:69168864-69168864 3:69119713-69119713
104 LMOD3 NM_198271.4(LMOD3):c.426A>C (p.Glu142Asp)SNV Benign 475322 rs111848977 3:69169080-69169080 3:69119929-69119929
105 LMOD3 NM_198271.4(LMOD3):c.252_253delinsAA (p.Met84_Leu85delinsIleMet)indel Benign 475316 rs1553688177 3:69171285-69171286 3:69122134-69122135
106 LMOD3 NM_198271.4(LMOD3):c.1679C>T (p.Ala560Val)SNV Benign 475312 rs17005363 3:69158250-69158250 3:69109099-69109099
107 LMOD3 NM_198271.4(LMOD3):c.1270T>C (p.Leu424=)SNV Benign 475300 rs72924884 3:69168236-69168236 3:69119085-69119085
108 LMOD3 NM_198271.4(LMOD3):c.135C>T (p.Asp45=)SNV Benign 475303 rs138906041 3:69171403-69171403 3:69122252-69122252
109 LMOD3 NM_198271.4(LMOD3):c.1144C>T (p.Pro382Ser)SNV Benign 475296 rs74350755 3:69168362-69168362 3:69119211-69119211
110 LMOD3 NM_198271.4(LMOD3):c.759T>C (p.Pro253=)SNV Benign 475332 rs115972674 3:69168747-69168747 3:69119596-69119596
111 LMOD3 NM_198271.4(LMOD3):c.878G>A (p.Gly293Asp)SNV Benign 475334 rs111797345 3:69168628-69168628 3:69119477-69119477
112 LMOD3 NM_198271.4(LMOD3):c.1226A>G (p.Gln409Arg)SNV Benign 475297 rs116257053 3:69168280-69168280 3:69119129-69119129
113 LMOD3 NM_198271.4(LMOD3):c.426A>G (p.Glu142=)SNV Benign 475323 rs111848977 3:69169080-69169080 3:69119929-69119929
114 LMOD3 NM_198271.4(LMOD3):c.248G>A (p.Arg83His)SNV Benign 475315 rs35740823 3:69171290-69171290 3:69122139-69122139
115 LMOD3 NM_198271.4(LMOD3):c.132T>C (p.Pro44=)SNV Benign 542089 rs774850879 3:69171406-69171406 3:69122255-69122255
116 LMOD3 NM_198271.5(LMOD3):c.837G>A (p.Lys279=)SNV Benign 698004 3:69168669-69168669 3:69119518-69119518
117 LMOD3 NM_198271.5(LMOD3):c.1617A>G (p.Leu539=)SNV Benign 703041 3:69167889-69167889 3:69118738-69118738

UniProtKB/Swiss-Prot genetic disease variations for Nemaline Myopathy 10:

73 (showing 1, show less)
# Symbol AA change Variation ID SNP ID
1 LMOD3 p.Gly326Arg VAR_072643

Expression for Nemaline Myopathy 10

Search GEO for disease gene expression data for Nemaline Myopathy 10.

Pathways for Nemaline Myopathy 10

GO Terms for Nemaline Myopathy 10

Cellular components related to Nemaline Myopathy 10 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 cytoplasm GO:0005737 9.92 MYPN LMOD3 KLHL41 KLHL40 KBTBD13 DNPEP
2 M band GO:0031430 9.26 LMOD3 KLHL41
3 A band GO:0031672 9.16 LMOD3 KLHL40
4 Cul3-RING ubiquitin ligase complex GO:0031463 9.13 KLHL9 KLHL41 KLHL40
5 I band GO:0031674 8.8 MYPN KLHL40 CFL2

Biological processes related to Nemaline Myopathy 10 according to GeneCards Suite gene sharing:

(showing 5, show less)
# Name GO ID Score Top Affiliating Genes
1 post-translational protein modification GO:0043687 9.5 KLHL9 KLHL41 KBTBD13
2 striated muscle contraction GO:0006941 9.26 LMOD3 KLHL41
3 myofibril assembly GO:0030239 9.16 LMOD3 KLHL41
4 sarcomere organization GO:0045214 9.13 MYPN KLHL41 CFL2
5 skeletal muscle fiber development GO:0048741 8.8 LMOD3 KLHL41 KLHL40

Sources for Nemaline Myopathy 10

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
17 EFO
18 ExPASy
19 FMA
28 GO
29 GTR
30 HMDB
31 HPO
32 ICD10
33 ICD10 via Orphanet
34 ICD9CM
35 IUPHAR
36 KEGG
37 LifeMap
39 LOVD
41 MedGen
43 MeSH
44 MESH via Orphanet
45 MGI
48 NCI
49 NCIt
50 NDF-RT
53 NINDS
54 Novoseek
56 OMIM
57 OMIM via Orphanet
61 PubMed
63 QIAGEN
68 SNOMED-CT via HPO
69 TGDB
70 Tocris
71 UMLS
72 UMLS via Orphanet
Content
Loading form....