Muscular dystrophy and myopathy_Paediatric

Gene: LMOD3

Green List (high evidence)

LMOD3 (leiomodin 3)
EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 9 panels

2 reviews

Sangavi Sivagnanasundram (Melbourne Health)

Green List (high evidence)

Age of onset is typically during pregnancy (antenatal) however severity of the condition is variable.
Typical phenotypes include: severe generalized hypotonia and weakness at birth, respiratory insufficiency, feeding difficulties, and bulbar weakness

PMID: 25250574
Multiple individuals from unrelated families (21 individuals from 14 patients).
Segregation analysis was consistent of an AR inheritance
Zebrafish model showed the complete loss of function in myotubes resulting in abnormal motor function.
Sources: Other
Created: 8 May 2023, 11:35 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10 (MIM# 616165; MONDO:0014513)

Publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

Nemaline myopathy-10 is an autosomal recessive severe congenital myopathy characterised by early-onset generalised muscle weakness and hypotonia with respiratory insufficiency and feeding difficulties. Severity is highly variable.

Over 20 families reported.
Created: 16 Oct 2020, 7:04 a.m. | Last Modified: 16 Oct 2020, 7:04 a.m.
Panel Version: 0.287

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nemaline myopathy 10, MIM# 616165

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Expert Review Green
Phenotypes
  • Nemaline myopathy 10 (MIM# 616165
  • MONDO:0014513)
OMIM
616112
Clinvar variants
Variants in LMOD3
Penetrance
None
Publications
Panels with this gene

History Filter Activity

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lmod3 has been classified as Green List (High Evidence).

1 Jun 2023, Gel status: 3

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: lmod3 has been classified as Green List (High Evidence).

8 May 2023, Gel status: 0

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sangavi Sivagnanasundram (Melbourne Health)

gene: LMOD3 was added gene: LMOD3 was added to Muscular dystrophy_Paediatric. Sources: Other Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD3 were set to 25250574; 28815944; 30291184 Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10 (MIM# 616165; MONDO:0014513) Review for gene: LMOD3 was set to GREEN