Congenital ophthalmoplegia
Gene: LMOD3
LMOD3 (leiomodin 3)
EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 9 panels
EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 9 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
In a series of 21 affected individuals, ophthalmoplegia was present in a third.
Sources: Expert listCreated: 22 Dec 2020, 5:20 a.m.
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 list
- Phenotypes
-
- Nemaline myopathy 10, MIM# 616165
- OMIM
- 616112
- Clinvar variants
- Variants in LMOD3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
22 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmod3 has been classified as Green List (High Evidence).
22 Dec 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: lmod3 has been classified as Green List (High Evidence).
22 Dec 2020, Gel status: 1
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: LMOD3 was added gene: LMOD3 was added to Congenital ophthalmoplegia. Sources: Expert list Mode of inheritance for gene: LMOD3 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD3 were set to 25250574 Phenotypes for gene: LMOD3 were set to Nemaline myopathy 10, MIM# 616165 Review for gene: LMOD3 was set to GREEN