Arthrogryposis
Gene: LMOD3EnsemblGeneIds (GRCh38): ENSG00000163380
EnsemblGeneIds (GRCh37): ENSG00000163380
OMIM: 616112, Gene2Phenotype
LMOD3 is in 4 panels
1 review
Alice Gardham (Genomics England)
Mutations found in 21 patients from 14 families. Mouse models support evidenceCreated: 22 Dec 2016, 1:40 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Nemaline myopathy 10 616165
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Nemaline myopathy 10, OMIM:616165
- OMIM
- 616112
- Clinvar variants
- Variants in LMOD3
- Penetrance
- Complete
- Publications
- Panels with this gene
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: LMOD3 were changed from Nemaline myopathy 10 616165 to Nemaline myopathy 10, OMIM:616165
Set publications
Arina Puzriakova (Genomics England Curator)Publications for gene: LMOD3 were set to 25250574
panel promoted to version 2
Ellen McDonagh (Genomics England Curator)16th Jan 2016: This gene panel was extensively revised with the addition of 101 green genes and review by Alice Gardham. Due to this extensive change to the panel, the decision was made to promote it to the next major version, version 2.
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Created
Alice Gardham (Genomics England)LMOD3 was created by agardham
Added New Source
Alice Gardham (Genomics England)LMOD3 was added to Arthrogryposispanel. Sources: Literature