Paediatric or syndromic cardiomyopathy
Gene: LMOD2
The rating of this gene has been updated to Green and the mode of inheritance set to 'BIALLELIC, autosomal or pseudoautosomal' following NHS Genomic Medicine Service approval.Created: 30 Jan 2023, 11:53 a.m. | Last Modified: 30 Jan 2023, 11:53 a.m.
Panel Version: 2.6
Comment on list classification: New gene added by Julia Baptista (Faculty of Health, University of Plymouth). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. Based on the expert review this gene should be rated Green at the next review as there is enough evidence to support a gene-disease association.Created: 25 May 2022, 8:48 a.m. | Last Modified: 25 May 2022, 8:48 a.m.
Panel Version: 1.72
Biallelic loss of function variants reported in four families to date. Three with homozygous variants and one compound heterozygous. Frameshift, canonical splice site and nonsense variants reported. Null mice model recapitulates the human phenotype of severe neonatal-onset cardiomyopathy.
Sources: LiteratureCreated: 9 May 2022, 1:25 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
dilated cardiomyopathy
Publications
Tag Q2_22_rating was removed from gene: LMOD2. Tag Q2_22_NHS_review was removed from gene: LMOD2.
Source Expert Review Green was added to LMOD2. Source NHS GMS was added to LMOD2. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)
Phenotypes for gene: LMOD2 were changed from dilated cardiomyopathy to dilated cardiomyopathy, MONDO:0005021
Tag Q2_22_NHS_review tag was added to gene: LMOD2.
Tag Q2_22_rating tag was added to gene: LMOD2.
Gene: lmod2 has been classified as Amber List (Moderate Evidence).
Publications for gene: LMOD2 were set to PMID: 35082396; 35188328; 34888509; 31517052
gene: LMOD2 was added gene: LMOD2 was added to Cardiomyopathies - including childhood onset. Sources: Literature Mode of inheritance for gene: LMOD2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LMOD2 were set to PMID: 35082396; 35188328; 34888509; 31517052 Phenotypes for gene: LMOD2 were set to dilated cardiomyopathy Review for gene: LMOD2 was set to GREEN