Hypertrophic cardiomyopathy - teen and adult

Gene: LMNA

Red List (low evidence)

LMNA (lamin A/C)
EnsemblGeneIds (GRCh38): ENSG00000160789
EnsemblGeneIds (GRCh37): ENSG00000160789
OMIM: 150330, Gene2Phenotype
LMNA is in 28 panels

2 reviews

Rebecca Whittington (South West GLH)

Red List (low evidence)

Cardiomyopathy, dilated, 1A (115200) and others
Created: 25 Mar 2019, 4:30 p.m.
1 report on HGMD associated with HCM, other cardiomyopathy phenotypes described
Created: 25 Mar 2019, 4:27 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)

Red List (low evidence)

Suggest removal from HCM panel
Created: 6 Jan 2016, 5:11 p.m.

History Filter Activity

21 Feb 2019, Gel status: 1

Added New Source, Set mode of inheritance

Ellen McDonagh (Genomics England Curator)

Source South West GLH was added to LMNA. Mode of inheritance for gene LMNA was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Hypertrophic Cardiomyopathypanel. Sources: Expert list

13 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

LMNA was added to Hypertrophic Cardiomyopathypanel. Sources: Illumina TruGenome Clinical Sequencing Services