Dilated Cardiomyopathy and conduction defects
Gene: LAMA4
LAMA4 (laminin subunit alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000112769
EnsemblGeneIds (GRCh37): ENSG00000112769
OMIM: 600133, Gene2Phenotype
LAMA4 is in 4 panels
EnsemblGeneIds (GRCh38): ENSG00000112769
EnsemblGeneIds (GRCh37): ENSG00000112769
OMIM: 600133, Gene2Phenotype
LAMA4 is in 4 panels
2 reviews
Rebecca Whittington (South West GLH)
Cardiomyopathy, dilated, 1JJ OMIM#615235Created: 25 Mar 2019, 4:30 p.m.
HGMD: 11 variants assoc with DCM on HGMD only 3 classed as pathogenic - two in Knoll 2007, both have some functional studies. Six variants from Walsh 2017 as VUS. 1 from Marston 2015 assoc with DCM but no further info.Created: 25 Mar 2019, 4:27 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Variants in this GENE are reported as part of current diagnostic practice
Oxford Medical Genetics Laboratory (OUH NHS Foundation Trust)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Expert list
- Emory Genetics Laboratory
- OMIM
- 600133
- Clinvar variants
- Variants in LAMA4
- Penetrance
- Complete
- Panels with this gene
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 LAMA4. Mode of inheritance for gene LAMA4 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LAMA4 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list
14 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)LAMA4 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Emory Genetics Laboratory,Expert list