Dilated Cardiomyopathy and conduction defects
Gene: MYL3
MYL3 (myosin light chain 3)
EnsemblGeneIds (GRCh38): ENSG00000160808
EnsemblGeneIds (GRCh37): ENSG00000160808
OMIM: 160790, Gene2Phenotype
MYL3 is in 5 panels
EnsemblGeneIds (GRCh38): ENSG00000160808
EnsemblGeneIds (GRCh37): ENSG00000160808
OMIM: 160790, Gene2Phenotype
MYL3 is in 5 panels
2 reviews
Rebecca Whittington (South West GLH)
Cardiomyopathy, hypertrophic, 8 OMIM#608751Created: 25 Mar 2019, 4:30 p.m.
26 variants listed as DM on HGMD, 1 assoc with DCM: Zhao 2015 Int J Mol Med. 2015 Dec;36(6):1479-86. doi: 10.3892/ijmm.2015.2361 - 1 variant assoc with DCM no freq but weak BI. Epub 2015 Oct 7.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)
Variants in this GENE are reported as part of current diagnostic practice
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- South West GLH
- Oxford Medical Genetics Laboratory
- OMIM
- 160790
- Clinvar variants
- Variants in MYL3
- 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 MYL3. Mode of inheritance for gene MYL3 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Aug 2017, Gel status: 0
Created
Ellen McDonagh (Genomics England Curator)MYL3 was created by ellenmcdonagh
17 Aug 2017, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)MYL3 was added to Dilated Cardiomyopathy and conduction defectspanel. Sources: Oxford Medical Genetics Laboratory