Paediatric or syndromic cardiomyopathy
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
Ivone Leong (Genomics England Curator)
Submitted on behalf of the GMS Cardiology specialist group. The group has agreed that this gene should be Red on this panel.Created: 2 Dec 2019, 3:58 p.m. | Last Modified: 2 Dec 2019, 3:58 p.m.
Panel Version: 0.16
Rebecca Whittington (South West GLH)
Cardiomyopathy, dilated, 1JJ OMIM#615235Created: 25 Mar 2019, 4:30 p.m.
HGMD: 5 DM variants on HGMD assoc with HCM (Bottillo (2016) Gene 577: 227 PubMed: 26656175) and DCM -Marston (2015) PLoS One 10: e0138568 PubMed: 26406308. Appears to be adult onset and not a lot of evidence of pathogenic variants.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
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- NHS GMS
- South West GLH
- Expert Review Red
- OMIM
- 600133
- Clinvar variants
- Variants in LAMA4
- Penetrance
- None
- Panels with this gene
History Filter Activity
2 Dec 2019, Gel status: 1
Added New Source
Ivone Leong (Genomics England Curator)Source NHS GMS was added to LAMA4.
4 Sep 2019, Gel status: 1
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: LAMA4 was added gene: LAMA4 was added to Cardiomyopathies - including childhood onset. Sources: Expert Review Red,South West GLH Mode of inheritance for gene: LAMA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted