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Cardiomyopathies - including childhood onset

Gene: LAMA4

Red List (low evidence)

LAMA4 (laminin subunit alpha 4)
EnsemblGeneIds (GRCh38): ENSG00000112769
EnsemblGeneIds (GRCh37): ENSG00000112769
OMIM: 600133, Gene2Phenotype
LAMA4 is in 4 panels

2 reviews

Ivone Leong (Genomics England Curator)

Red List (low evidence)

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)

Red List (low evidence)

Cardiomyopathy, dilated, 1JJ OMIM#615235
Created: 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