Congenital myaesthenic syndrome

Gene: LAMA5

Red List (low evidence)

LAMA5 (laminin subunit alpha 5)
EnsemblGeneIds (GRCh38): ENSG00000130702
EnsemblGeneIds (GRCh37): ENSG00000130702
OMIM: 601033, Gene2Phenotype
LAMA5 is in 5 panels

2 reviews

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

Leave as Red, awaiting more information on this gene and potential disease association.
Created: 16 Oct 2019, 1:42 p.m. | Last Modified: 16 Oct 2019, 1:42 p.m.
Panel Version: 1.70
Review and rating from Michael Oldridge (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust), submitted by Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group.
Created: 30 Apr 2019, 9:30 a.m.

Michael Oldridge (NHS)

Red List (low evidence)

Maselli et al report hom missense variant (patient also hom for LAMA1 variant, not thought to be causal as fetally expressed)
Created: 29 Apr 2019, 4:33 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Wessex and West Midlands GLH
Phenotypes
  • myopia, facial tics, and failure of neuromuscular transmission
OMIM
601033
Clinvar variants
Variants in LAMA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

16 Oct 2019, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: LAMA5 were changed from to myopia, facial tics, and failure of neuromuscular transmission

30 Apr 2019, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: LAMA5 was changed from to BIALLELIC, autosomal or pseudoautosomal

29 Apr 2019, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene LAMA5 were changed from to 28544784

29 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to LAMA5.

29 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: LAMA5 was added gene: LAMA5 was added to Congenital myaesthenic syndrome. Sources: Wessex and West Midlands GLH Mode of inheritance for gene: LAMA5 was set to