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  3. LAMA5
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Congenital Myasthenia

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Red List (low evidence)

Single family with homozygous missense reported twice.
Created: 24 Oct 2020, 8:58 a.m. | Last Modified: 24 Oct 2020, 8:58 a.m.
Panel Version: 0.39

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Presynaptic congenital myasthenic syndrome

Publications

Created: 24 Oct 2020, 8:58 a.m.
Last Modified: 24 Oct 2020, 8:58 a.m.
Panel version: 0.39

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Royal Melbourne Hospital
Phenotypes
  • Presynaptic congenital myasthenic syndrome
OMIM
601033
Clinvar variants
Variants in LAMA5
Penetrance
None
Publications
Panels with this gene

History Filter Activity

24 Oct 2020, Gel status: 1

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: lama5 has been classified as Red List (Low Evidence).

24 Oct 2020, Gel status: 1

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: LAMA5 were changed from muscle weakness, myopia, and facial tics to Presynaptic congenital myasthenic syndrome

24 Oct 2020, Gel status: 1

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: LAMA5 were set to 28544784

14 Jan 2020, Gel status: 1

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Bryony Thompson (Royal Melbourne Hospital)

gene: LAMA5 was added gene: LAMA5 was added to Congenital Myaesthenic Syndrome_RMH. Sources: Expert Review Red,Royal Melbourne Hospital Mode of inheritance for gene: LAMA5 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: LAMA5 were set to 28544784 Phenotypes for gene: LAMA5 were set to muscle weakness, myopia, and facial tics