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Severe Paediatric Disorders

Gene: LAMA2

Green List (high evidence)

LAMA2 (laminin subunit alpha 2)
EnsemblGeneIds (GRCh38): ENSG00000196569
EnsemblGeneIds (GRCh37): ENSG00000196569
OMIM: 156225, Gene2Phenotype
LAMA2 is in 9 panels

1 review

Louise Daugherty (Genomics England Curator)

I don't know

Initial gene list (NGC_genelist-20190823_GREEN_dis_moi_forCuration_20200211.xlsx) collated by Dr Courtney French (University of Cambridge University Hospital NHS Foundation), Dr Karyn Megy (Clinical Feedback Lead, NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation), Dr Alba Sanchis-Juan (NIHR BioResource - Rare Diseases Study, University of Cambridge University Hospital NHS Foundation) and Lucy Raymond (Professor of Medical Genetics and Neurodevelopment, University of Cambridge University Hospital NHS Foundation). Submitted to the PanelApp resource January 2020 on behalf of the Next Generation Children Project, Addenbrookes' Hospital, Cambridge. Gene Symbol submitted: LAMA2; Recommended initial gene rating: Green List (high evidence); Phenotypes: Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855 (3) | Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138 (3); Mode of inheritance: Autosomal recessive | Autosomal recessive
Created: 20 Feb 2020, 5:21 p.m. | Last Modified: 20 Feb 2020, 5:21 p.m.
Panel Version: 0.12

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Next Generation Children Project
  • Expert Review Green
  • Expert list
Phenotypes
  • Muscular dystrophy, limb-girdle, autosomal recessive 23, 618138
  • Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855
OMIM
156225
Clinvar variants
Variants in LAMA2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Feb 2020, Gel status: 3

Set mode of inheritance

L