LAMA5

laminin subunit alpha 5
OMIM: 601033, Gene2Phenotype

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Red LAMA5 in Arthrogryposis Level 2: Neurology Version 10.24 Latest signed off version: v10.16 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Bent bone dysplasia syndrome 2, OMIM:620076 bent bone dysplasia syndrome 2, MONDO:0859573
Red LAMA5 in Congenital myaesthenic syndrome Level 2: Neurology Version 6.3 Latest signed off version: v6.2 (12 Aug 2026) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Wessex and West Midlands GLH Phenotypes myopia, facial tics, and failure of neuromuscular transmission
Red LAMA5 in Skeletal dysplasia Level 2: Musculoskeletal Version 10.33 Latest signed off version: v10.0 (12 Aug 2026) Component of the following Super Panels: Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes ?Bent bone dysplasia syndrome 2, OMIM:620076 bent bone dysplasia syndrome 2, MONDO:0859573
Green LAMA5 in Fetal anomalies Level 2: Fetal (including NIPD) Version 8.31 Latest signed off version: v8.0 (12 Aug 2026)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 26, OMIM:620049
Amber LAMA5 in Proteinuric renal disease Level 2: Renal Version 6.24 Latest signed off version: v6.13 (12 Aug 2026) Component of the following Super Panels: Unexplained young onset end-stage renal disease	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS Phenotypes Nephrotic syndrome, type 26, OMIM:620049 familial nephrotic syndrome, MONDO:0002350 Tags Q4_26_promote_green