LAMB2

laminin subunit beta 2
OMIM: 150325, Gene2Phenotype

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
No list LAMB2 in Fetal hydrops Level 3: Fetal disorders Level 2: Dysmorphic and congenital abnormality syndromes Version 1.64	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature Phenotypes Nonimmune hydrops fetalis
Red LAMB2 in Corneal abnormalities Level 3: Anterior segment abnormalities Level 2: Ophthalmological disorders Version 1.13	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red GDL Corneal Abnormalities panel Phenotypes Pierson syndrome 609049
Green LAMB2 in Unexplained kidney failure in young people Level 3: Disorders of function Level 2: Renal and urinary tract disorders Version 1.119 Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Radboud University Medical Center, Nijmegen Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities 614199 Pierson syndrome 609049
Red LAMB2 in Congenital myaesthenic syndrome Level 3: Neuromuscular disorders Level 2: Neurology and neurodevelopmental disorders Version 4.6 Latest signed off version: v4.5 (1 May 2024) 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 Literature Phenotypes Congenital myasthenic syndrome congenital myasthenic syndrome (CMS) associated with congenital nephrosis and ocular malformations synaptic congenital myasthenic syndrome
Green LAMB2 in Unexplained young onset end-stage renal disease Version 4.3 Latest signed off version: v4.0 (1 May 2024) Component of the following Super Panels: Renal superpanel - broad	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Pierson syndrome 609049 Nephrotic syndrome, type 5, with or without ocular abnormalities 614199
Amber LAMB2 in Intellectual disability Level 3: Neurodevelopmental disorders Level 2: Neurology and neurodevelopmental disorders Version 6.13 Latest signed off version: v6.0 (1 May 2024) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert list Phenotypes Pierson syndrome, MIM#609049
Green LAMB2 in Structural eye disease Version 3.79 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green NHS GMS Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 Pierson syndrome, 609049
Green LAMB2 in Proteinuric renal disease Level 3: Syndromes with prominent renal abnormalities Level 2: Renal and urinary tract disorders Version 4.12 Latest signed off version: v4.0 (22 Mar 2023) Component of the following Super Panels: Renal superpanel - broad Renal superpanel - narrow	review	BIALLELIC, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Eligibility statement prior genetic testing Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities #614199 Pierson syndrome #609049
Green LAMB2 in Severe Paediatric Disorders Version 1.184	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Next Generation Children Project Expert Review Green Expert list Phenotypes Nephrotic syndrome, type 5, with or without ocular abnormalities, 614199 Pierson syndrome, 609049