Genomics England

LAMA2

laminin subunit alpha 2

Panel	Mode of inheritance	Details
Filter panels7 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 7.7	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Congenital Muscular Dystrophy, LAMA2-related, Muscular dystrophy, congenital merosin-deficient, 607855
Green in Congenital muscular dystrophy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R79 Signed-off version 4.29	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, OMIM:607855
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL MUSCULAR DYSTROPHY 607855
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 4.195	BIALLELIC, autosomal or pseudoautosomal	Phenotypes CONGENITAL MUSCULAR DYSTROPHY
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 7.51	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, congenital merosin-deficient, 607855Muscular dystrophy, congenital, due to partial LAMA2 deficiency, 607855, CONGENITAL MUSCULAR DYSTROPHY
Green in Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R82 Signed-off version 4.37	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient, 607855, congenital muscular dystroph
Green in Malformations of cortical development Component of the following Super Panels: - Cerebral malformation Signed-off version 6.3	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Muscular dystrophy, congenital, merosin deficient or partially deficient OMIM:607855