Genomics England

BICD2

BICD cargo adaptor 2

Panel	Mode of inheritance	Details
Filter panels5 panels
Green in Arthrogryposis R-numbers: R83 Signed-off version 5.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes arthrogryposis multiplex congenita, Spinal muscular atrophy, lower extremity-predominant, 2A, 615290, autosomal dominant, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 3.1	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE
Green in Fetal anomalies R-numbers: R21, R412 Signed-off version 3.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes PROXIMAL SPINAL MUSCULAR ATROPHY WITH AUTOSOMAL-DOMINANT INHERITANCE, Spinal muscular atrophy, lower extremity-predominant, 2B, autosomal dominant, 618291, arthrogryposis multiplex congenita (AMC), reduced fetal movements, hydrops fetalis, Pterygium
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 3.24	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2, AD, 615290
Green in Paediatric motor neuronopathies Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders Signed-off version 3.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Spinal muscular atrophy, lower extremity-predominant, 2A, autosomal dominant, OMIM:615290