Genomics England

spectrin beta, non-erythrocytic 4

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Congenital myopathy Component of the following Super Panels: - Hypotonic infant - Other rare neuromuscular disorders R-numbers: R81 Signed-off version 4.42	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.15	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 5.16	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519
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 Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519