Genomics England

spectrin beta, non-erythrocytic 2

Panel	Mode of inheritance	Details
Filter panels4 panels
Green in Ataxia and cerebellar anomalies - narrow panel Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies - childhood onset Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 5, OMIM:600224, Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes SCA14, Infantile ataxia with oculomotor and pyramidal signs
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 5, OMIM:600224, Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386
Green in Intellectual disability Component of the following Super Panels: - Childhood onset leukodystrophy - Hypotonic infant - Paediatric disorders R-numbers: R29 Signed-off version 6.13	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 14, OMIM:615386