Genomics England

SPTBN2

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 2.23	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia 5 (AD), Spinocerebellar ataxia, autosomal recessive 14, SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14, Spinocerebellar Ataxia, Dominant, Spinocerebellar ataxia, autosomal recessive 14 (AR), Spinocerebellar ataxia 5, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant)
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 2.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes SCA14, Infantile ataxia with oculomotor and pyramidal signs
Green in Hereditary ataxia - adult onset R-numbers: R54 Signed-off version 2.13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Spinocerebellar Ataxia, Dominant, Autosomal recessive spinocerebellar ataxia 14, 615386, Spinocerebellar ataxia, autosomal recessive 14, Spinocerebellar ataxia 5, Spinocerebellar ataxia 5, 600224, SPINOCEREBELLAR ATAXIA 5 (autosomal dominant), SPINOCEREBELLAR ATAXIA, AUTOSOMAL RECESSIVE 14
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Paediatric disorders - White matter disorders - childhood onset R-numbers: R29 Signed-off version 3.2	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Spinocerebellar ataxia, autosomal recessive 14, MIM:615386, Developmental delay