Genomics England

SPTAN1

spectrin alpha, non-erythrocytic 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Ataxia and cerebellar anomalies - childhood onset Component of the following Super Panels: - Hereditary ataxia and cerebellar anomalies, childhood onset Signed-off version 9.22	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, Developmental delay with or without epilepsy, OMIM:620540, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 8.0	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477
Green in Early onset or syndromic epilepsy Component of the following Super Panels: - Paediatric disorders - Unexplained death in infancy and sudden unexplained death in childhood Signed-off version 9.56	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, Developmental delay with or without epilepsy, OMIM:620540, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Green in Hereditary ataxia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 9.4	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, Developmental delay with or without epilepsy, OMIM:620540, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 8.30	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Neuronopathy, distal hereditary motor, autosomal dominant 11, OMIM:620528, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Green in Hereditary spastic paraplegia, adult onset Component of the following Super Panels: - Adult-onset neurological disorders Signed-off version 6.13	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, Developmental delay with or without epilepsy, OMIM:620540, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Green in Hereditary spastic paraplegia, childhood onset R-numbers: R61 Signed-off version 9.7	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, Developmental delay with or without epilepsy, OMIM:620540, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538
Green in Intellectual disability Component of the following Super Panels: - Hypotonic infant - Leukodystrophy, childhood onset - Paediatric disorders Signed-off version 11.0	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, Developmental delay with or without epilepsy, OMIM:620540, Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538