Genomics England

SPTAN1

spectrin alpha, non-erythrocytic 1

Panel	Mode of inheritance	Details
Filter panels8 panels
Green in Adult onset hereditary spastic paraplegia R-numbers: R60 Signed-off version 4.4	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
Green in Childhood onset hereditary spastic paraplegia R-numbers: R61 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
Green in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 4.3	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 R-numbers: R59 Signed-off version 5.10	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
Green in Hereditary ataxia with onset in adulthood R-numbers: R54 Signed-off version 5.3	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
Green in Hereditary neuropathy or pain disorder R-numbers: R78 Signed-off version 4.11	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277
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	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477, developmental and epileptic encephalopathy, 5, MONDO:0013277