SPTAN1:Ensemblv115

spectrin alpha, non-erythrocytic 1
OMIM: 182810, ClinGen, DECIPHER

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green SPTAN1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Developmental and epileptic encephalopathy 5 OMIM #613477 Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538
Green SPTAN1 in Genetic Epilepsy Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Australian Genomics Health Alliance Epilepsy Flagship Victorian Clinical Genetics Services Expert Review Green Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477
Green SPTAN1 in Ataxia - adult onset Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
Green SPTAN1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia MONDO:0957813
Green SPTAN1 in Hereditary Spastic Paraplegia Level 2: Neurology and neurodevelopmental disorders Version 2.0	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Literature Expert Review Green Phenotypes Spastic Paraplegia MONDO:0019064, SPTAN1-related Autosomal dominant spastic paraplegia-91, with or without cerebellar ataxia (SPG91), MIM#620538
Green SPTAN1 in Hereditary Neuropathy_CMT - isolated Level 2: Neurology and neurodevelopmental disorders Version 2.0	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528
Green SPTAN1 in Limb-Girdle Muscular Dystrophy and Distal Myopathy Level 2: Neurology and neurodevelopmental disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Literature Expert Review Green Phenotypes distal myopathy MONDO:0018949