SPTAN1

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

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Green SPTAN1 in Cerebral Palsy Level 2: Neurology and neurodevelopmental disorders Version 1.405	2 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature 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 Mendeliome Version 1.3795	4 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477 Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528 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 1.307 Component of the following Super Panels: Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Australian Genomics Health Alliance Epilepsy Flagship Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477
Amber SPTAN1 in Callosome Level 2: Neurology and neurodevelopmental disorders Version 0.578	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Victorian Clinical Genetics Services Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477
Green SPTAN1 in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.497	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477
Green SPTAN1 in Ataxia Level 2: Neurology and neurodevelopmental disorders Version 1.158 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature 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 1.129 Component of the following Super Panels: Neuromuscular Superpanel Progressive Neurological Conditions	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Literature 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 1.68 Component of the following Super Panels: Hereditary Neuropathy_CMT_IsolatedAndComplex Neuromuscular Superpanel Progressive Neurological Conditions	3 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature 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 1.63 Component of the following Super Panels: Myopathy Superpanel Neuromuscular Superpanel Progressive Neurological Conditions	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Phenotypes distal myopathy MONDO:0018949
Red SPTAN1 in Fetal anomalies Version 1.481	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Genomics England PanelApp Genetic Health Queensland Phenotypes Developmental and epileptic encephalopathy 5, MIM# 613477