SPTAN1

spectrin alpha, non-erythrocytic 1
OMIM: 182810, Gene2Phenotype

10 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 10 panels
Amber SPTAN1 in Distal myopathies Level 2: Neurology Version 6.16 Latest signed off version: v6.4 (30 Apr 2025) Component of the following Super Panels: Hypotonic infant Other rare neuromuscular disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Literature Phenotypes distal myopathy, MONDO:0018949 Tags Q1_26_promote_green
Green SPTAN1 in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature 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 SPTAN1 in Childhood onset hereditary spastic paraplegia Level 2: Neurology Version 8.30 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources NHS GMS Expert Review Green Literature 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 Tags watchlist_moi
Green SPTAN1 in Adult onset hereditary spastic paraplegia Level 2: Neurology Version 6.7 Latest signed off version: v6.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Literature 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
Amber SPTAN1 in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber PAGE DD-Gene2Phenotype Phenotypes Developmental and epileptic encephalopathy 5, OMIM:613477 developmental and epileptic encephalopathy, 5, MONDO:0013277
Green SPTAN1 in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5 613477
Green SPTAN1 in Early onset or syndromic epilepsy Level 2: Neurology Version 8.125 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders Unexplained death in infancy and sudden unexplained death in childhood	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Wessex and West Midlands GLH NHS GMS NIHRBR-RD Consortium SPEED_v3.0_20170404 Victorian Clinical Genetics Services Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen UKGTN Expert Expert Review Green 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 SPTAN1 in Intellectual disability Level 2: Developmental disorders Version 9.285 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Radboud University Medical Center, Nijmegen 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 SPTAN1 in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature 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 SPTAN1 in Hereditary neuropathy or pain disorder Level 2: Neurology Version 7.36 Latest signed off version: v7.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green NHS GMS Literature Phenotypes Neuronopathy, distal hereditary motor, autosomal dominant 11, OMIM:620528 Spastic paraplegia 91, autosomal dominant, with or without cerebellar ataxia, OMIM:620538