SPTAN1

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

10 panels

Panel Reviews Mode of inheritance Details
10 panels
Green SPTAN1 in Ataxia and cerebellar anomalies - narrow panel


Version 4.56
Latest signed off version: v4.0 (22 Mar 2023)

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 and epileptic encephalopathy, 5, MONDO:0013277
    Green SPTAN1 in Childhood onset hereditary spastic paraplegia


    Version 4.39
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 5, OMIM:613477
    • developmental and epileptic encephalopathy, 5, MONDO:0013277
    Green SPTAN1 in Adult onset hereditary spastic paraplegia


    Version 3.21
    Latest signed off version: v3.14 (31 Jul 2023)

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 5, OMIM:613477
    • developmental and epileptic encephalopathy, 5, MONDO:0013277
    Amber SPTAN1 in Fetal anomalies


    Version 3.136
    Latest signed off version: v3.0 (22 Mar 2023)

    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 3.79
    Latest signed off version: v3.1 (22 Mar 2023)

    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 3: Inherited Epilepsy Syndromes
    Level 2: Neurology and neurodevelopmental disorders
    Version 4.173
    Latest signed off version: v4.0 (22 Mar 2023)

    Component of the following Super Panels:

  • 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 and epileptic encephalopathy, 5, MONDO:0013277
    Green SPTAN1 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.472
    Latest signed off version: v5.0 (22 Mar 2023)

    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 and epileptic encephalopathy, 5, MONDO:0013277
    Green SPTAN1 in Hereditary ataxia with onset in adulthood


    Version 4.30
    Latest signed off version: v4.0 (22 Mar 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • NHS GMS
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 5, OMIM:613477
    • developmental and epileptic encephalopathy, 5, MONDO:0013277
    Amber SPTAN1 in Hereditary neuropathy or pain disorder


    Version 3.83
    Latest signed off version: v3.24 (15 May 2023)

    review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Amber
    • Literature
    Phenotypes
    • Developmental and epileptic encephalopathy 5, OMIM:613477
    • developmental and epileptic encephalopathy, 5, MONDO:0013277
    Tags
    • Q3_23_promote_green
    Green SPTAN1 in Severe Paediatric Disorders


    Version 1.182

    review MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Developmental and epileptic encephalopathy 5, OMIM:613477
    • developmental and epileptic encephalopathy, 5, MONDO:0013277