TECPR2

tectonin beta-propeller repeat containing 2
OMIM: 615000, Gene2Phenotype

11 panels

Panel Reviews Mode of inheritance Details
11 panels
Red TECPR2 in Familial dysautonomia


Version 1.17

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia 49, autosomal recessive 615031
Green TECPR2 in Ataxia and cerebellar anomalies - narrow panel


Version 4.64
Latest signed off version: v4.0 (22 Mar 2023)

Component of the following Super Panels:

  • Hereditary ataxia and cerebellar anomalies - childhood onset
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
    Red TECPR2 in Hereditary spastic paraplegia

    Level 3: Motor Disorders of the CNS
    Level 2: Neurology and neurodevelopmental disorders
    Version 1.311

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 49, autosomal recessive, 615031
    Green TECPR2 in Childhood onset hereditary spastic paraplegia


    Version 4.43
    Latest signed off version: v4.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Yorkshire and North East GLH
    • NHS GMS
    • London North GLH
    • Expert list
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
    Amber TECPR2 in Adult onset hereditary spastic paraplegia


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

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • Yorkshire and North East GLH
    • South West GLH
    • NHS GMS
    • London North GLH
    Phenotypes
    • Spastic paraplegia 49, autosomal recessive, 615031
    • Spastic paraplegia 49, autosomal recessive,615031, AR
    Red TECPR2 in Adult onset neurodegenerative disorder


    Version 4.47
    Latest signed off version: v4.34 (31 Jul 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    Phenotypes
    • Spastic paraplegia 49, autosomal recessive, 615031
    Amber TECPR2 in Fetal anomalies


    Version 3.157
    Latest signed off version: v3.0 (22 Mar 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Amber
    • PAGE DD-Gene2Phenotype
    Phenotypes
    • HEREDITARY SPASTIC PARAPARESIS
    Green TECPR2 in DDG2P


    Version 3.87
    Latest signed off version: v3.1 (22 Mar 2023)

    Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • DD-Gene2Phenotype
    Phenotypes
    • HEREDITARY SPASTIC PARAPARESIS 615031
    Green TECPR2 in Intellectual disability - microarray and sequencing

    Level 3: Neurodevelopmental disorders
    Level 2: Neurology and neurodevelopmental disorders
    Version 5.536
    Latest signed off version: v5.0 (22 Mar 2023)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert Review Green
    Phenotypes
    • Spastic paraplegia 49, autosomal recessive, 615031
    Green TECPR2 in Hereditary neuropathy or pain disorder


    Version 3.94
    Latest signed off version: v3.24 (15 May 2023)

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • NHS GMS
    • Expert Review Green
    • Literature
    Phenotypes
    • Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, OMIM:615031
    Green TECPR2 in Severe Paediatric Disorders


    Version 1.184

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Next Generation Children Project
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 49, autosomal recessive, 615031