ERLIN2

ER lipid raft associated 2
OMIM: 611605, Gene2Phenotype

7 panels

Panel Reviews Mode of inheritance Details
7 panels

Green ERLIN2 in Motor Neurone Disease


Level 2: Neurology and neurodevelopmental disorders
Version 1.33

Component of the following Super Panels:

  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Literature
    Phenotypes
    • hereditary spastic paraplegia 18 MONDO:0012639

    Red ERLIN2 in Cerebral Palsy


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.389

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Red
    • Literature
    Phenotypes
    • Spastic paraplegia 18A, autosomal dominant, MIM#620512
    • Spastic paraplegia 18B, autosomal recessive, MIM#611225

    Green ERLIN2 in Mendeliome


    Version 1.2512

    review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Victorian Clinical Genetics Services
    Phenotypes
    • Spastic paraplegia 18, autosomal recessive, MIM# 611225
    • Spastic paraplegia 18A, autosomal dominant, MIM# 620512

    Green ERLIN2 in Callosome


    Level 2: Neurology and neurodevelopmental disorders
    Version 0.542

    review Unknown
    Sources
    • Victorian Clinical Genetics Services
    • Expert Review Green

    Green ERLIN2 in Intellectual disability syndromic and non-syndromic


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.117

    review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Genetic Health Queensland
    Phenotypes
    • Spastic paraplegia 18, autosomal recessive, MIM#611225

    Green ERLIN2 in Hereditary Spastic Paraplegia - adult onset


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.13

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neurodegenerative disease - adult onset
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
    Sources
    • Expert Review Green
    • Expert list
    • Royal Melbourne Hospital
    Phenotypes
    • Spastic paraplegia 18, autosomal recessive, MIM# 611225
    • Spastic paraplegia 18A, autosomal dominant, MIM# 620512

    Green ERLIN2 in Hereditary Spastic Paraplegia - paediatric


    Level 2: Neurology and neurodevelopmental disorders
    Version 1.90

    Component of the following Super Panels:

  • Hereditary Spastic Paraplegia Superpanel
  • Neuromuscular Superpanel
  • Progressive Neurological Conditions
  • review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Expert list
    Phenotypes
    • Spastic paraplegia 18, autosomal recessive, MIM# 611225
    • Spastic paraplegia 18A, autosomal dominant, MIM# 620512