ERLIN2

ER lipid raft associated 2
OMIM: 611605, Gene2Phenotype

6 panels

Panel Reviews Mode of inheritance Details
6 panels
Green ERLIN2 in Hereditary spastic paraplegia

Level 3: Motor Disorders of the CNS
Level 2: Neurology and neurodevelopmental disorders
Version 1.316

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Radboud University Medical Center, Nijmegen
  • Expert list
Phenotypes
  • Spastic paraplegia 18, autosomal recessive, 611225
  • Spastic paraplegia, autosomal dominant
  • hereditary spastic paraplegia
  • neurodegeneration
Green ERLIN2 in Childhood onset hereditary spastic paraplegia


Level 2: Neurology
Version 8.42
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Expert list
  • Radboud University Medical Center, Nijmegen
Phenotypes
  • Spastic paraplegia, autosomal dominant
  • Spastic paraplegia 18, autosomal recessive, 611225
  • hereditary spastic paraplegia
  • neurodegeneration
Green ERLIN2 in Adult onset hereditary spastic paraplegia


Level 2: Neurology
Version 6.9
Latest signed off version: v6.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
Phenotypes
  • Spastic paraplegia, autosomal dominant
  • neurodegeneration.
  • Spastic paraplegia 18, autosomal recessive, 611225
  • hereditary spastic paraplegia
Red ERLIN2 in Adult onset neurodegenerative disorder


Level 2: Neurology
Version 8.20
Latest signed off version: v8.0 (30 Apr 2025)

review BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Wessex and West Midlands GLH
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
Phenotypes
  • neurodegeneration
  • hereditary spastic paraplegia
  • Spastic paraplegia 18, autosomal recessive, 611225
  • Spastic paraplegia, autosomal dominant
Red ERLIN2 in DDG2P


Version 6.447
Latest signed off version: v6.0 (30 Apr 2025)

Component of the following Super Panels:

  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • DD-Gene2Phenotype
    • Expert Review Red
    Phenotypes
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION
    Green ERLIN2 in Intellectual disability


    Level 2: Developmental disorders
    Version 9.345
    Latest signed off version: v9.0 (30 Apr 2025)

    Component of the following Super Panels:

  • Childhood onset leukodystrophy
  • Hypotonic infant
  • Paediatric disorders
  • review BIALLELIC, autosomal or pseudoautosomal
    Sources
    • Expert Review Green
    • Radboud University Medical Center, Nijmegen
    Phenotypes
    • Spastic paraplegia 18, autosomal recessive, 611225
    • intellectual disability
    • AUTOSOMAL RECESSIVE MENTAL RETARDATION