ERLIN1

ER lipid raft associated 1
OMIM: 611604, Gene2Phenotype

5 panels

Panel Reviews Mode of inheritance Details
5 panels
Green ERLIN1 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 Green
  • Other
Phenotypes
  • Hereditary spastic paraplegia
  • Spastic paraplegia 62, 615681
Green ERLIN1 in Childhood onset hereditary spastic paraplegia


Version 4.42
Latest signed off version: v4.0 (22 Mar 2023)

review BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • NHS GMS
  • London North GLH
  • Expert Review Green
  • Other
Phenotypes
  • Hereditary spastic paraplegia
  • Spastic paraplegia 62, 615681
Amber ERLIN1 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
  • Hereditary spastic paraplegia
  • Spastic paraplegia 62, 615681
Red ERLIN1 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
  • Wessex and West Midlands GLH
  • NHS GMS
  • Yorkshire and North East GLH
  • Expert list
Phenotypes
  • Hereditary spastic paraplegia
  • Spastic paraplegia 62, 615681
Green ERLIN1 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 62, 615681