ERLIN2

ER lipid raft associated 2
OMIM: 611605
PanelMode of inheritanceDetails
3 panels
R-numbers: R60
Signed-off version 1.27
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, autosomal dominant, neurodegeneration., Spastic paraplegia 18, autosomal recessive, 611225, hereditary spastic paraplegia
R-numbers: R61
Signed-off version 2.18
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, autosomal dominant, Spastic paraplegia 18, autosomal recessive, 611225, hereditary spastic paraplegia, neurodegeneration
Component of the following Super Panels:
  • - Hypotonic infant
  • - Paediatric disorders
  • - White matter disorders - childhood onset
R-numbers: R29
Signed-off version 3.2
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 18, autosomal recessive, 611225, intellectual disability, AUTOSOMAL RECESSIVE MENTAL RETARDATION