Genomics England
GMS Panels
Panels
Genes and Entities

ERLIN2

ER lipid raft associated 2
OMIM: 611605
PanelMode of inheritanceDetails
3 panels
Green
in Adult onset hereditary spastic paraplegia
R-numbers: R60
Signed-off version 5.0
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, autosomal dominant, neurodegeneration., Spastic paraplegia 18, autosomal recessive, 611225, hereditary spastic paraplegia
Green
in Childhood onset hereditary spastic paraplegia
R-numbers: R61
Signed-off version 6.4
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia, autosomal dominant, Spastic paraplegia 18, autosomal recessive, 611225, hereditary spastic paraplegia, neurodegeneration
Green
in Intellectual disability
Component of the following Super Panels:
  • - Childhood onset leukodystrophy
  • - Hypotonic infant
  • - Paediatric disorders
R-numbers: R29
Signed-off version 7.51
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Spastic paraplegia 18, autosomal recessive, 611225, intellectual disability, AUTOSOMAL RECESSIVE MENTAL RETARDATION