Hereditary spastic paraplegia

Gene: ERLIN2

Green List (high evidence)

ERLIN2 (ER lipid raft associated 2)
EnsemblGeneIds (GRCh38): ENSG00000147475
EnsemblGeneIds (GRCh37): ENSG00000147475
OMIM: 611605, Gene2Phenotype
ERLIN2 is in 6 panels

1 review

Louise Daugherty (Genomics England Curator)

Comment on list classification: Changed from Red to Green added publications that support gene-disease association
Created: 10 Aug 2018, 3:49 p.m.
Comment on phenotypes: added Spastic paraplegia autosomal dominant and hereditary spastic paraplegia; neurodegeneration; as there has recently been reported monoallelic cases PMID:29528531
Created: 10 Aug 2018, 3:25 p.m.
Comment on mode of inheritance: Changed to BOTH monoallelic and biallelic : Biallelic variants in ERLIN2 are known to cause recessive HSP type SPG18 (PMID:21330303, 21796390, 23085305) but recently (2018) two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant were described PMID:29528531
Created: 10 Aug 2018, 3:21 p.m.
Comment on publications: added publications to support Hereditary spastic paraplegia (HSP) phenotype - initial candidate gene case described in PMID: 21937992 there are more than unrelated families who have been reported on inactivating ERLIN2 mutations in patients with recessive intellectual disability and progressive motor dysfunction PMID: 21330303, PMID: 21796390; 23085305 (biallelic). More recently individuals have been described with dominant pure hereditary spastic paraplegia PMID: 29528531; 28832565 (monoallelic), adding to the repertoire of ERLIN2 known to be able to cause both AD and AR Hereditary spastic paraplegia. The findings expand the mutational and inheritance spectrum of Spastic paraplegia 18, autosomal recessive (SPG18), and has important implications for genetic counselling
Created: 10 Aug 2018, 2:29 p.m.

Details

Mode of Inheritance
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
OMIM
611605
Clinvar variants
Variants in ERLIN2
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

10 Aug 2018, Gel status: 3

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration

10 Aug 2018, Gel status: 3

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: erlin2 has been classified as Green List (High Evidence).

10 Aug 2018, Gel status: 1

Set Phenotypes

Louise Daugherty (Genomics England Curator)

Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia autosomal dominant; Intellectual disability; hereditary spastic paraplegia; neurodegeneration

10 Aug 2018, Gel status: 1

Set mode of inheritance

Louise Daugherty (Genomics England Curator)

Mode of inheritance for gene: ERLIN2 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

10 Aug 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ERLIN2 were set to 27824013; 25977983; 23897027; 23109145; 23109142; 23085305; 21796390; 21330303; 22554690; 29528531; 28832565

10 Aug 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ERLIN2 were set to 27824013; 25977983; 23897027; 23109145; 23109142; 23085305; 22554690; 21796390; 21330303; 22554690; 29528531; 28832565

10 Aug 2018, Gel status: 1

Set publications

Louise Daugherty (Genomics England Curator)

Publications for gene: ERLIN2 were set to 27824013; 25977983; 23897027; 23109145; 23109142; 23085305; 22554690; 21796390; 21330303; 22554690; 29528531

9 Mar 2016, Gel status: 1

Gene classified by Genomics England curator

emma baple (Genomics England Curator)

This gene has been classified as Red List (Low Evidence).

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene ERLIN2 was changed to BIALLELIC, autosomal or pseudoautosomal

20 Jul 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

ERLIN2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen

20 Jul 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

ERLIN2 was added to Hereditary spastic paraplegiapanel. Sources: Expert list,Radboud University Medical Center, Nijmegen