Hereditary spastic paraplegia - childhood onset

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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Biallelic inheritance shows childhood onset. Report of monoallelic inheritance (PMID: 29528531); patients presenting with pure spastic paraplegia with age of onset between 9 and 46 years.
Created: 9 May 2019, 12:58 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Publications

Variants in this GENE are reported as part of current diagnostic practice

Louise Daugherty (Genomics England Curator)

I don't know

Rating and review submitted on behalf of James Polke (Neurogenetics Laboratory,Institute of Neurology, London), on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:54 p.m.

James Polke (Neurogenetics Laboratory, Institute of Neurology, London)

Green List (high evidence)

Victoria: early childhood onset. Present with severe psychomotor retardation. Published in 2 unrelated consanguineous famlies - (presenting in early childhood) associated with delayed motor development, severe intellectual disability and joint contractures. A thin corpus callosum is equally noted on brain magnetic resonance imaging. recently (2018) two families with an autosomal dominant, pure form of HSP caused by a novel ERLIN2 heterozygous missense variant were described PMID:29528531 In Sheffields HSPpanel.
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Spastic paraplegia 18, autosomal recessive, 611225; Spastic paraplegia, autosomal dominant; hereditary spastic paraplegia; neurodegeneration

Arianna Tucci (Genomics England Curator)

Onset of SPG18 in infancy or childhood
Created: 14 Jan 2019, 4:49 p.m.

Details

Mode of Inheritance
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
OMIM
611605
Clinvar variants
Variants in ERLIN2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Set publications

Louise Daugherty (Genomics England Curator)

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

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ERLIN2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERLIN2.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ERLIN2.

3 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Spastic paraplegia, autosomal dominant; Spastic paraplegia 18, autosomal recessive, 611225; hereditary spastic paraplegia; neurodegeneration for gene: ERLIN2 Publications for gene ERLIN2 were changed from 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 to 23109145; 22554690; 23085305; 27824013; 29528531; 23109142; 28832565; 21330303; 23897027; 21796390; 25977983

28 Jan 2019, Gel status: 4

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Arianna Tucci: Onset of SPG18 in infancy or c

19 Dec 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes

Sarah Leigh (Genomics England Curator)

gene: ERLIN2 was added gene: ERLIN2 was added to Hereditary spastic paraplegia - childhood onset. Sources: Radboud University Medical Center, Nijmegen,Expert list,Expert Review Green Mode of inheritance for gene: ERLIN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: ERLIN2 were set to 27824013; 23085305; 21330303; 23109142; 28832565; 23897027; 22554690; 25977983; 23109145; 21796390; 29528531 Phenotypes for gene: ERLIN2 were set to Spastic paraplegia 18, autosomal recessive, 611225; neurodegeneration; hereditary spastic paraplegia; Spastic paraplegia, autosomal dominant