Hereditary spastic paraplegia - childhood onset

Gene: ERLIN1

Green List (high evidence)

ERLIN1 (ER lipid raft associated 1)
EnsemblGeneIds (GRCh38): ENSG00000107566
EnsemblGeneIds (GRCh37): ENSG00000107566
OMIM: 611604, Gene2Phenotype
ERLIN1 is in 4 panels

5 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Green List (high evidence)

Childhood onset. Three families reported by Novarino et al with 7 affected. No reports since.
Created: 9 May 2019, 12:16 p.m.

Mode of inheritance
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)

7 individuals from 3 families consanguineous families with spastic paraplegia 62 reported. In sheffields HSP panel
Created: 28 Apr 2019, 4:16 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681

Arianna Tucci (Genomics England Curator)

Onset in childhood
Created: 25 Feb 2019, 11:34 a.m.

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Red to Green following review on the Hereditary spastic paraplegia panel.
Created: 14 Jan 2019, 9:55 a.m.

Details

Mode of Inheritance
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
OMIM
611604
Clinvar variants
Variants in ERLIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

13 May 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ERLIN1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERLIN1.

28 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source London North GLH was added to ERLIN1.

3 Apr 2019, Gel status: 3

Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Rating Changed from Green List (high evidence) to Green List (high evidence)

28 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Comment on list classification

14 Jan 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia - childhood onset to Hereditary spastic paraplegia; Spastic paraplegia 62, 615681

14 Jan 2019, Gel status: 3

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: erlin1 has been classified as Green List (High Evidence).

8 Jan 2019, Gel status: 1

Set Phenotypes

Rebecca Foulger (Genomics England curator)

Phenotypes for gene: ERLIN1 were changed from Hereditary spastic paraplegia to Hereditary spastic paraplegia - childhood onset

19 Dec 2018, Gel status: 1

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

Sarah Leigh (Genomics England Curator)

gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary spastic paraplegia - childhood onset. Sources: Other,Expert Review Red Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN1 were set to 24482476 Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia