Hereditary spastic paraplegia - adult 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

4 reviews

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

I don't know

Childhood onset. Three families reported by Novarino et al with 7 affected. No reports since.
Created: 9 May 2019, 12:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Publications

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

Chris Buxton (North Bristol NHS Trust)

I don't know

Already Green on HSP panel
Created: 27 Apr 2019, 4:17 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681

Publications

Louise Daugherty (Genomics England Curator)

I don't know

Green gene with Amber GLH rating, Gene discussed in view of discrepant rating(s) from GLH(s). Green rating agreed at the GMS Neurology Specialist Test Group Webex on 17th May 2019.
Created: 21 May 2019, 4:14 p.m.
Review and rating submitted byJames Polke (Neurogenetics Laboratory,Institute of Neurology, London), unless specified in the review comment, on behalf of London North GLH for GMS Neurology specialist test group.
Created: 9 May 2019, 4:50 p.m.
Review and rating from Chris Buxton (North Bristol NHS Trust), submitted by Natalie Forrester (SWGLH - Bristol Genetics) on behalf of South West GLH for GMS Neurology specialist test group.
Created: 27 Apr 2019, 4:30 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: 25 Apr 2019, 1:22 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Yorkshire and North East GLH
  • South West GLH
  • Expert Review Green
  • NHS GMS
  • London North GLH
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.

27 Apr 2019, Gel status: 4

Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Publications for gene ERLIN1 were changed from to 24482476

27 Apr 2019, Gel status: 4

Added New Source

Louise Daugherty (Genomics England Curator)

Source South West GLH was added to ERLIN1.

25 Apr 2019, Gel status: 3

Added New Source, Set mode of inheritance, Set Phenotypes, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Green was added to ERLIN1. Mode of inheritance for gene ERLIN1 was changed from to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Rating Changed from Red List (low evidence) to Green List (high evidence)

24 Apr 2019, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERLIN1.

24 Apr 2019, Gel status: 1

Created, Added New Source, Set mode of inheritance

Louise Daugherty (Genomics England Curator)

gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary spastic paraplegia - adult onset. Sources: London North GLH Mode of inheritance for gene: ERLIN1 was set to