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Adult onset neurodegenerative disorder
Gene: ERLIN1

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Red List (low evidence)

Childhood onset -red
Created: 2 Sep 2019, 4:06 p.m. | Last Modified: 2 Sep 2019, 4:06 p.m.

Panel Version: 1.99

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681

Created: 2 Sep 2019, 4:06 p.m.
Last Modified: 2 Sep 2019, 4:06 p.m.
Panel version: 1.99

Louise Daugherty (Genomics England Curator)

Red List (low evidence)

As discussed with the GMS Neurology Specialist Test Group webex call 11th September 2019: The Specialist Test Group all agreed that there is only enough evidence to rate this gene Red
Created: 20 Sep 2019, 4:19 p.m. | Last Modified: 20 Sep 2019, 4:19 p.m.

Panel Version: 1.106

Review and rating from Tracy Lester (Oxford Medical Genetics Laboratories Oxford University Hospitals NHS Foundation Trust) on behalf of Wessex and West Midlands GLH for GMS Neurology specialist test group. All the green and amber, except for the genes with triplet repeats, were reviewed.
Created: 2 Sep 2019, 4:46 p.m. | Last Modified: 2 Sep 2019, 4:46 p.m.

Panel Version: 1.101

Review and rating submitted by Nick Beauchamp (Sheffield Diagnostic genetics Service), on behalf of Yorkshire and North East GLH for GMS Neurology specialist test group.
Created: 23 Jul 2019, 3:51 p.m. | Last Modified: 23 Jul 2019, 3:51 p.m.

Panel Version: 1.74

Created: 23 Jul 2019, 3:51 p.m.
Last Modified: 23 Jul 2019, 3:51 p.m.
Panel version: 1.106

Nick Beauchamp (Sheffield Diagnostic Genetics Service)

Red List (low evidence)

Spastic paraplegia phenotype
Created: 23 Jul 2019, 3:35 p.m. | Last Modified: 23 Jul 2019, 3:35 p.m.

Panel Version: 1.72

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681

Created: 23 Jul 2019, 3:35 p.m.
Last Modified: 23 Jul 2019, 3:35 p.m.
Panel version: 1.72

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, 9:44 a.m.

Comment on list classification: Updated rating from Grey to Red, to include gene on merged panel. Gene still requires review/curator evaluation for a final rating.
Created: 20 Dec 2018, 3:12 p.m.

Gene awaiting curator evaluation on the Hereditary spastic paraplegia v1.128 panel. Gene was added to the HSP panel and rated Green by Alistair Pagnamenta.
Created: 20 Dec 2018, 10:30 a.m.

Created: 20 Dec 2018, 10:30 a.m.

Panel version: 0.27

Details

Mode of Inheritance

BIALLELIC, autosomal or pseudoautosomal

Sources

Expert Review Red
Wessex and West Midlands GLH
NHS GMS
Yorkshire and North East GLH
Expert list

Phenotypes

Hereditary spastic paraplegia
Spastic paraplegia 62, 615681

OMIM

611604

Clinvar variants

Variants in ERLIN1

Penetrance

None

Publications

24482476

Panels with this gene

History Filter Activity

20 Sep 2019, Gel status: 1

Added New Source, Status Update

Louise Daugherty (Genomics England Curator)

Source Expert Review Red was added to ERLIN1. Rating Changed from Green List (high evidence) to Red List (low evidence)

2 Sep 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Wessex and West Midlands GLH was added to ERLIN1.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source NHS GMS was added to ERLIN1.

23 Jul 2019, Gel status: 3

Added New Source

Louise Daugherty (Genomics England Curator)

Source Yorkshire and North East GLH was added to ERLIN1.

25 Jan 2019, Gel status: 3

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

Rebecca Foulger: Gene awaiting curator evaluati

14 Jan 2019, Gel status: 3