Adult onset hereditary spastic paraplegia
Gene: ERLIN1The rating of this gene has been updated following NHS Genomic Medicine Service approval.Created: 14 Mar 2022, 1:19 p.m. | Last Modified: 14 Mar 2022, 1:19 p.m.
Panel Version: 1.95
Review of literature did not reveal any adult onset cases - 3 families reported (PMID: 24482476), all childhood onset.
The 'Q3_21_phenotype' tag has been added to highlight that this is a childhood onset condition. Leaving the rating as Green, but with a recommendation for review at the next GMS panel update. This gene is already Green on the 'Hereditary spastic paraplegia - childhood onset v.2.18' panel.Created: 17 Aug 2021, 11:06 a.m. | Last Modified: 17 Aug 2021, 11:06 a.m.
Panel Version: 1.35
Childhood onset.Created: 20 Sep 2020, 8:17 a.m. | Last Modified: 20 Sep 2020, 8:17 a.m.
Panel Version: 1.7
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
Already Green on HSP panelCreated: 27 Apr 2019, 4:17 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Publications
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.
7 individuals from 3 families consanguineous families with spastic paraplegia 62 reported. In sheffields HSP panelCreated: 25 Apr 2019, 1:22 p.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Hereditary spastic paraplegia; Spastic paraplegia 62, 615681
Tag Q3_21_phenotype was removed from gene: ERLIN1.
Source Expert Review Amber was added to ERLIN1. Rating Changed from Green List (high evidence) to Amber List (moderate evidence)
Tag Q3_21_phenotype tag was added to gene: ERLIN1.
Source Yorkshire and North East GLH was added to ERLIN1.
Added phenotypes Hereditary spastic paraplegia; Spastic paraplegia 62, 615681 for gene: ERLIN1 Publications for gene ERLIN1 were changed from to 24482476
Source South West GLH was added to ERLIN1.
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)
Source NHS GMS was added to ERLIN1.
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