Hereditary spastic paraplegia

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

3 reviews

Rebecca Foulger (Genomics England curator)

Comment on list classification: Updated rating from Amber to Green after clinical advice from Helen Brittain, who notes that "the phenotype is certainly appropriate, it meets our guidance on number of unrelated families and >1 variant therefore it seems appropriate for a green rating. Re the nomenclature: (6-bp deletion, c.862_868delACCAGG) c.862_868del would usually indicate that 862-868 inclusive is deleted which would be 7bp... However they then wrote 6 nucleotides afterwards. If it is 6bp deleted it could be in frame (they have indicated deletion YQ) so I am not sure. On balance I think it is worth including."
Created: 14 Jan 2019, 9:43 a.m.
Comment on list classification: Updated rating from Green to Amber awaiting further clinical review. A note of caution: OMIM states that in the article by Novarino et al. (2014), the nomenclature for the mutation in family 1598 was inconsistent, i.e., a 6-bp deletion, c.862_868delACCAGG.
Created: 8 Jan 2019, 4:45 p.m.
Comment on list classification: Updated rating from Red to Green based on expert review and literature evidence. Gene added to panel and rated green by Alistair Pagnamenta (University of Oxford) based on PMID:24482476 which identified 7 HSP individuals from 3 families with homozygous variants in ERLIN1. Full phenotypes of affected individuals are supplied in the supplementary material.
Created: 8 Jan 2019, 2:16 p.m.
PMID:24482476 (Novarino et al 2014) identified 18 previously unknown putative HSP genes. 7 individuals from 3 families (Family 786, 1098 and 1598) had homozygous variants in ERLIN1: c.C763T/p. R255X, c.G149T/p.G50V and c.862_868delACCAGG/p.del203-204YQ.
Created: 8 Jan 2019, 2:12 p.m.

Sarah Leigh (Genomics England Curator)

Comment on list classification: This gene is awaiting curator evaluation and rating.
Created: 19 Dec 2018, 2:11 p.m.

Alistair Pagnamenta (University of Oxford)

Green List (high evidence)

Novarino et al (2014) reported 7 affected individuals from 3 different consanguineous families had homozygous variants in this gene co-segregating consistent with an AR mode of inheritance. In the first of these families, significant evidence for genetic linkage was identified on 10q (pLOD >3.0) and this region harboured p.R255X (see PMID: 24482476)
Created: 22 Nov 2018, 2:53 p.m.
Sources: Other
Created: 22 Nov 2018, 2:40 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Hereditary spastic paraplegia

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
Phenotypes
  • Hereditary spastic paraplegia
  • Spastic paraplegia 62, 615681
OMIM
611604
Clinvar variants
Variants in ERLIN1
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

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: 2

Entity classified by Genomics England curator

Rebecca Foulger (Genomics England curator)

Gene: erlin1 has been classified as Amber List (Moderate Evidence).

8 Jan 2019, Gel status: 3

Set Phenotypes

Rebecca Foulger (Genomics England curator)

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

8 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).

19 Dec 2018, Gel status: 1

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: erlin1 has been classified as Red List (Low Evidence).

4 Dec 2018, Gel status: 0

Set publications

Rebecca Foulger (Genomics England curator)

Publications for gene: ERLIN1 were set to PMID: 24482476

22 Nov 2018, Gel status: 0

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

Alistair Pagnamenta (University of Oxford)

gene: ERLIN1 was added gene: ERLIN1 was added to Hereditary spastic paraplegia. Sources: Other Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN1 were set to PMID: 24482476 Phenotypes for gene: ERLIN1 were set to Hereditary spastic paraplegia Penetrance for gene: ERLIN1 were set to unknown Review for gene: ERLIN1 was set to GREEN