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  3. ERLIN1
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Motor Neurone Disease

Gene: ERLIN1

Red List (low evidence)
ERLIN1 (ER lipid raft associated 1)
EnsemblGeneIds (GRCh38): ENSG00000107566
EnsemblGeneIds (GRCh37): ENSG00000107566
OMIM: 611604, Gene2Phenotype
ERLIN1 is in 3 panels

1 review

Bryony Thompson (Royal Melbourne Hospital)

Red List (low evidence)

Homozygous varinat segregates with ALS in a single family
Sources: Expert list
Created: 31 Mar 2020, 7:38 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Amyotrophic lateral sclerosis

Publications

Created: 31 Mar 2020, 7:38 a.m.

Panel version: 0.18

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
OMIM
611604
Clinvar variants
Variants in ERLIN1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Aug 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

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

31 Mar 2020, Gel status: 1

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

Bryony Thompson (Royal Melbourne Hospital)

gene: ERLIN1 was added gene: ERLIN1 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: ERLIN1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ERLIN1 were set to 29453415 Phenotypes for gene: ERLIN1 were set to Amyotrophic lateral sclerosis Review for gene: ERLIN1 was set to RED