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  3. EWSR1
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Motor Neurone Disease

Gene: EWSR1

Red List (low evidence)
EWSR1 (EWS RNA binding protein 1)
EnsemblGeneIds (GRCh38): ENSG00000182944
EnsemblGeneIds (GRCh37): ENSG00000182944
OMIM: 133450, Gene2Phenotype
EWSR1 is in 3 panels

2 reviews

Seb Lunke (Victorian Clinical Genetics Services)

I don't know

Mouse model and 2 missense reported in 2 ALS cases, but no other reports in ALS cases since 2012.

Association with sarcomas based on known fusion events, somatic only.
Created: 9 Jun 2020, 3:07 a.m. | Last Modified: 9 Jun 2020, 3:07 a.m.
Panel Version: 0.3040

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis

Publications

Created: 9 Jun 2020, 3:07 a.m.
Last Modified: 9 Jun 2020, 3:07 a.m.
Panel version: Imported from Mendeliome panel version 0.3040

Bryony Thompson (Royal Melbourne Hospital)

I don't know

Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022
Created: 22 Jun 2023, 12:37 a.m. | Last Modified: 22 Jun 2023, 12:37 a.m.
Panel Version: 0.178
Mouse model and 2 missense reported in 2 ALS cases, but no other reports in ALS cases since 2012
Sources: Expert list
Created: 31 Mar 2020, 7:47 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Amyotrophic lateral sclerosis

Publications

Created: 31 Mar 2020, 7:47 a.m.

Panel version: 0.19

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Expert list
Phenotypes
  • Amyotrophic lateral sclerosis
OMIM
133450
Clinvar variants
Variants in EWSR1
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: ewsr1 has been classified as Red List (Low Evidence).

22 Jun 2023, Gel status: 1

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ewsr1 has been classified as Red List (Low Evidence).

31 Mar 2020, Gel status: 2

Entity classified by Genomics England curator

Bryony Thompson (Royal Melbourne Hospital)

Gene: ewsr1 has been classified as Amber List (Moderate 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: EWSR1 was added gene: EWSR1 was added to Motor Neuron Disease. Sources: Expert list Mode of inheritance for gene: EWSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EWSR1 were set to 29731676; 22454397 Phenotypes for gene: EWSR1 were set to Amyotrophic lateral sclerosis Review for gene: EWSR1 was set to AMBER