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Mendeliome

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

Bryony Thompson (Royal Melbourne Hospital)

Comment on list classification: Disputed gene-disease validity assessment by ClinGen ALS spectrum disorders GCEP - 11/10/2022
Created: 22 Jun 2023, 12:36 a.m. | Last Modified: 22 Jun 2023, 12:36 a.m.
Panel Version: 1.945

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

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Red
  • Victorian Clinical Genetics Services
Phenotypes
  • Amyotrophic lateral sclerosis
OMIM
133450
Clinvar variants
Variants in EWSR1
Penetrance
None
Publications
Panels with this gene

History Filter Activity

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).

9 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ewsr1 has been classified as Amber List (Moderate Evidence).

9 Jun 2020, Gel status: 2

Set Phenotypes

Seb Lunke (Victorian Clinical Genetics Services)

Phenotypes for gene: EWSR1 were changed from to Amyotrophic lateral sclerosis

9 Jun 2020, Gel status: 2

Set publications

Seb Lunke (Victorian Clinical Genetics Services)

Publications for gene: EWSR1 were set to

9 Jun 2020, Gel status: 2

Set mode of inheritance

Seb Lunke (Victorian Clinical Genetics Services)

Mode of inheritance for gene: EWSR1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

9 Jun 2020, Gel status: 2

Entity classified by Genomics England curator

Seb Lunke (Victorian Clinical Genetics Services)

Gene: ewsr1 has been classified as Amber List (Moderate Evidence).

17 Nov 2019, Gel status: 3

Created, Added New Source, Set mode of inheritance

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: EWSR1 was added gene: EWSR1 was added to Mendeliome_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: EWSR1 was set to Unknown