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Bone Marrow Failure

Gene: ERG

Green List (high evidence)
ERG (ERG, ETS transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000157554
EnsemblGeneIds (GRCh37): ENSG00000157554
OMIM: 165080, Gene2Phenotype
ERG is in 3 panels

2 reviews

Hamish Scott (SA Pathology)

Green List (high evidence)

In press in Blood. ETS domain missense mutations are relatively clear if at zero on gNomAD 4.0. De novo mutations are relatively clear. Truncating mutations it depends on where for the moment. The phenotypes are still expanding.
Should be in Medeliome, cancer predisposition, BMF and Lymphedema panels.
Created: 28 Jun 2024, 2:31 a.m. | Last Modified: 28 Jun 2024, 2:31 a.m.
Panel Version: 1.92

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
cytopenia; Thrombocytopenia; MDS; Lymphedema

Variants in this GENE are reported as part of current diagnostic practice

Created: 28 Jun 2024, 2:31 a.m.
Last Modified: 28 Jun 2024, 2:31 a.m.
Panel version: 1.92

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

I don't know

Conference abstract:

15 heterozygous variants in the ERG gene, 13 of which are missense and 2 truncating variants, in 17 individuals with cytopenia and/or HM (mainly myeloid) or lymphoedema. Onset of hematological symptoms ranged from birth to 38 years for truncating and constrained ETS domain variants.
Sources: Literature
Created: 1 Feb 2024, 12:12 a.m. | Last Modified: 1 Feb 2024, 12:13 a.m.
Panel Version: 1.82

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
Myelodysplasia syndrome, MONDO:0018881, ERG-related

Publications

  • https://ash.confex.com/ash/2023/webprogram/Paper191986.html

Created: 1 Feb 2024, 12:12 a.m.
Last Modified: 1 Feb 2024, 12:13 a.m.
Panel version: 1.82

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Myelodysplasia syndrome, MONDO:0018881, ERG-related
OMIM
165080
Clinvar variants
Variants in ERG
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Nov 2024, Gel status: 3

Set publications

Bryony Thompson (Royal Melbourne Hospital)

Publications for gene: ERG were set to https://ash.confex.com/ash/2023/webprogram/Paper191986.html

28 Jun 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: erg has been classified as Green List (High Evidence).

1 Feb 2024, Gel status: 2

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: ERG were changed from https://ash.confex.com/ash/2023/webprogram/Paper191986.html to Myelodysplasia syndrome, MONDO:0018881, ERG-related

1 Feb 2024, Gel status: 2

Set publications

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Publications for gene: ERG were set to

1 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2024, Gel status: 2

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

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

1 Feb 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: ERG was added gene: ERG was added to Bone Marrow Failure. Sources: Literature Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ERG were set to https://ash.confex.com/ash/2023/webprogram/Paper191986.html Review for gene: ERG was set to AMBER