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  3. ERG
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Primary lymphoedema

Gene: ERG

Green List (high evidence)
ERG (ERG, ETS transcription factor)
EnsemblGeneIds (GRCh38): ENSG00000157554
EnsemblGeneIds (GRCh37): ENSG00000157554
OMIM: 165080, Gene2Phenotype
ERG is in 2 panels

4 reviews

Pia Ostergaard (St George's)

Green List (high evidence)

https://doi.org/10.1101/2025.03.10.25323421
We are reporting ERG LOF variants to patients through our local VUS MDT
Created: 23 Oct 2025, 10:07 a.m. | Last Modified: 23 Oct 2025, 10:07 a.m.
Panel Version: 4.10

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
primary lymphoedema; cytopenia and hematological malignancy predisposition

Publications

Created: 23 Oct 2025, 10:07 a.m.
Last Modified: 23 Oct 2025, 10:07 a.m.
Panel version: 4.10

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

Comment on phenotypes: OMIM phenotype accessed on 28 October 2025.
Created: 28 Oct 2025, 5:43 p.m. | Last Modified: 28 Oct 2025, 5:43 p.m.
Panel Version: 4.14
The rating of this gene has been updated to green and the mode of inheritance set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted following NHS Genomic Medicine Service approval.
Created: 4 Dec 2024, 1:49 p.m. | Last Modified: 4 Dec 2024, 1:49 p.m.
Panel Version: 3.13

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Created: 4 Dec 2024, 1:49 p.m.
Last Modified: 28 Oct 2025, 5:43 p.m.
Panel version: 3.13

Ivone Leong (Genomics England Curator)

Comment on list classification: New gene submitted by Andrew Mumford (University of Bristol). This gene is not associated with a phenotype in OMIM or Gene2Phenotype. PMID: 36928819 describes 3 families with frameshift variants (2 nonsense-mediated decay variants and 1 protein truncating variant). There is also a fourth family with a protein truncating variant; however, there are other clinical features and lymphoedema was only identified during chart review. Over expression of mutant cDNA caused mislocalisation of ERG in the cytoplasm, preventing it from binding to DNA and functioning as a transcription factor.

Based on the above evidence this gene has been given an Amber gene rating and should be promoted to Green at the next GMS review.
Created: 6 Nov 2023, 10:36 a.m. | Last Modified: 6 Nov 2023, 10:36 a.m.
Panel Version: 3.8
Created: 6 Nov 2023, 10:36 a.m.
Last Modified: 6 Nov 2023, 10:36 a.m.
Panel version: 3.8

Andrew Mumford (University of Bristol)

Green List (high evidence)

The association between monoallelic high impact LoF variants in ERG was identified in 4 independent pedigrees in the 100KGP RD main programme and supported by functional evidence of ERG functionality in lymphatic endothelial cells (PMID:36928819)
Sources: Research
Created: 6 Sep 2023, 9:35 a.m.

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted

Phenotypes
primary lymphoedema

Created: 6 Sep 2023, 9:35 a.m.

Panel version: 3.3

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • NHS GMS
  • Expert Review Green
Phenotypes
  • Lymphatic malformation 14, OMIM:620602
  • lymphatic malformation 14, MONDO:0957954
OMIM
165080
Clinvar variants
Variants in ERG
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

28 Oct 2025, Gel status: 3

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: ERG were changed from primary lymphoedema, MONDO:0019175 to Lymphatic malformation 14, OMIM:620602; lymphatic malformation 14, MONDO:0957954

28 Oct 2025, Gel status: 3

Set publications

Ida Ertmanska (Genomics England Curator)

Publications for gene: ERG were set to 36928819

4 Dec 2024, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q4_23_promote_green was removed from gene: ERG. Tag Q4_23_NHS_review was removed from gene: ERG.

4 Dec 2024, Gel status: 3

Added New Source, Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to ERG. Source NHS GMS was added to ERG. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

6 Nov 2023, Gel status: 2

Set Phenotypes

Ivone Leong (Genomics England Curator)

Phenotypes for gene: ERG were changed from primary lymphoedema to primary lymphoedema, MONDO:0019175

6 Nov 2023, Gel status: 2

Added Tag, Added Tag

Ivone Leong (Genomics England Curator)

Tag Q4_23_promote_green tag was added to gene: ERG. Tag Q4_23_NHS_review tag was added to gene: ERG.

6 Nov 2023, Gel status: 2

Entity classified by Genomics England curator

Ivone Leong (Genomics England Curator)

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

6 Nov 2023, Gel status: 0

Set publications

Ivone Leong (Genomics England Curator)

Publications for gene: ERG were set to

6 Sep 2023, Gel status: 0

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

Andrew Mumford (University of Bristol)

gene: ERG was added gene: ERG was added to Primary lymphoedema. Sources: Research Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: ERG were set to primary lymphoedema Penetrance for gene: ERG were set to Complete Review for gene: ERG was set to GREEN