Primary lymphoedema
Gene: ERGComment 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
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: ResearchCreated: 6 Sep 2023, 9:35 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
primary lymphoedema
Phenotypes for gene: ERG were changed from primary lymphoedema to primary lymphoedema, MONDO:0019175
Tag Q4_23_promote_green tag was added to gene: ERG. Tag Q4_23_NHS_review tag was added to gene: ERG.
Gene: erg has been classified as Amber List (Moderate Evidence).
Publications for gene: ERG were set to
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