| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Primary lymphoedema v3.9 | ERG | Ivone Leong Phenotypes for gene: ERG were changed from primary lymphoedema to primary lymphoedema, MONDO:0019175 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v3.8 | ERG |
Ivone Leong Tag Q4_23_promote_green tag was added to gene: ERG. Tag Q4_23_NHS_review tag was added to gene: ERG. |
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| Primary lymphoedema v3.8 | ERG | Ivone Leong Classified gene: ERG as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v3.8 | ERG |
Ivone Leong Added comment: 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. |
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| Primary lymphoedema v3.8 | ERG | Ivone Leong Gene: erg has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v3.7 | ERG | Ivone Leong Publications for gene: ERG were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v3.3 | ERG |
Andrew Mumford 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 Added comment: 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 |
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| Primary lymphoedema v2.18 | DCHS1 | Arina Puzriakova Phenotypes for gene: DCHS1 were changed from Van Maldergem syndrome 1, 601390 to Van Maldergem syndrome 1, OMIM:601390 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.39 | GATA2 | Sarah Leigh Added comment: Comment on phenotypes: Emberger syndrome (Primary Lymphedema with Myelodysplasia) 614038 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.39 | GATA2 | Sarah Leigh Phenotypes for gene: GATA2 were changed from Primary Lymphedema with Myelodysplasia (Emberger Syndrome) 614038 to Emberger Syndrome 614038; {Myelodysplastic syndrome, susceptibility to} 614286 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.28 | DCHS1 | Anna de Burca Added comment: Comment on publications: 3 homozygous variants in 3 unrelated consanguineous families with Van Maldergem syndrome. Lymphoedema is not a feature of Van Maldergem syndrome but Hennekam lymphoedema can be caused by mutations in FAT4 (the receptor for DHCS1) and this paper also reports variants in FAT4 in Van Maldergem syndrome. PMID: 24913602 states that there is considerable overlap in phenotype between the two conditions. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Primary lymphoedema v1.26 | DCHS1 |
Rebecca Foulger gene: DCHS1 was added gene: DCHS1 was added to Lymphatic Disorders. Sources: UKGTN Mode of inheritance for gene: DCHS1 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: DCHS1 were set to Van Maldergem syndrome 1, 601390 Added comment: Added DCHS1 to panel as requested by Athina Ververi at GOSH, because DCHS1 is on the St. George's lymphoedema 15-gene panel (September 2017). DCHS1 is a ligand for FAT4 (Green gene on this panel), and current evidence appears to be biochemical rather than variant case studies so kept rating as Red. Sources: UKGTN |
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