| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Lymphoedema v0.28 | EPHB4 |
Bryony Thompson gene: EPHB4 was added gene: EPHB4 was added to Lymphoedema. Sources: Literature Mode of inheritance for gene: EPHB4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: EPHB4 were set to 34040196; 34231312; 27400125; 29905864 Phenotypes for gene: EPHB4 were set to EPHB4-associated vascular malformation spectrum MONDO:0700080 Review for gene: EPHB4 was set to GREEN Added comment: PMID: 34040196 - p.N410K (VUS) in a case with primary lymphoedema PMID: 34231312 - one family with a primary lymphoedema (c.1998_1999insGC; p.Ile667Alafs*25). The variant allele didn’t fully undergo NMD PMID: 27400125 - 2 missense segregating in 2 unrelated families PMID: 29905864 - splice variant producing an in-frame deletion segregating in a family Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema v0.19 | Bryony Thompson Copied gene ERG from panel Lymphoedema_nonsyndromic | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema v0.19 | ERG |
Bryony Thompson gene: ERG was added gene: ERG was added to Lymphoedema_syndromic. Sources: Expert Review Green,Literature Mode of inheritance for gene: ERG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: ERG were set to 36928819 Phenotypes for gene: ERG were set to Lymphatic malformation 14, MIM# 620602 Penetrance for gene: ERG were set to unknown |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema v0.0 | GATA2 |
Sue White gene: GATA2 was added gene: GATA2 was added to Lymphoedema_syndromic. Sources: London South GLH,Illumina TruGenome Clinical Sequencing Services,UKGTN,Expert Review Green Mode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GATA2 were set to 21892158 Phenotypes for gene: GATA2 were set to {Myelodysplastic syndrome, susceptibility to} 614286; Emberger Syndrome 614038 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema v0.0 | FAT4 |
Sue White gene: FAT4 was added gene: FAT4 was added to Lymphoedema_syndromic. Sources: London South GLH,Radboud University Medical Center, Nijmegen,Expert Review Green Mode of inheritance for gene: FAT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FAT4 were set to 24913602 Phenotypes for gene: FAT4 were set to Hennekam lymphangiectasia-lymphedema syndrome 2, 616006; Van Maldergem syndrome 2, 615546 |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||