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| Lymphoedema v0.29 | EPHB4 | Bryony Thompson Classified gene: EPHB4 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema v0.29 | EPHB4 | Bryony Thompson Gene: ephb4 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| 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 |
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