| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Marked gene: PTPN14 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Classified gene: PTPN14 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.3 | PTPN14 | Zornitza Stark Gene: ptpn14 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Lymphoedema_nonsyndromic v0.2 | PTPN14 |
Bryony Thompson gene: PTPN14 was added gene: PTPN14 was added to Lymphoedema. Sources: Expert list Mode of inheritance for gene: PTPN14 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: PTPN14 were set to 20826270; https://doi.org/10.1016/j.mgene.2017.07.006 Phenotypes for gene: PTPN14 were set to Choanal atresia and lymphedema MIM#613611 Review for gene: PTPN14 was set to GREEN Added comment: Two unrelated consanguineous middle eastern families reported with choanal atresia and lymphedema, and different homozygous variants. The Ptpn14-/- mouse model manifects lymphatic hyperplasia with lymphedema. Sources: Expert list |
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