| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Hydrops fetalis v1.0 | CELSR1 | Gene migrated from ENSG00000075275 to ENSG00000075275 (gene set migration) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.308 | CELSR1 | Chern Lim edited their review of gene: CELSR1: Changed rating: GREEN | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.308 | CELSR1 | Ain Roesley Phenotypes for gene: CELSR1 were changed from Lymphatic malformation 9, MIM# 619319 to Lymphatic malformation 9, MIM# 619319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.307 | CELSR1 | Ain Roesley changed review comment from: Comment on phenotypes: Presentation of hydrod is a phenotypic expansion on Lymphatic malformation; to: Comment on phenotypes: Presentation of hydrops is a phenotypic expansion on Lymphatic malformation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.307 | CELSR1 | Ain Roesley Marked gene: CELSR1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.307 | CELSR1 | Ain Roesley Gene: celsr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.307 | CELSR1 | Ain Roesley Added comment: Comment on phenotypes: Presentation of hydrod is a phenotypic expansion on Lymphatic malformation | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.307 | CELSR1 | Ain Roesley Phenotypes for gene: CELSR1 were changed from hydrops fetalis (MONDO:0015193), CELSR1-related to Lymphatic malformation 9, MIM# 619319 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.306 | CELSR1 | Ain Roesley Classified gene: CELSR1 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.306 | CELSR1 | Ain Roesley Gene: celsr1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Hydrops fetalis v0.305 | CELSR1 |
Chern Lim gene: CELSR1 was added gene: CELSR1 was added to Hydrops fetalis. Sources: Literature Mode of inheritance for gene: CELSR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: CELSR1 were set to 38272662 Phenotypes for gene: CELSR1 were set to hydrops fetalis (MONDO:0015193), CELSR1-related Review for gene: CELSR1 was set to AMBER gene: CELSR1 was marked as current diagnostic Added comment: PMID: 38272662: - Het de novo missense variants in two unrelated cases of fetal pleural effusions leading to severe fetal hydrops - Cys1318Tyr, Cys1349Arg. - Both variants lie within the same protein domain. - Functional studies performed for only one of the variants, p.(Cys1318Tyr): the variant affected CELSR1 protein cell membrane localisation compared with wild-type CELSR1 protein in both a plasmid-based overexpression system and the patient fibroblast cells. Bulk RNA-seq of RNA samples extracted from the proband and the mother’s fibroblast cells demonstrated that in the proband mRNA samples, the amount of CELSR1 mRNA was significantly decreased. - No functional testing was performed on the p.(Cys1349Arg) variant. Sources: Literature |
|||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||