| Date | Panel | Item | Activity | ||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
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| Fetal anomalies v0.3108 | RPL15 | Zornitza Stark Marked gene: RPL15 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3108 | RPL15 | Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3108 | RPL15 | Zornitza Stark Classified gene: RPL15 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3108 | RPL15 | Zornitza Stark Gene: rpl15 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.3103 | RPL15 |
Krithika Murali gene: RPL15 was added gene: RPL15 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: RPL15 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: RPL15 were set to 20301769; 29599205; 23812780 Phenotypes for gene: RPL15 were set to Diamond-Blackfan anemia 12 - MIM#615550; multiple congenital malformations; hydrops Review for gene: RPL15 was set to GREEN Added comment: Known association with Diamond Blackfan anaemia (~1% of cases) which in turn is known to be associated with congenital malformations (craniofacial, upper limb, heart and genitourinary malformations). 3 of 4 patients with truncating RPL15 variants had severe non-immune hydrops fetalis and required intrauterine transfusions. Sources: Literature |
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