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| Fetal anomalies v8.26 | TSR2 | Ida Ertmanska commented on gene: TSR2 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.25 | TSR2 | Esther Kinning reviewed gene: TSR2: Rating: RED; Mode of pathogenicity: ; Publications: 24942156; Phenotypes: Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946, Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v8.23 | TSR2 |
Ida Ertmanska gene: TSR2 was added gene: TSR2 was added to Fetal anomalies. Sources: NHS GMS,Expert Review Red Mode of inheritance for gene: TSR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females Publications for gene: TSR2 were set to 24942156 Phenotypes for gene: TSR2 were set to Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, OMIM:300946; Diamond-Blackfan anemia 14 with mandibulofacial dysostosis, MONDO:0010493 |
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