Activity
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5 actions
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| Fetal anomalies v0.4342 | GTPBP2 | Zornitza Stark Marked gene: GTPBP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4342 | GTPBP2 | Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4342 | GTPBP2 | Zornitza Stark Classified gene: GTPBP2 as Green List (high evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4342 | GTPBP2 | Zornitza Stark Gene: gtpbp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.4273 | GTPBP2 |
Ain Roesley gene: GTPBP2 was added gene: GTPBP2 was added to Fetal anomalies. Sources: Literature Mode of inheritance for gene: GTPBP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GTPBP2 were set to 26675814; 29449720; 30790272 Phenotypes for gene: GTPBP2 were set to Jaberi-Elahi syndrome MIM#617988 Review for gene: GTPBP2 was set to GREEN gene: GTPBP2 was marked as current diagnostic Added comment: Nine individuals from six unrelated families microcephaly noted but measurements at birth not provided. 1x weight 5th percentile and OFC 25-50 percentile scoliosis consistently reported Other features include clenched hands, talipes, abnormal brain imaging, pectus excavatum Sources: Literature |
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