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| Fetal anomalies v1.147 | GNPNAT1 | Zornitza Stark Marked gene: GNPNAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.147 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.147 | GNPNAT1 | Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.147 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v1.146 | GNPNAT1 |
Zornitza Stark gene: GNPNAT1 was added gene: GNPNAT1 was added to Fetal anomalies. Sources: Expert Review Mode of inheritance for gene: GNPNAT1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: GNPNAT1 were set to 36097642; 35427807; 32591345 Phenotypes for gene: GNPNAT1 were set to Rhizomelic dysplasia, Ain-Naz type, MIM#619598 Review for gene: GNPNAT1 was set to AMBER Added comment: 3 unrelated families reported with a skeletal dysplasia characterised by severe short stature and rhizomelic shortening. No antenatal features reported. The parents in PMID 36097642 had a medical termination of pregnancy at 4 months gestation for a fetus with skeletal anomalies - not genotyped. Sources: Expert Review |
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