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| Skeletal Dysplasia_Fetal v0.164 | GNPNAT1 | Zornitza Stark Marked gene: GNPNAT1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.164 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.164 | GNPNAT1 | Zornitza Stark Classified gene: GNPNAT1 as Amber List (moderate evidence) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.164 | GNPNAT1 | Zornitza Stark Gene: gnpnat1 has been classified as Amber List (Moderate Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.163 | GNPNAT1 |
Krithika Murali gene: GNPNAT1 was added gene: GNPNAT1 was added to Skeletal Dysplasia_Fetal. Sources: Literature 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: Literature |
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