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Fetal anomalies v1.18 RSPO2 Zornitza Stark Marked gene: RSPO2 as ready
Fetal anomalies v1.18 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Fetal anomalies v1.18 RSPO2 Zornitza Stark Classified gene: RSPO2 as Green List (high evidence)
Fetal anomalies v1.18 RSPO2 Zornitza Stark Gene: rspo2 has been classified as Green List (High Evidence).
Fetal anomalies v1.17 RSPO2 Zornitza Stark gene: RSPO2 was added
gene: RSPO2 was added to Fetal anomalies. Sources: Expert Review
Mode of inheritance for gene: RSPO2 was set to BIALLELIC, autosomal or pseudoautosomal
Publications for gene: RSPO2 were set to 29769720; 32457899
Phenotypes for gene: RSPO2 were set to Tetraamelia syndrome 2, MIM# 618021
Review for gene: RSPO2 was set to GREEN
Added comment: Tetraamelia syndrome-2 (TETAMS2) is characterized by rudimentary appendages or complete absence of the limbs, usually symmetric, as well as bilateral agenesis of the lungs. There are abnormalities of the pulmonary vasculature and dysmorphic features, including bilateral cleft lip/palate, ankyloglossia, mandibular hypoplasia, microretrognathia, and labioscrotal fold aplasia. Four unrelated families and functional data including animal model.
Sources: Expert Review