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| Fetal anomalies v0.1034 | GDF6 | Zornitza Stark Marked gene: GDF6 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1034 | GDF6 | Zornitza Stark Gene: gdf6 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1034 | GDF6 | Zornitza Stark Phenotypes for gene: GDF6 were changed from KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT to Multiple synostoses syndrome 4 (MIM#617898) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.1033 | GDF6 | Zornitza Stark Mode of pathogenicity for gene: GDF6 was changed from to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.968 | GDF6 | Ain Roesley reviewed gene: GDF6: Rating: GREEN; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 30733656, 29130651, 26643732; Phenotypes: Multiple synostoses syndrome 4 (MIM#617898); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Fetal anomalies v0.0 | GDF6 |
Zornitza Stark gene: GDF6 was added gene: GDF6 was added to Fetal anomalies. Sources: Expert Review Green,Genomics England PanelApp Mode of inheritance for gene: GDF6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: GDF6 were set to 32737436 Phenotypes for gene: GDF6 were set to KLIPPEL-FEIL SYNDROME TYPE 1; MICROPHTHALMIA ISOLATED TYPE 4; Syndromic CAKUT |
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