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| Skeletal Dysplasia_Fetal v0.44 | GDF5 | Zornitza Stark Phenotypes for gene: GDF5 were changed from to Grebe type chondrodysplasia (MIM#200700); Du Pan syndrome (MIM#228900) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.43 | GDF5 | Zornitza Stark Publications for gene: GDF5 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.42 | GDF5 | Zornitza Stark Mode of pathogenicity for gene: GDF5 was changed from to Other | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.41 | GDF5 | Zornitza Stark Mode of inheritance for gene: GDF5 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.40 | GDF5 | Zornitza Stark reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33333243; Phenotypes: Grebe type chondrodysplasia (MIM#200700), Du Pan syndrome (MIM#228900); Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal Dysplasia_Fetal v0.0 | GDF5 |
Zornitza Stark gene: GDF5 was added gene: GDF5 was added to Skeletal dysplasia Fetal_MelbourneGenomics_VCGS. Sources: Melbourne Genomics Health Alliance Perinatal Autopsy Flagship,Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: GDF5 was set to Unknown |
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