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| Skeletal dysplasia v0.75 | DVL1 | Zornitza Stark Marked gene: DVL1 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.75 | DVL1 | Zornitza Stark Gene: dvl1 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.75 | DVL1 | Zornitza Stark Phenotypes for gene: DVL1 were changed from Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331 to Robinow syndrome, autosomal dominant 2, MIM# 616331 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.74 | DVL1 | Zornitza Stark Mode of pathogenicity for gene: DVL1 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 | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.73 | DVL1 | Zornitza Stark Mode of inheritance for gene: DVL1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.72 | DVL1 | Zornitza Stark reviewed gene: DVL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25817014, 25817016; Phenotypes: Robinow syndrome, autosomal dominant 2 (MIM#616331); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed) | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Skeletal dysplasia v0.0 | DVL1 |
Zornitza Stark gene: DVL1 was added gene: DVL1 was added to Skeletal dysplasia. Sources: Expert list,NHS GMS,Radboud University Medical Center, Nijmegen,UKGTN,Expert Review Green Mode of inheritance for gene: DVL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL1 were set to 25817014; 25817016 Phenotypes for gene: DVL1 were set to Robinow syndrome, autosomal dominant 2 616331; Robinow syndrome, autosomal dominant 2 616331 |
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