Skeletal Dysplasia_Fetal
Gene: DVL3EnsemblGeneIds (GRCh38): ENSG00000161202
EnsemblGeneIds (GRCh37): ENSG00000161202
OMIM: 601368, Gene2Phenotype
DVL3 is in 6 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Detection of short stature antenatally and mesomelia at birth reported.
Sources: LiteratureCreated: 25 Oct 2022, 6:15 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Robinow syndrome, autosomal dominant 3-MIM#616894
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Robinow syndrome, autosomal dominant 3-MIM#616894
- OMIM
- 601368
- Clinvar variants
- Variants in DVL3
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dvl3 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: dvl3 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Krithika Murali (Victorian Clinical Genetics Services)gene: DVL3 was added gene: DVL3 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: DVL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: DVL3 were set to 25577943 Phenotypes for gene: DVL3 were set to Robinow syndrome, autosomal dominant 3-MIM#616894 Review for gene: DVL3 was set to GREEN