Skeletal Dysplasia_Fetal

Gene: DVL3

Green List (high evidence)

DVL3 (dishevelled segment polarity protein 3)
EnsemblGeneIds (GRCh38): ENSG00000161202
EnsemblGeneIds (GRCh37): ENSG00000161202
OMIM: 601368, Gene2Phenotype
DVL3 is in 6 panels

1 review

Krithika Murali (Victorian Clinical Genetics Services)

Green List (high evidence)

Detection of short stature antenatally and mesomelia at birth reported.
Sources: Literature
Created: 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

26 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dvl3 has been classified as Green List (High Evidence).

26 Oct 2022, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: dvl3 has been classified as Green List (High Evidence).

25 Oct 2022, Gel status: 0

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