Skeletal Dysplasia_Fetal
Gene: FZD2EnsemblGeneIds (GRCh38): ENSG00000180340
EnsemblGeneIds (GRCh37): ENSG00000180340
OMIM: 600667, Gene2Phenotype
FZD2 is in 5 panels
1 review
Krithika Murali (Victorian Clinical Genetics Services)
Previous review by Chirag Patel Fetal anomalies panel 13.1.22
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Skeletal dysplasia characterized by shortened humeri, dislocated radial heads, shortened first metacarpals, craniofacial dysmorphism, and variable genitourinary anomalies. Overlaps with AD Robinow syndrome. Some detected antenatally with shortened humeri and abnormal genitalia. Suitable for fetal anomalies panel.
Sources: LiteratureCreated: 30 Oct 2022, 11:53 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Omodysplasia 2, OMIM #164745
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Omodysplasia 2, OMIM #164745
- OMIM
- 600667
- Clinvar variants
- Variants in FZD2
- 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: fzd2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: fzd2 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: FZD2 was added gene: FZD2 was added to Skeletal Dysplasia_Fetal. Sources: Literature Mode of inheritance for gene: FZD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Publications for gene: FZD2 were set to 25759469, 30455931, 29383834, 29230162, Phenotypes for gene: FZD2 were set to Omodysplasia 2, OMIM #164745 Review for gene: FZD2 was set to GREEN