Fetal hydrops
Gene: FZD6EnsemblGeneIds (GRCh38): ENSG00000164930
EnsemblGeneIds (GRCh37): ENSG00000164930
OMIM: 603409, Gene2Phenotype
FZD6 is in 5 panels
2 reviews
Sarah Leigh (Genomics England Curator)
FZD6 variants are associated with Nail disorder, nonsyndromic congenital (OMIM:161050). However, three FZD6 variants have been associated with two unrelated cases of fetal hyrdrops (PMID: 33082562;26036949;28425981).Created: 9 Jul 2024, 1:54 p.m. | Last Modified: 9 Jul 2024, 1:54 p.m.
Panel Version: 1.78
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Irina Adamena (Children's Clinical University Hospital)
Gene with strong evidence for fetal hydrops (PMID: 33082562)
Sources: LiteratureCreated: 11 Apr 2024, 4:33 p.m.
Mode of inheritance
Unknown
Phenotypes
Nonimmune hydrops fetalis
Publications
- PMID: 33082562
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Amber
- Phenotypes
-
- Nail disorder, nonsyndromic congenital, 1, OMIM:161050
- OMIM
- 603409
- Clinvar variants
- Variants in FZD6
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Sarah Leigh (Genomics England Curator)Gene: fzd6 has been classified as Amber List (Moderate Evidence).
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for gene: FZD6 were changed from Nonimmune hydrops fetalis to Nail disorder, nonsyndromic congenital, 1, OMIM:161050
Set mode of inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for gene: FZD6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FZD6 were set to 33082562; 26036949
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FZD6 were set to 33082562; 26036949
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FZD6 were set to 33082562
Set publications
Sarah Leigh (Genomics England Curator)Publications for gene: FZD6 were set to PMID: 33082562
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Irina Adamena (Children's Clinical University Hospital)gene: FZD6 was added gene: FZD6 was added to Fetal hydrops. Sources: Literature Mode of inheritance for gene: FZD6 was set to Unknown Publications for gene: FZD6 were set to PMID: 33082562 Phenotypes for gene: FZD6 were set to Nonimmune hydrops fetalis Review for gene: FZD6 was set to GREEN