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  3. FZD6
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Fetal anomalies

Gene: FZD6

Amber List (moderate evidence)
FZD6 (frizzled class receptor 6)
EnsemblGeneIds (GRCh38): ENSG00000164930
EnsemblGeneIds (GRCh37): ENSG00000164930
OMIM: 603409, Gene2Phenotype
FZD6 is in 5 panels

4 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

This gene and phenotype were reviewed during meetings between November 2024 & January 2025. The meetings included representatives of the Central & South and North Thames R21 testing GLHs and from the R21 Clinical Oversight Group. Clinical review and curation was performed by Stephanie Allen, Natalie Bibb, and Sarah Graham (Central & South GLH), Natalie Chandler and Elizabeth Scotchman (North Thames GLH), and Sunayna Best, Anna De Burca, Natalie Canham, Samantha Doyle, Alice Gardham, Victoria Harrison, Esther Kinning, Sahar Mansour, Soo-Mi Park, and Elizabeth Wall (R21 Clinical Oversight Group).
Created: 20 Feb 2025, 9:40 p.m. | Last Modified: 20 Feb 2025, 9:40 p.m.
Panel Version: 5.16
Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.16

Natalie Bibb (C&S GLH)

I don't know

33082562 - Link to FZD6-associated fetal hydrops. 26036949 - WES of families with recurrent fetal loss- novel candidate gene, no evidence provided. PMID:28425981 - WES biallelic variants VUS in FZD6 in fetus with hydrops resulting in fetal demise, previous pregnancy same presentaion and outcome.
Created: 20 Feb 2025, 9:35 p.m. | Last Modified: 20 Feb 2025, 9:35 p.m.
Panel Version: 5.15

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nail disorder, nonsyndromic congenital, 1, MIM#161050

Publications

Created: 20 Feb 2025, 9:35 p.m.
Last Modified: 20 Feb 2025, 9:35 p.m.
Panel version: 5.15

Sarah Leigh (Genomics England Curator)

I don't know

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, 1:57 p.m. | Last Modified: 9 Jul 2024, 1:57 p.m.
Panel Version: 4.24

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 9 Jul 2024, 1:57 p.m.
Last Modified: 9 Jul 2024, 1:57 p.m.
Panel version: 4.24

Rebecca Foulger (Genomics England curator)

Red List (low evidence)

This gene and phenotype were reviewed during meetings at Great Ormond Street hospital in March 2019. Clinical review and curation was performed by Lyn Chitty, Anna de Burca, Rhiannon Mellis, Richard Scott, Ellen McDonagh and Rebecca Foulger. Outcome of review: Phenotype is not fetally-relevant. Action taken: Demoted FZD6 gene rating from Green to Red.
Created: 24 Mar 2019, 4:30 p.m.
DDG2P rating in original PAGE list: Confirmed for NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10
Created: 11 Dec 2018, 9:05 a.m.
Created: 11 Dec 2018, 9:05 a.m.

Panel version: 0.134

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • NHS GMS
  • Expert Review Amber
  • PAGE DD-Gene2Phenotype
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

20 Feb 2025, Gel status: 2

Added New Source

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to FZD6.

9 Jul 2024, Gel status: 2

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for gene: FZD6 were changed from NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10 to Nail disorder, nonsyndromic congenital, 1, OMIM:161050

9 Jul 2024, Gel status: 2

Set publications

Sarah Leigh (Genomics England Curator)

Publications for gene: FZD6 were set to

9 Jul 2024, Gel status: 2

Entity classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

Gene: fzd6 has been classified as Amber List (Moderate Evidence).

24 Mar 2019, Gel status: 1

Added New Source, Status Update

Rebecca Foulger (Genomics England curator)

Source Expert Review Red was added to FZD6. Rating Changed from Green List (high evidence) to Red List (low evidence)

8 Nov 2018, Gel status: 4

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Rebecca Foulger (Genomics England curator)

gene: FZD6 was added gene: FZD6 was added to Fetal anomalies. Sources: Expert Review Green,PAGE DD-Gene2Phenotype Mode of inheritance for gene: FZD6 was set to BIALLELIC, autosomal or pseudoautosomal Phenotypes for gene: FZD6 were set to NAIL DISORDER NON-SYNDROMIC CONGENITAL TYPE 10