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Fetal anomalies

Gene: FUZ

Green List (high evidence)
FUZ (fuzzy planar cell polarity protein)
EnsemblGeneIds (GRCh38): ENSG00000010361
EnsemblGeneIds (GRCh37): ENSG00000010361
OMIM: 610622, Gene2Phenotype
FUZ is in 4 panels

3 reviews

Achchuthan Shanmugasundram (Genomics England Curator)

Green List (high evidence)

The rating of this gene has been updated to green and the mode of inheritance updated to BIALLELIC, autosomal or pseudoautosomal following NHS Genomic Medicine Service approval.
Created: 25 Feb 2025, 11:15 a.m. | Last Modified: 25 Feb 2025, 11:15 a.m.
Panel Version: 5.78
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

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Created: 20 Feb 2025, 9:40 p.m.
Last Modified: 20 Feb 2025, 9:40 p.m.
Panel version: 5.78

Natalie Bibb (C&S GLH)

Green List (high evidence)

Red in NTD, FA and rare craniosynostosis panels. OMIM # 182940 Neural tube defects, spina bifida AD. Biallelic not on OMIM. 4 families 6 affected (1 sib pair, 1 set MZ twins). Biallelic variants associated with severe neural tube defects, craniosynostosis, cardiac abnormalities, or skeletal dysplasia, digital anomalies, orofacial cleft, short ribs and cardiac defects resembling orofaciodigital syndrome. Suggesting some variants lethal as miscarriages reported.
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
Skeletal ciliopathy, MONDO:0005308

Publications

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

Rebecca Foulger (Genomics England curator)

I don't know

DDG2P rating in original PAGE list: Possible.
Created: 11 Dec 2018, 9:05 a.m.
In the original PAGE file, MOP listed as Uncertain.
Created: 8 Nov 2018, 4:45 p.m.

Mode of pathogenicity
Other - please provide details in the comments

Created: 8 Nov 2018, 4:45 p.m.

Panel version: 0.9

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • NHS GMS
  • PAGE Additional Gene List
Phenotypes
  • Skeletal ciliopathy, MONDO:0005308
OMIM
610622
Clinvar variants
Variants in FUZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

25 Feb 2025, Gel status: 3

Removed Tag, Removed Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review was removed from gene: FUZ. Tag Q1_25_ promote_green was removed from gene: FUZ.

25 Feb 2025, Gel status: 3

Added New Source, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source Expert Review Green was added to FUZ. Rating Changed from Amber List (moderate evidence) to Green List (high evidence)

21 Feb 2025, Gel status: 2

Added Tag, Added Tag

Achchuthan Shanmugasundram (Genomics England Curator)

Tag Q1_25_ NHS_review tag was added to gene: FUZ. Tag Q1_25_ promote_green tag was added to gene: FUZ.

20 Feb 2025, Gel status: 2

Set Phenotypes

Achchuthan Shanmugasundram (Genomics England Curator)

Phenotypes for gene: FUZ were changed from Skeletal ciliopathy, MONDO:0005308; Neural tube defects 182940 to Skeletal ciliopathy, MONDO:0005308

20 Feb 2025, Gel status: 2

Added New Source, Added New Source, Set mode of inheritance, Set Phenotypes, Set publications, Status Update

Achchuthan Shanmugasundram (Genomics England Curator)

Source NHS GMS was added to FUZ. Source Expert Review Amber was added to FUZ. Mode of inheritance for gene FUZ was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal Added phenotypes Skeletal ciliopathy, MONDO:0005308 for gene: FUZ Publications for gene: FUZ were updated from to 29068549; 34719684; 38702430 Rating Changed from Red List (low evidence) to Amber List (moderate evidence)

8 Nov 2018, Gel status: 1

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

Rebecca Foulger (Genomics England curator)

gene: FUZ was added gene: FUZ was added to Fetal anomalies. Sources: PAGE Additional Gene List,Expert Review Red Mode of inheritance for gene: FUZ was set to Unknown Phenotypes for gene: FUZ were set to Neural tube defects 182940