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  2. Rare syndromic craniosynostosis or isolated multisuture synostosis
  3. FUZ
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Rare syndromic craniosynostosis or isolated multisuture synostosis

Gene: FUZ

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

1 review

Achchuthan Shanmugasundram (Genomics England Curator)

Red List (low evidence)

A pair of monozygotic twins were described with craniosynostosis and a novel variant in FUZ (c.851G>C; p.Arg284Pro) (PMID:34719684).
Sources: Literature
Created: 21 Jul 2023, 9:07 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
craniosynostosis, MONDO:0015469

Publications

Created: 21 Jul 2023, 9:07 p.m.

Panel version: 4.128

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • craniosynostosis, MONDO:0015469
OMIM
610622
Clinvar variants
Variants in FUZ
Penetrance
None
Publications
Panels with this gene

History Filter Activity

21 Jul 2023, Gel status: 1

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

Achchuthan Shanmugasundram (Genomics England Curator)

gene: FUZ was added gene: FUZ was added to Rare syndromic craniosynostosis or isolated multisuture synostosis. Sources: Literature Mode of inheritance for gene: FUZ was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: FUZ were set to 34719684; 36980886 Phenotypes for gene: FUZ were set to craniosynostosis, MONDO:0015469 Review for gene: FUZ was set to RED