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Primary ciliary disorders

Gene: WFDC2

Red List (low evidence)
WFDC2 (WAP four-disulfide core domain 2)
EnsemblGeneIds (GRCh38): ENSG00000101443
EnsemblGeneIds (GRCh37): ENSG00000101443
OMIM: 617548, Gene2Phenotype
WFDC2 is in 2 panels

2 reviews

Arina Puzriakova (Genomics England Curator)

Comment on list classification: PMID: 38626355; 4040104214 - individuals from 14 families have been reported with biallelic variants in this gene and bronchiectasis, nasal polyposis and sinopulmonary disease. Ciliary structure, beat frequency and coordination, as well as mucus viscosity were all within normal range and therefore this gene does not seem relevant to this panel. Rating Red.
Created: 16 Jun 2025, 1:39 p.m. | Last Modified: 16 Jun 2025, 1:39 p.m.
Panel Version: 1.44
Created: 16 Jun 2025, 1:39 p.m.
Last Modified: 16 Jun 2025, 1:39 p.m.
Panel version: 1.44

Max Xiaohang Zhao (Charité - Universitätsmedizin Berlin)

Red List (low evidence)

Sources: Literature
Created: 26 Jun 2024, 12:57 p.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Nasal Polyposis; Bronchiectasis

Publications

Variants in this GENE are reported as part of current diagnostic practice

Created: 26 Jun 2024, 12:57 p.m.

Panel version: 1.42

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Red
Phenotypes
  • Bronchiectasis and nasal polyposis, OMIM:620984
OMIM
617548
Clinvar variants
Variants in WFDC2
Penetrance
unknown
Publications
Panels with this gene

History Filter Activity

16 Jun 2025, Gel status: 1

Set publications

Arina Puzriakova (Genomics England Curator)

Publications for gene: WFDC2 were set to 38626355

16 Jun 2025, Gel status: 1

Entity classified by Genomics England curator

Arina Puzriakova (Genomics England Curator)

Gene: wfdc2 has been classified as Red List (Low Evidence).

16 Jun 2025, Gel status: 0

Set Phenotypes

Arina Puzriakova (Genomics England Curator)

Phenotypes for gene: WFDC2 were changed from Nasal Polyposis; Bronchiectasis to Bronchiectasis and nasal polyposis, OMIM:620984

26 Jun 2024, Gel status: 0

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

Max Xiaohang Zhao (Charité - Universitätsmedizin Berlin)

gene: WFDC2 was added gene: WFDC2 was added to Primary ciliary disorders. Sources: Literature Mode of inheritance for gene: WFDC2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: WFDC2 were set to 38626355 Phenotypes for gene: WFDC2 were set to Nasal Polyposis; Bronchiectasis Penetrance for gene: WFDC2 were set to unknown Review for gene: WFDC2 was set to RED gene: WFDC2 was marked as current diagnostic