1. Panels
  2. Pulmonary Fibrosis_Interstitial Lung Disease
  3. WFDC2
STRs in panel
Prev Next
Regions in panel
Prev Next

Pulmonary Fibrosis_Interstitial Lung Disease

Gene: WFDC2

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

1 review

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Green List (high evidence)

11 individuals from 10 families reported with bi-allelic variants in this gene and bronchiectasis and nasal polyps. p.Cys49Arg is recurrent and may be a founder variant.
Sources: Literature
Created: 7 Oct 2024, 6:55 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Bronchiectasis and nasal polyposis, MIM# 620984

Publications

Created: 7 Oct 2024, 6:55 a.m.

Panel version: 0.79

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Expert Review Green
  • Literature
Phenotypes
  • Bronchiectasis and nasal polyposis, MIM# 620984
Tags
founder
OMIM
617548
Clinvar variants
Variants in WFDC2
Penetrance
None
Publications
Panels with this gene

History Filter Activity

20 Oct 2024, Gel status: 3

Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Phenotypes for gene: WFDC2 were changed from bronchiectasis, MONDO:0004822, WFDC2-related to Bronchiectasis and nasal polyposis, MIM# 620984

7 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wfdc2 has been classified as Green List (High Evidence).

7 Oct 2024, Gel status: 3

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag founder tag was added to gene: WFDC2.

7 Oct 2024, Gel status: 3

Entity classified by Genomics England curator

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Gene: wfdc2 has been classified as Green List (High Evidence).

7 Oct 2024, Gel status: 1

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

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: WFDC2 was added gene: WFDC2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. 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 bronchiectasis, MONDO:0004822, WFDC2-related Review for gene: WFDC2 was set to GREEN