Interstitial Lung Disease
Gene: ZNF341EnsemblGeneIds (GRCh38): ENSG00000131061
EnsemblGeneIds (GRCh37): ENSG00000131061
ZNF341 is in 3 panels
1 review
Suzanna Lindsey-Temple (Liverpool Hospital)
PMID: 29907691 - 3 adults had bronchiectasis or pneumatocele (23, 24, 47yo).
PMID: 29907690 - 2 distinct homozygous nonsense mutations in ZNF341 in 4 autosomal-recessive kindreds with some of the children (1-12 years old) having recurrent and severe pneumonia including necrotising pneumonia but with no reported bronchiectasis.Created: 6 Nov 2021, 11:26 p.m. | Last Modified: 6 Nov 2021, 11:26 p.m.
Panel Version: 0.183
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
HIES; Bronchiectasis
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Red
- Phenotypes
-
- Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282
- Bronchiectasis
- Clinvar variants
- Variants in ZNF341
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf341 has been classified as Red List (Low Evidence).
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: znf341 has been classified as Red List (Low Evidence).
Set publications
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Publications for gene: ZNF341 were set to
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: ZNF341 were changed from to Hyper-IgE recurrent infection syndrome 3, autosomal recessive, MIM# 618282; Bronchiectasis
Created, Added New Source, Set mode of inheritance
Suzanna Lindsey-Temple (Liverpool Hospital)gene: ZNF341 was added gene: ZNF341 was added to Interstitial Lung Disease. Sources: Expert list Mode of inheritance for gene: ZNF341 was set to BIALLELIC, autosomal or pseudoautosomal