Pulmonary Fibrosis_Interstitial Lung Disease
Gene: POLA2EnsemblGeneIds (GRCh38): ENSG00000014138
EnsemblGeneIds (GRCh37): ENSG00000014138
POLA2 is in 4 panels
1 review
Bryony Thompson (Royal Melbourne Hospital)
Pulmonary fibrosis is a feature of the phenotype in 4 cases from 2 unrelated families with biallelic variants with functional evidence supporting an effect on telomere length. Pulmonary fibrosis is a common feature of telomere biology disorders.
Sources: LiteratureCreated: 7 Dec 2024, 6:35 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Telomere biology syndrome MONDO:0100137
Publications
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- Literature
- Phenotypes
-
- Telomere biology syndrome MONDO:0100137
- Clinvar variants
- Variants in POLA2
- Penetrance
- None
- Publications
- Panels with this gene
History Filter Activity
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pola2 has been classified as Green List (High Evidence).
Entity classified by Genomics England curator
Bryony Thompson (Royal Melbourne Hospital)Gene: pola2 has been classified as Green List (High Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Bryony Thompson (Royal Melbourne Hospital)gene: POLA2 was added gene: POLA2 was added to Pulmonary Fibrosis_Interstitial Lung Disease. Sources: Literature Mode of inheritance for gene: POLA2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: POLA2 were set to 39616267 Phenotypes for gene: POLA2 were set to Telomere biology syndrome MONDO:0100137 Review for gene: POLA2 was set to GREEN