Familial pulmonary fibrosis
Gene: PARNEnsemblGeneIds (GRCh38): ENSG00000140694
EnsemblGeneIds (GRCh37): ENSG00000140694
OMIM: 604212, Gene2Phenotype
PARN is in 12 panels
4 reviews
Louise Daugherty (Genomics England Curator)
Comment on publications: added new PMID as advised by external reivewCreated: 20 Aug 2019, 2:18 p.m. | Last Modified: 20 Aug 2019, 2:18 p.m.
Panel Version: 1.6
Matthew Edwards (Clinical Genetics & Genomics Lab, Royal Brompton & Harefield NHS Trust)
Gene on Royal Brompton diagnostic panel, with several likely pathogenic variants detected in FPF patients. Very good literature evidence.Created: 16 Aug 2019, 11:41 a.m. | Last Modified: 16 Aug 2019, 11:41 a.m.
Panel Version: 1.5
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 (OMIM 616371)
Publications
Philip Molyneaux (Imperial College)
Alice Gardham (Genomics England)
Entry criteria suggests testing. Mutations found in six unrelated families but with decreased penetranceCreated: 8 Feb 2017, 2:32 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 616371
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Eligibility statement prior genetic testing
- Phenotypes
-
- Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
- OMIM
- 604212
- Clinvar variants
- Variants in PARN
- Penetrance
- Incomplete
- Publications
- Panels with this gene
-
- Intellectual disability
- Haematological malignancies for rare disease
- Cytopenia - NOT Fanconi anaemia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- DDG2P
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Fetal anomalies
- COVID-19 research
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: PARN were changed from Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371 to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, OMIM:616371
Set publications
Louise Daugherty (Genomics England Curator)Publications for gene: PARN were set to 25848748
panel promoted to version 1
Louise Daugherty (Genomics England Curator)Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Set Phenotypes
Louise Daugherty (Genomics England Curator)Phenotypes for PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Set Phenotypes
Alice Gardham (Genomics England)Phenotypes for PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 616371
Set publications
Alice Gardham (Genomics England)Publications for PARN were set to 25848748
Set Mode of Inheritance
Alice Gardham (Genomics England)Mode of inheritance for PARN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Gene classified by Genomics England curator
Alice Gardham (Genomics England)This gene has been classified as Green List (High Evidence).
Added New Source
Ellen McDonagh (Genomics England Curator)PARN was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing
Created
Ellen McDonagh (Genomics England Curator)PARN was created by ellenmcdonagh