Familial pulmonary fibrosis
Gene: PARNComment 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
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
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
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
Publications for gene: PARN were set to 25848748
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4, 616371
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
Phenotypes for PARN were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 4 616371
Publications for PARN were set to 25848748
Mode of inheritance for PARN was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
PARN was added to Familial pulmonary fibrosispanel. Sources: Eligibility statement prior genetic testing
PARN was created by ellenmcdonagh