Familial pulmonary fibrosis
Gene: TERT
Comment when marking as ready: Entry criteria recommends testingCreated: 8 Feb 2017, 2:05 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
{Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} 614742
Publications
Phenotypes for gene: TERT were changed from {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; Familial Pulmonary Fibrosis; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Panel reviews were assessed, and panel was revised according to reviews and further curation. 27th April 2017
Phenotypes for TERT were set to {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1}, 614742; Familial Pulmonary Fibrosis; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease
Phenotypes for TERT were set to {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, 614742; Familial Pulmonary Fibrosis; Pulmonary Fibrosis and Hermansky-Pudlak Syndrome; Pulmonary Disease
Mode of inheritance for TERT was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Publications for TERT were set to 20301408; 17392301
TERT was added to Familial pulmonary fibrosispanel. Source: Eligibility statement prior genetic testing
TERT was added to Familial pulmonary fibrosispanel. Source: Emory Genetics Laboratory
TERT was added to Familial pulmonary fibrosispanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TERT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TERT was created by ellenmcdonagh
TERT was added to Familial pulmonary fibrosispanel. Sources: Radboud University Medical Center, Nijmegen