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Pulmonary fibrosis familial v0.2 RTEL1 Arina Puzriakova changed review comment from: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green. Applicant review states, There is extensive phenotypic and genotypic overlap with other telomeropathies, such as dyskeratosis congenita and Hermansky-Pudlak Syndrome, all of which have pulmonary fibrosis as a clinical feature. Some of the genes included in the panel have an autosomal recessive inheritance pattern in those disorders, but individuals who are heterozygous for pathogenic variants in the genes may develop later-onset pulmonary fibrosis.; to: This gene has been added to the panel on the recommendation of the NHS Genomic Medicine Service and should be rated green.

Applicant review states, 'There is extensive phenotypic and genotypic overlap with other telomeropathies, such as dyskeratosis congenita and Hermansky-Pudlak Syndrome, all of which have pulmonary fibrosis as a clinical feature. Some of the genes included in the panel have an autosomal recessive inheritance pattern in those disorders, but individuals who are heterozygous for pathogenic variants in the genes may develop later-onset pulmonary fibrosis.'
Pulmonary fibrosis familial v0.2 RTEL1 Arina Puzriakova reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: ; Mode of inheritance:
Pulmonary fibrosis familial v0.1 RTEL1 Arina Puzriakova gene: RTEL1 was added
gene: RTEL1 was added to Pulmonary fibrosis familial. Sources: Expert Review Green
Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Publications for gene: RTEL1 were set to 23959892; 25607374; 25848748
Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure, telomere-related, 3, OMIM:616373