Pulmonary Fibrosis_Interstitial Lung Disease
Gene: TERC
Dyskeratosis congenita is a rare multisystem disorder caused by defective telomere maintenance. Clinical features are highly variable and include bone marrow failure, predisposition to malignancy, and pulmonary and hepatic fibrosis. The classic clinical triad of abnormal skin pigmentation, leukoplakia, and nail dystrophy is not always observed. Other features include premature graying of the hair, osteoporosis, epiphora, dental abnormalities and testicular atrophy, among others.
Well established gene-disease association.Created: 26 Mar 2022, 2:46 a.m. | Last Modified: 26 Mar 2022, 2:46 a.m.
Panel Version: 0.11980
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Publications
Gene: terc has been classified as Green List (High Evidence).
Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743
Publications for gene: TERC were set to
Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Tag non-coding gene tag was added to gene: TERC.
gene: TERC was added gene: TERC was added to Pulmonary Fibrosis_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TERC was set to Unknown