Childhood interstitial lung disease
Gene: TERCEnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
TERC has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.Created: 26 Jan 2026, 6:34 p.m. | Last Modified: 26 Jan 2026, 6:34 p.m.
Panel Version: 0.5
Comment on phenotypes: This gene has been associated with relevant phenotypes in OMIM (MIMs #127550 & #614743) and the OMIM records were last accessed on 30 December 2025.Created: 30 Dec 2025, 7:22 p.m. | Last Modified: 30 Dec 2025, 7:22 p.m.
Panel Version: 0.2
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879; Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; dyskeratosis congenita, autosomal dominant 1, MONDO:0007485; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- dyskeratosis congenita, autosomal dominant 1, MONDO:0007485
- Dyskeratosis congenita, autosomal dominant 1, OMIM:127550
- pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743
- Tags
- OMIM
- 602322
- Clinvar variants
- Variants in TERC
- Penetrance
- None
- Panels with this gene
-
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- DDG2P
- Familial pulmonary fibrosis
- COVID-19 research
- Pigmentary skin disorders
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Polycystic liver disease
History Filter Activity
Added Tag
Achchuthan Shanmugasundram (Genomics England Curator)Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: TERC was added gene: TERC was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to dyskeratosis congenita, autosomal dominant 1, MONDO:0007485; Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743