Childhood interstitial lung disease
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
1 review
Achchuthan Shanmugasundram (Genomics England Curator)
TERT 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 #613989 & #614742) 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
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; dyskeratosis congenita, autosomal dominant 2, MONDO:0013521; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- Expert Review Green
- NHS GMS
- Phenotypes
-
- Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- dyskeratosis congenita, autosomal dominant 2, MONDO:0013521
- pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Intellectual disability
- DDG2P
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Intestinal failure or congenital diarrhoea
- Pigmentary skin disorders
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Hereditary ataxia with onset in adulthood
- Pulmonary fibrosis familial
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Childhood onset dystonia, chorea or related movement disorder
- Cerebellar hypoplasia
- COVID-19 research
- Surfactant deficiency
- Sarcoma susceptibility
- Childhood interstitial lung disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Fetal anomalies
History Filter Activity
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Achchuthan Shanmugasundram (Genomics England Curator)gene: TERT was added gene: TERT was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; dyskeratosis congenita, autosomal dominant 2, MONDO:0013521; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878