Early onset pancytopenia and red cell disorders
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
0 reviews
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Radboud University Medical Center, Nijmegen
- Expert list
- Phenotypes
-
- Dyskeratosis congenita
- {Bone marrow failure, telomere-related, 1}, 614742
- {Dyskeratosis congenita, autosomal recessive 4}, 613989
- {Dyskeratosis congenita, autosomal dominant 2}, 613989
- {Coronary artery disease
- {Pulmonary fibrosis, telomere-related, 1}, 614742
- {Leukemia, acute myeloid}, 601626
- {Melanoma, cutaneous malignant, 9}, 615134
- Dyskeratosis Congenita, Recessive
- Dyskeratosis Congenita, Autosomal Dominant, 2
- Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure-2
- Bone marrow failure, telomere-related, 1
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- Panels with this gene
-
- Familial melanoma
- Cytopenia - NOT Fanconi anaemia
- Childhood solid tumours cancer susceptibility
- Cerebellar hypoplasia
- Adult solid tumours cancer susceptibility
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Ataxia and cerebellar anomalies - childhood onset
- Haematological malignancies cancer susceptibility
- Skeletal dysplasia
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- DDG2P
- Fetal anomalies
- Childhood interstitial lung disease
- Mosaic skin disorders - Deep sequencing
- Polycystic liver disease
- Haematological malignancies for rare disease
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- Sarcoma susceptibility
- Dystonia, chorea or related movement disorder, childhood onset
- Ductal plate malformation
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- Pigmentary skin disorders
- Hereditary ataxia, adult onset
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Early onset pancytopenia and red cell disorderspanel. Source: Illumina TruGenome Clinical Sequencing Services
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Early onset pancytopenia and red cell disorderspanel. Source: Radboud University Medical Center, Nijmegen
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list