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
-
- Skeletal dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Pulmonary fibrosis familial
- Intellectual disability
- Childhood solid tumours cancer susceptibility
- Cerebellar hypoplasia
- Cytopenia - NOT Fanconi anaemia
- Adult solid tumours cancer susceptibility
- Polycystic liver disease
- Intestinal failure or congenital diarrhoea
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Mosaic skin disorders - deep sequencing
- COVID-19 research
- Inherited predisposition to acute myeloid leukaemia (AML)
- Pigmentary skin disorders
- Childhood interstitial lung disease
- Hereditary ataxia with onset in adulthood
- Haematological malignancies for rare disease
- Ataxia and cerebellar anomalies - narrow panel
- Sarcoma susceptibility
- Ductal plate malformation
- DDG2P
- Fetal anomalies
- Familial melanoma
- Childhood solid tumours
- Childhood onset dystonia, chorea or related movement disorder
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