Non-Fanconi anaemia
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
1 review
Mark Greenslade (Bristol Genetics Laboratory)
Details
- Mode of Inheritance
- BIALLELIC, autosomal or pseudoautosomal
- Sources
-
- UKGTN
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- Aplastic Anemia
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- Panels with this gene
-
- Sarcoma susceptibility
- Ductal plate malformation
- Fetal anomalies
- Inherited predisposition to acute myeloid leukaemia (AML)
- Skeletal dysplasia
- Childhood solid tumours
- Pulmonary Fibrosis, Familial
- DDG2P
- Familial melanoma
- Cytopenia - NOT Fanconi anaemia
- Childhood solid tumours cancer susceptibility
- Pigmentary skin disorders
- Cerebellar hypoplasia
- Ataxia and cerebellar anomalies - childhood onset
- Adult solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Dystonia, chorea or related movement disorder, childhood onset
- Childhood interstitial lung disease
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Intellectual disability
- COVID-19 research
- Hereditary ataxia, adult onset
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Mosaic skin disorders - Deep sequencing
- Polycystic liver disease
- Haematological malignancies for rare disease
- Intestinal failure or congenital diarrhoea
History Filter Activity
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Non-Fanconi anaemiapanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Non-Fanconi anaemiapanel. Source: UKGTN
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Non-Fanconi anaemiapanel. Source: Illumina TruGenome Clinical Sequencing Services
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was changed to BIALLELIC, autosomal or pseudoautosomal
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was changed to BIALLELIC, autosomal or pseudoautosomal
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Non-Fanconi anaemiapanel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN