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
-
- Skeletal dysplasia
- Pulmonary fibrosis familial
- 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)
- Childhood interstitial lung disease
- Primary immunodeficiency or monogenic inflammatory bowel 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
- Pigmentary skin disorders
- Intellectual disability
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