This Panel is marked as Internal
Congenital anaemias
Gene: TERT
TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
0 reviews
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
- Adult solid tumours cancer susceptibility
- Familial melanoma
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Polycystic liver disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Skeletal dysplasia
- Pulmonary fibrosis familial
- Cerebellar hypoplasia
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Familial pulmonary fibrosis
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Ataxia and cerebellar anomalies - narrow panel
- Intestinal failure or congenital diarrhoea
- Childhood onset dystonia, chorea or related movement disorder
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Mosaic skin disorders - deep sequencing
- Pigmentary skin disorders
- Haematological malignancies for rare disease
History Filter Activity
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Congenital anaemiaspanel. Source: UKGTN
30 Sep 2015, Gel status: 2
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERT was set to BIALLELIC, autosomal or pseudoautosomal
30 Sep 2015, Gel status: 2
Added New Source
Ellen McDonagh (Genomics England Curator)TERT was added to Congenital anaemiaspanel. Source: Illumina TruGenome Clinical Sequencing Services
28 Apr 2015, Gel status: 2
Added New Source
GEL ()TERT was added to Congenital anaemiaspanel. Sources: UKGTN
28 Apr 2015, Gel status: 1
Added New Source
GEL ()TERT was added to Congenital anaemiaspanel. Sources: Illumina TruGenome Clinical Sequencing Services