This Panel is marked as Internal
Non-Fanconi anaemia
Gene: TERC
TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 panels
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 panels
2 reviews
Mark Greenslade (Bristol Genetics Laboratory)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 9 Jan 2017, 4:43 p.m.
Details
- Sources
-
- UKGTN
- Tags
- OMIM
- 602322
- Clinvar variants
- Variants in TERC
- Penetrance
- Complete
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Adult solid tumours cancer susceptibility
- Polycystic liver disease
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Haematological malignancies for rare disease
- Pulmonary fibrosis familial
- Ductal plate malformation
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood solid tumours
- Pigmentary skin disorders
History Filter Activity
29 Jul 2024, Gel status: 1
Removed Tag, Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-misc was removed from gene: TERC. Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Non-Fanconi anaemiapanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Non-Fanconi anaemiapanel. Source: UKGTN
15 Jul 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Non-Fanconi anaemiapanel. Sources: UKGTN