Cytopenias and congenital anaemias
Gene: TERCEnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 panels
3 reviews
Arianna Tucci (Genomics England Curator)
the cited paper shows that mutations in the TERC gene are an improbable diagnosis in patients with otherwise typical AA, PNH, and MDS. Hovever, mutations in TERC cause autosomal domiant dyskeratosis congenital and AA can be a presenting featureCreated: 9 Mar 2017, 4:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Dyskeratosis congenita, autosomal dominant 1 127550
Publications
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 9 Jan 2017, 4:40 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- UKGTN
- Expert list
- Eligibility statement prior genetic testing
- Phenotypes
-
- Inherited Bone Marrow Failure Syndromes
- Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia
- Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2
- Dyskeratosis congenita
- Dyskeratosis Congenita, Autosomal Dominant, 1
- Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1
- DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
- Tags
- OMIM
- 602322
- Clinvar variants
- Variants in TERC
- Penetrance
- Complete
- Panels with this gene
-
- Polycystic liver disease
- DDG2P
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Cytopenias and congenital anaemias
- Familial pulmonary fibrosis
- COVID-19 research
- Pigmentary skin disorders
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Removed Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-misc was removed from gene: TERC.
panel promoted to version 1
Arianna Tucci (Genomics England Curator)Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
Added New Source
Sarah Leigh (Genomics England Curator)TERC was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber
Added New Source
Louise Daugherty (Genomics England Curator)TERC was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Expert list,UKGTN
Created
Louise Daugherty (Genomics England Curator)TERC was created by LouiseD