This Panel is marked as Internal
Early onset pancytopenia and red cell disorders
Gene: TERC
TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 15 panels
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 15 panels
1 review
Ellen McDonagh (Genomics England Curator)
Added tag to explain why there is no Ensembl gene ID for this entity.Created: 9 Jan 2017, 4:42 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- UKGTN
- Expert list
- Phenotypes
-
- 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
-
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Polycystic liver disease
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
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 1
Set Mode of Inheritance
Ellen McDonagh (Genomics England Curator)Model of inheritance for gene TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
30 Sep 2015, Gel status: 1
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Early onset pancytopenia and red cell disorderspanel. Source: UKGTN
30 Sep 2015, Gel status: 0
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Early onset pancytopenia and red cell disorderspanel. Sources: Expert list