Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: TERCEnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 16 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, 4:41 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert list
- UKGTN
- 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
- Tags
- OMIM
- 602322
- Clinvar variants
- Variants in TERC
- Penetrance
- Complete
- Panels with this gene
-
- Pulmonary fibrosis familial
- Cytopenia - NOT Fanconi anaemia
- Haematological malignancies cancer susceptibility
- Familial pulmonary fibrosis
- DDG2P
- Cytopenias and congenital anaemias
- COVID-19 research
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood interstitial lung disease
- Pigmentary skin disorders
- Haematological malignancies for rare disease
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
- Childhood solid tumours
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Polycystic liver disease
History Filter Activity
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.
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
Set Mode of Inheritance, Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: UKGTN Model of inheritance for gene TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created
Ellen McDonagh (Genomics England Curator)TERC was created by ellenmcdonagh
Added New Source
Ellen McDonagh (Genomics England Curator)TERC was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Eligibility statement prior genetic testing