Cytopenias and congenital anaemiasGene: TERC
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 feature
Created: 9 Mar 2017, 4:31 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Dyskeratosis congenita, autosomal dominant 1 127550
Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 9 Jan 2017, 4:40 p.m.
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
TERC was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber
TERC was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Expert list,UKGTN
TERC was created by LouiseD