Cytopenias and congenital anaemias
Gene: TERTComment when marking as ready: Marked as ready after internal reviewCreated: 10 Mar 2017, 12:44 p.m.
Associated with phenotype in OMIM and as a confirmed G2P for {Dyskeratosis congenita, autosomal recessive 4}, 613989. numerous variants reported.Created: 9 Mar 2017, 4:32 p.m.
Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes
Aplastic Anemia; {Bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Coronary artery disease}; {Pulmonary fibrosis, telomere-related, 1}, 614742; {Leukemia, acute myeloid}, 601626; {Melanoma, cutaneous malignant, 9}, 615134; Inherited Bone Marrow Failure Syndromes; Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia; Telomere Related Pulmonary Fibrosis And/Or Bone Marrow Failure 1; ; Dyskeratosis congenita; {Bone marrow failure, telomere-related, 1}, 614742; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Coronary artery disease; {Pulmonary fibrosis, telomere-related, 1}, 614742; {Melanoma, cutaneous malignant, 9}, 615134; Dyskeratosis Congenita, Recessive; Dyskeratosis Congenita, Autosomal Dominant, 2; Telomere-Related Pulmonary Fibrosis And/Or Bone Marrow Failure-2; Bone marrow failure, telomere-related, 1
Mode of inheritance from the Illumina source is recessive for aplastic anemia, whereas from the UKGTN it is autosomal dominant for Telomere‐Related Pulmonary Fibrosis And/Or Bone Marrow Failure -1.Created: 29 Oct 2015, 1:52 p.m.
Phenotypes for gene: TERT were changed from Aplastic Anemia; Coronary artery disease; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis, telomere-related, 1}, 614742; {Leukemia, acute myeloid}, 601626; {Melanoma, cutaneous malignant, 9}, 615134 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989; Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 (AD)
Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.
This gene has been classified as Green List (High Evidence).
TERT was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Green
Publications for TERT were set to 15885610; 19179534; 15814878;
Phenotypes for TERT were set to Aplastic Anemia; Coronary artery disease; {Dyskeratosis congenita, autosomal recessive 4}, 613989; {Dyskeratosis congenita, autosomal dominant 2}, 613989; {Pulmonary fibrosis, telomere-related, 1}, 614742; {Leukemia, acute myeloid}, 601626; {Melanoma, cutaneous malignant, 9}, 615134
TERT was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Illumina TruGenome Clinical Sequencing Services,Expert list,Radboud University Medical Center, Nijmegen,UKGTN
TERT was created by LouiseD