Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria
Gene: TERTMode 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.
TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list
Phenotypes for gene TERT were set to 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;
Model of inheritance for gene TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Radboud University Medical Center, Nijmegen
TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: UKGTN Model of inheritance for gene TERT was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Illumina TruGenome Clinical Sequencing Services Model of inheritance for gene TERT was set to BIALLELIC, autosomal or pseudoautosomal
TERT was created by ellenmcdonagh
TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Eligibility statement prior genetic testing