Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: TERT

Green List (high evidence)

TERT (telomerase reverse transcriptase)
EnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 26 panels

1 review

Ellen McDonagh (Genomics England Curator)

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.

Details

Mode of Inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Sources
  • Expert list
  • Radboud University Medical Center, Nijmegen
  • UKGTN
  • Illumina TruGenome Clinical Sequencing Services
  • Eligibility statement prior genetic testing
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
OMIM
187270
Clinvar variants
Variants in TERT
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Expert list

29 Oct 2015, Gel status: 3

Set Phenotypes

Ellen McDonagh (Genomics England Curator)

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;

29 Oct 2015, Gel status: 3

Set Mode of Inheritance

Ellen McDonagh (Genomics England Curator)

Model of inheritance for gene TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

29 Oct 2015, Gel status: 3

Added New Source

Ellen McDonagh (Genomics England Curator)

TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Source: Radboud University Medical Center, Nijmegen

29 Oct 2015, Gel status: 2

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

29 Oct 2015, Gel status: 1

Set Mode of Inheritance, Added New Source

Ellen McDonagh (Genomics England Curator)

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

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TERT was created by ellenmcdonagh

29 Oct 2015, Gel status: 0

Added New Source

Ellen McDonagh (Genomics England Curator)

TERT was added to Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuriapanel. Sources: Eligibility statement prior genetic testing