Aplastic anaemia with or without paroxysmal nocturnal haemoglobinuria

Gene: TERC

Red List (low evidence)

TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 15 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
locus-type-rna-misc
OMIM
602322
Clinvar variants
Variants in TERC
Penetrance
Complete
Panels with this gene

History Filter Activity

19 Nov 2015, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

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

29 Oct 2015, Gel status: 1

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

29 Oct 2015, Gel status: 0

Created

Ellen McDonagh (Genomics England Curator)

TERC was created by ellenmcdonagh

29 Oct 2015, Gel status: 0

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