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Cytopenias and congenital anaemias

Gene: TERC

Amber List (moderate evidence)

TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 15 panels

3 reviews

Arianna Tucci (Genomics England Curator)

I don't know

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

Phenotypes
Dyskeratosis congenita, autosomal dominant 1 127550

Publications

BRIDGE consortium (NIHRBR-RD)

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Phenotypes
Dyskeratosis congenita

Publications

Variants in this GENE are reported as part of current diagnostic practice

Ellen McDonagh (Genomics England Curator)

Added tag to explain why there is no Ensembl gene ID for this entity.
Created: 9 Jan 2017, 4:40 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • Expert Review Amber
  • UKGTN
  • Expert list
  • 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
  • Dyskeratosis Congenita, Autosomal Dominant, 1
  • Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1
  • DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1
Tags
locus-type-rna-misc
OMIM
602322
Clinvar variants
Variants in TERC
Penetrance
Complete
Panels with this gene

History Filter Activity

11 Mar 2017, Gel status: 2

panel promoted to version 1

Arianna Tucci (Genomics England Curator)

Promoted to V1 on 11 March 2017, after internal review and discussion with the clinical team.

9 Mar 2017, Gel status: 2

Added New Source

Sarah Leigh (Genomics England Curator)

TERC was added to Cytopaenias and congenital anaemiaspanel. Source: Expert Review Amber

17 Feb 2017, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TERC was added to Cytopaenias and congenital anaemiaspanel. Sources: Eligibility statement prior genetic testing,Expert list,UKGTN

17 Feb 2017, Gel status: 0

Created

Louise Daugherty (Genomics England Curator)

TERC was created by LouiseD