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This Panel is marked as Internal

Anaemias and red cell disorders
Gene: TERC

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

2 reviews

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

Created: 16 Jan 2017, 3:47 p.m.

Panel version: 0.9

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.

Created: 9 Jan 2017, 4:40 p.m.

Panel version: 0.9

Details

Mode of Inheritance

MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Sources

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-long-non-coding

OMIM

602322

Clinvar variants

Variants in TERC

Penetrance

Complete

Panels with this gene

History Filter Activity

29 Jul 2024, Gel status: 1

Removed Tag, Added Tag

Sarah Leigh (Genomics England Curator)

Tag locus-type-rna-misc was removed from gene: TERC. Tag locus-type-rna-long-non-coding tag was added to gene: TERC.

22 Jul 2016, Gel status: 1

Added New Source

Ellen McDonagh (Genomics England Curator)

TERC was added to Anaemias and red cell disorderspanel. Sources: Eligibility statement prior genetic testing,UKGTN,Expert list

22 Jul 2016, Gel status: 0

Created