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Primary immunodeficiency

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

Sophie Hambleton (Newcastle University)

I don't know

Agree immune deficiency is not a predominant feature
Created: 29 Jun 2018, 3:31 p.m.

Eleanor Williams (Genomics England Curator)

Comment on list classification: Rating gene as amber after review from Genomics England clinical team. Lack of PID phenotype in the majority of individuals.
Created: 19 Jun 2018, 9:10 a.m.
Asked for Genomics England clinical team input as to whether this gene should be rated green, even though there are enough cases, since there is incomplete penetrance and variable clinical phenotypes relating to immunodeficiency.
Created: 14 Jun 2018, 12:08 p.m.
Comment on publications: Added publications
Created: 14 Jun 2018, 10:04 a.m.
In OMIM this gene is associated with Dyskeratosis congenita, autosomal dominant 1. A severe form of this disorder is Hoyeraal-Hreidarsson syndrome which is characterised by a number of phenotypes including bone marrow failure resulting in immunodeficiency. However, asymptomatic individuals with only mild hematologic abnormalities have been observed in families with the autosomal dominant form of DC (Vulliamy et al 2006 (PMID: 16332973). OMIM reports that Vulliamy et al. (2001) (PMID:11574891) identified 3 different mutations in TERC in 3 families segregating autosomal dominant dyskeratosis congenita-1; a 821-bp deletion including the 74 3-prime basepairs of the coding region, a SNV and a 2 bp substitution. The first deletion results in barely detectable transcript levels. The other two are thought to destabilise the protein (Thiemer et al 2003, PMID: 12525685). Vulliamy et al 2006 (PMID: 16332973) report a further 3 variants in TERC in patients with autosomal dominant Dyskeratosis congenita (a 1 bp and a 4 bp deletion, and a 1 bp substitution). They also note that there is disease anticipation in families with asymptomatic parent being shown to carry the TERC mutation.
Created: 14 Jun 2018, 9:57 a.m.

Louise Daugherty (Genomics England Curator)

I don't know

added locus-type-rna-misc tag
Created: 9 Jul 2018, 8:46 a.m.
Keep Amber until more info on gene and disease association, immune deficiency is not a predominant feature in the majority of individuals
Created: 5 Jul 2018, 1:20 p.m.
OriginaI Metadata from IUIS classification table (February, 2018) downloaded 20180614. IUIS Genetic defect (original gene symbol in IUIS download): TERC .PanelApp HGNC gene symbol check: TERC . IUIS Disease: AD-DKC due to TERC deficiency . IUIS Inheritance: AD .T cells: N/A, .B cells: Variable, .IUIS Other affected cells: N/A. IUIS Associated features: Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients. IUIS Major category: Combined immunodeficiencies with associated or syndromic features. IUIS Subcategory: DyskeratosIs Congenita (DKC), Myelodysplasia, Short Telomeres
Created: 2 Jul 2018, 10:35 a.m.
This gene was absent from the original PanelApp PID panel dataset (review April 2018). However it was listed in external expert immunodeficiency diagnostic gene list(s)
GOSH or GRID. In this combined PID panel, this gene has been rated as AMBER and needs further curational review to assess pertinence prior to v1.
Created: 19 Apr 2018, 1:15 p.m.
Original metadata downloaded from ESID Registry. ESID_Gene_original: TERC, PanelApp HGNC gene symbol check: TERC, ESID classification: Main_category/ Sub_category/ PID_Diagnosis Other well defined PIDs / Dyskeratosis congenita / Dyskeratosis congenita; Other well defined PIDs / Dyskeratosis congenita / Hoyeraal-Hreidarsson syndrome
Created: 17 Apr 2018, 12:29 p.m.
Original metadata supplied by GRID. GRID Gene Symbol HGNC PanelApp check: TERC, GRID_Gene_Symbol: TERC, GRID_Transcript_ENS_Community submitted: ENST00000602385, GRID_Transcript_RefSeq: NR_001566.1, GRID_Transcript_ENS_used_on_Production: ENST00000602385
Created: 17 Apr 2018, 12:12 p.m.

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Sources
  • IUIS Classification December 2019
  • Expert Review Amber
  • IUIS Classification February 2018
  • Victorian Clinical Genetics Services
  • ESID Registry 20171117
  • GRID V2.0
Phenotypes
  • Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients
  • Dyskeratosis congenita
  • Hoyeraal-Hreidarsson syndrome
  • microcephaly, neurodevelopmental delay
  • Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation
  • Bone marrow failure
  • Dyskeratosis congenita 1
  • Combined immunodeficiencies with associated or syndromic features
Tags
locus-type-rna-misc
OMIM
602322
Clinvar variants
Variants in TERC
Penetrance
None
Publications
Panels with this gene

History Filter Activity

28 Feb 2020, Gel status: 2

Added New Source, Set Phenotypes, Set publications

Louise Daugherty (Genomics England Curator)

Source IUIS Classification December 2019 was added to TERC. Added phenotypes Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure for gene: TERC Publications for gene TERC were updated from 16332973; 11574891; 12525685 to 32048120; 12525685; 16332973; 11574891; 32086639

12 Jul 2018, Gel status: 2

Panel promoted to version 1.0

Louise Daugherty (Genomics England Curator)

2018-07-12 Louise Daugherty (Genomics England Curator) promoted panel to v1.0. Reviews were assessed, and panel was revised according to expert reviews and further in-house curation based on PanelApp guidelines. Previous panels (A- or hypo-gammaglobulinaemia, Congenital neutropaenia, Agranulocytosis, Combined B and T cell defect, Inherited complement deficiency and SCID panels) that were merged with this panel, were checked again for any changes/new reviews prior to versioning of this panel, these merged panels are now retired/made internal.

5 Jul 2018, Gel status: 2

Entity classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

Gene: terc has been classified as Amber List (Moderate Evidence).

1 Jul 2018, Gel status: 2

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TERC were set to Dyskeratosis congenita 1, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome, Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients, Combined immunodeficiencies with associated or syndromic features

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

IUIS Classification February 2018 was added to TERC. Panel: Primary immunodeficiency disorders

26 Jun 2018, Gel status: 2

Added New Source

Louise Daugherty (Genomics England Curator)

Victorian Clinical Genetics Services was added to TERC. Panel: Primary immunodeficiency disorders

19 Jun 2018, Gel status: 2

Entity classified by Genomics England curator

Eleanor Williams (Genomics England Curator)

Gene: terc has been classified as Amber List (Moderate Evidence).

14 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TERC were set to 16332973; 11574891; 12525685

14 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TERC were set to 16332973; 11574891

14 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TERC were set to 16332973; 11574891; 123456

14 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TERC were set to 16332973; 11574891

14 Jun 2018, Gel status: 2

Set publications

Eleanor Williams (Genomics England Curator)

Publications for gene: TERC were set to 16332973; 11574891

19 Apr 2018, Gel status: 2

Gene classified by Genomics England curator

Louise Daugherty (Genomics England Curator)

This gene has been classified as Amber List (Moderate Evidence).

17 Apr 2018, Gel status: 1

Added New Source, Set penetrance

Louise Daugherty (Genomics England Curator)

ESID Registry 20171117 was added to TERC. Panel: Primary immunodeficiency disorders Phenotypes for gene TERC were set to Dyskeratosis congenita 1, Dyskeratosis congenita, Hoyeraal-Hreidarsson syndrome

17 Apr 2018, Gel status: 1

Set penetrance

Louise Daugherty (Genomics England Curator)

Phenotypes for gene TERC were set to Dyskeratosis congenita 1

17 Apr 2018, Gel status: 1

Added New Source

Louise Daugherty (Genomics England Curator)

TERC was added to Primary immunodeficiency disorders panel. Sources: GRID V2.0

17 Apr 2018, Gel status: 1

Created

Louise Daugherty (Genomics England Curator)

TERC was created by Louise Daugherty