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Skeletal dysplasia

Gene: TERT

Green List (high evidence)

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

4 reviews

Tracy Lester (Genetics laboratory, Oxford UK)

Green List (high evidence)

green - multiple mutations. not in Bonafe et al (2015) AJMG 167A:28692892. Nosology and Classification of Genetic Skeletal Disorders: 2015 Revision. multisystem disorder caused by defective telomere maintenance. Features are variable and include bone marrow failure, pulmonary and liver fibrosis, and premature graying of the hair; Review on behalf of Tracy Lester/Michael Oldridge
Created: 6 Mar 2019, 11:44 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989

Eleanor Williams (Genomics England Curator)

I don't know

This gene was part of an initial gene list collated by Tracy Lester, Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust, February 2019 on behalf of the GMS Musculoskeletal Specialist Group; Gene symbol submitted: TERT; Initial rating suggestion: green if SD
Created: 6 Mar 2019, 11:37 a.m.

Sarah Leigh (Genomics England Curator)

Comment when marking as ready: Associated with phenotype in OMIM and G2P. At least four variants reported in Dyskeratosis congenita, autosomal recessive 4 613989 and two in Dyskeratosis congenita, autosomal dominant 2 613989
Created: 1 Aug 2016, 8:26 a.m.
Comment on phenotypes: Variants also reported in Leukemia, acute myeloid 601626, Melanoma, cutaneous malignant, 9 615134 and Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1 614742
Created: 1 Aug 2016, 8:21 a.m.

Ana Beleza (Bristol Regional Genetics Service)

Green List (high evidence)

Tier 1
Created: 17 Jun 2016, 8:09 a.m.

Mode of inheritance
BOTH monoallelic and biallelic, autosomal or pseudoautosomal

Phenotypes
{Dyskeratosis congenita, autosomal dominant 2} 613989; {Dyskeratosis congenita, autosomal recessive 4} 613989; {Leukemia, acute myeloid} 601626 ; {Melanoma, cutaneous malignant, 9} 615134; {Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1} 614742; Al-Qattan MM, et al. Liebenberg syndrome is caused by a deletion upstream to the PITX1 gene resulting in transformation of the upper limbs to reflect lower limb characteristics. Gene. 2013 Jul 15, 524(1):65-71

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

History Filter Activity

6 May 2019, Gel status: 4

Set Phenotypes

Eleanor Williams (Genomics England Curator)

Added phenotypes Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 for gene: TERT

6 Mar 2019, Gel status: 3

Added New Source, Status Update

Eleanor Williams (Genomics England Curator)

Source NHS GMS was added to TERT. Rating Changed from Green List (high evidence) to Green List (high evidence)

9 Aug 2016, Gel status: 4

panel promoted to version 1

Sarah Leigh (Genomics England Curator)

Promoted to version 1 9th August 2016

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Aug 2016, Gel status: 4

Gene classified by Genomics England curator

Sarah Leigh (Genomics England Curator)

This gene has been classified as Green List (High Evidence).

1 Aug 2016, Gel status: 2

Upload gene information

Sarah Leigh (Genomics England Curator)

TERT was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN

1 Aug 2016, Gel status: 0

Set Phenotypes

Sarah Leigh (Genomics England Curator)

Phenotypes for TERT were set to Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989

1 Aug 2016, Gel status: 0

Set Mode of Inheritance

Sarah Leigh (Genomics England Curator)

Mode of inheritance for TERT was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal

18 May 2016, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

TERT was added to Unexplained skeletal dysplasiapanel. Sources:

18 May 2016, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

TERT was created by sleigh