Skeletal dysplasia
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
4 reviews
Tracy Lester (Genetics laboratory, Oxford UK)
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 OldridgeCreated: 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)
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 SDCreated: 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 613989Created: 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 614742Created: 1 Aug 2016, 8:21 a.m.
Ana Beleza (Bristol Regional Genetics Service)
Tier 1Created: 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
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Green
- Illumina TruGenome Clinical Sequencing Services
- Expert list
- UKGTN
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- Complete
- Panels with this gene
-
- Fetal anomalies
- Skeletal dysplasia
- Polycystic liver disease
- Childhood solid tumours cancer susceptibility
- Childhood onset dystonia, chorea or related movement disorder
- Cytopenia - NOT Fanconi anaemia
- Inherited predisposition to acute myeloid leukaemia (AML)
- Cytopenias and congenital anaemias
- Primary immunodeficiency or monogenic inflammatory bowel disease
- DDG2P
- Familial pulmonary fibrosis
- Cerebellar hypoplasia
- Haematological malignancies cancer susceptibility
- Intestinal failure or congenital diarrhoea
- Intellectual disability
- Pigmentary skin disorders
- COVID-19 research
- Surfactant deficiency
- Haematological malignancies for rare disease
- Hereditary ataxia with onset in adulthood
- Sarcoma susceptibility
- Ataxia and cerebellar anomalies - narrow panel
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Familial melanoma
- Mosaic skin disorders - deep sequencing
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Set Phenotypes
Eleanor Williams (Genomics England Curator)Added phenotypes Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 for gene: TERT
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)
panel promoted to version 1
Sarah Leigh (Genomics England Curator)Promoted to version 1 9th August 2016
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Gene classified by Genomics England curator
Sarah Leigh (Genomics England Curator)This gene has been classified as Green List (High Evidence).
Upload gene information
Sarah Leigh (Genomics England Curator)TERT was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN
Set Phenotypes
Sarah Leigh (Genomics England Curator)Phenotypes for TERT were set to Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Set Mode of Inheritance
Sarah Leigh (Genomics England Curator)Mode of inheritance for TERT was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Added New Source
Sarah Leigh (Genomics England Curator)TERT was added to Unexplained skeletal dysplasiapanel. Sources:
Created
Sarah Leigh (Genomics England Curator)TERT was created by sleigh