Skeletal dysplasia
Gene: TERT
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
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.
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.
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
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
Added phenotypes Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989 for gene: TERT
Source NHS GMS was added to TERT. Rating Changed from Green List (high evidence) to Green List (high evidence)
Promoted to version 1 9th August 2016
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
TERT was added to Unexplained skeletal dysplasiapanel. Sources: Expert list,Illumina TruGenome Clinical Sequencing Services,UKGTN
Phenotypes for TERT were set to Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Mode of inheritance for TERT was changed to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
TERT was added to Unexplained skeletal dysplasiapanel. Sources:
TERT was created by sleigh