Familial melanoma
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
4 reviews
Arina Puzriakova (Genomics England Curator)
Horn et al., 2013 (PMID: 23348503) identified a germline T>G variant at -57 bp from ATG start site (promoter region) of the TERT gene in a single multigenerational family with familial melanoma using linkage analysis followed by NGS.
Harland et al. 2016 (PMID: 26433962) also found the same c.-57 T>G TERT promoter variant in another multiplex family with malignant melanoma.Created: 18 Nov 2022, 11:27 a.m. | Last Modified: 18 Nov 2022, 11:27 a.m.
Panel Version: 1.13
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
{Melanoma, cutaneous malignant, 9}, OMIM:615134
Publications
Ivone Leong (Genomics England Curator)
Comment on list classification: As discussed in the GMS Inherited Cancer Specialist Test Group webex call 31st Jan 2019: The Specialist Test Group agreed that this gene should be rated amber as there is only a single family.Created: 1 Feb 2019, 9:43 a.m.
Rachel Robinson (Leeds Genetics Laboratory)
Variants in this GENE are reported as part of current diagnostic practice
Lara Hawkes (Genomics England)
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- Expert List
- Phenotypes
-
- {Melanoma, cutaneous malignant, 9}, OMIM:615134
- Tags
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Publications
- 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 publications
Arina Puzriakova (Genomics England Curator)Publications for gene: TERT were set to 23348503
Added Tag
Arina Puzriakova (Genomics England Curator)Tag watchlist tag was added to gene: TERT.
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from to {Melanoma, cutaneous malignant, 9}, OMIM:615134
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TERT were set to
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tert has been classified as Amber List (Moderate Evidence).
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tert has been classified as Amber List (Moderate Evidence).
Set mode of inheritance
Ivone Leong (Genomics England Curator)Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Created, Added New Source, Set mode of inheritance
Ivone Leong (Genomics England Curator)gene: TERT was added gene: TERT was added to Familial melanoma. Sources: Expert List,NHS GMS Mode of inheritance for gene: TERT was set to