Familial melanoma
Gene: TERTHorn 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
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.
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: TERT were set to 23348503
Tag watchlist tag was added to gene: TERT.
Phenotypes for gene: TERT were changed from to {Melanoma, cutaneous malignant, 9}, OMIM:615134
Publications for gene: TERT were set to
Gene: tert has been classified as Amber List (Moderate Evidence).
Gene: tert has been classified as Amber List (Moderate Evidence).
Mode of inheritance for gene: TERT was changed from to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
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