Mosaic skin disorders - deep sequencing
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 29 panels
2 reviews
Tom Cullup (Great Ormond Street Hospital)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita; Melanoma
Rebecca Foulger (Genomics England curator)
This gene was part of an initial gene list collated by Thomas Cullup, GOSH and Veronica Kinsler, UCL, 25.Jan.2019 on behalf of the GMS Skin Specialist Test Group. Gene Symbol submitted: TERT; Suggested initial gene rating: Green; Evidence for inclusion: none provided; Evidence for exclusion: none provided; Technical notes (e.g. non-coding/CNV mutations requiring coverage?): none provided.Created: 31 Jan 2019, 2:50 p.m.
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Removed
- London North GLH
- NHS GMS
- Phenotypes
-
- Melanoma
- Dyskeratosis congenita
- Tags
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Panels with this gene
-
- Cytopenia - NOT Fanconi anaemia
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Skeletal dysplasia
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Intestinal failure or congenital diarrhoea
- Ataxia and cerebellar anomalies - narrow panel
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Intellectual disability
- Hereditary ataxia with onset in adulthood
- Pigmentary skin disorders
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Childhood onset dystonia, chorea or related movement disorder
- DDG2P
- Polycystic liver disease
- Fetal anomalies
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Surfactant deficiency
- Childhood solid tumours
- Sarcoma susceptibility
- Childhood interstitial lung disease
- Ductal plate malformation
- Adult solid tumours cancer susceptibility
History Filter Activity
Added Tag
Arina Puzriakova (Genomics England Curator)Tag curated_removed tag was added to gene: TERT.
Added New Source, Status Update
Catherine Snow (Genomics England)Source Expert Review Removed was added to TERT. Rating Changed from Green List (high evidence) to No List (delete)
Added New Source
Rebecca Foulger (Genomics England curator)Source London North GLH was added to TERT.
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Rebecca Foulger (Genomics England curator)gene: TERT was added gene: TERT was added to Mosaic skin disorders - deep sequencing. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERT was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita