Pigmentary skin disorders
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
2 reviews
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, 11:31 a.m.
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- London North GLH
- NHS GMS
- Expert Review Green
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 2, OMIM:613989
- Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Familial melanoma
- Childhood solid tumours
- Pigmentary skin disorders
- Ataxia and cerebellar anomalies - narrow panel
- Intestinal failure or congenital diarrhoea
- Childhood solid tumours cancer susceptibility
- Cerebellar hypoplasia
- Intellectual disability
- Cytopenia - NOT Fanconi anaemia
- Adult solid tumours cancer susceptibility
- Polycystic liver disease
- Haematological malignancies cancer susceptibility
- Hereditary ataxia with onset in adulthood
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Mosaic skin disorders - deep sequencing
- COVID-19 research
- DDG2P
- Inherited predisposition to acute myeloid leukaemia (AML)
- Childhood onset dystonia, chorea or related movement disorder
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Childhood interstitial lung disease
- Skeletal dysplasia
- Haematological malignancies for rare disease
- Pulmonary fibrosis familial
- Fetal anomalies
- Sarcoma susceptibility
- Ductal plate malformation
History Filter Activity
Set Phenotypes
Arina Puzriakova (Genomics England Curator)Phenotypes for gene: TERT were changed from DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; Melanoma; Dyskeratosis congenita; DKCB4, INCLUDED to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Set Phenotypes, Set publications
Catherine Snow (Genomics England)Added phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 2; DKCA2, DYSKERATOSIS CONGENITA, AUTOSOMAL RECESSIVE 4, INCLUDED; DKCB4, INCLUDED for gene: TERT Publications for gene TERT were changed from to 17785587; 18460650
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 Pigmentary skin disorders. Sources: Expert Review Green,NHS GMS Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to Melanoma; Dyskeratosis congenita