Ductal plate malformation
Gene: TERTEnsemblGeneIds (GRCh38): ENSG00000164362
EnsemblGeneIds (GRCh37): ENSG00000164362
OMIM: 187270, Gene2Phenotype
TERT is in 28 panels
1 review
Ivone Leong (Genomics England Curator)
Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that RTEL1 will remain as an amber gene.Created: 26 Nov 2018, 2:54 p.m.
Confirmed to cause Dyskeratosis congenita on Gene2Phenotype. There are several probands who have this variants in this gene and also display a liver phenotype, which might not be related to ductal plate malformation; however, all variants a substitution mutations (3/23 according to OMIM). Therefore, promoted from red to amber.Created: 12 Nov 2018, 1:55 p.m.
Publications
Details
- Mode of Inheritance
- BOTH monoallelic and biallelic, autosomal or pseudoautosomal
- Sources
-
- NHS GMS
- Expert Review Amber
- Illumina TruGenome Clinical Sequencing Services
- Phenotypes
-
- {Dyskeratosis congenita, autosomal dominant 2} (613989)
- {Dyskeratosis congenita, autosomal recessive 4} (613989)
- OMIM
- 187270
- Clinvar variants
- Variants in TERT
- Penetrance
- None
- Publications
- Panels with this gene
-
- Childhood solid tumours cancer susceptibility
- Haematological malignancies cancer susceptibility
- Cytopenia - NOT Fanconi anaemia
- Childhood onset dystonia, chorea or related movement disorder
- Pulmonary fibrosis familial
- Familial pulmonary fibrosis
- Cytopenias and congenital anaemias
- Cerebellar hypoplasia
- COVID-19 research
- Intestinal failure or congenital diarrhoea
- Skeletal dysplasia
- Ataxia and cerebellar anomalies - narrow panel
- Surfactant deficiency
- Childhood solid tumours
- Haematological malignancies for rare disease
- Inherited predisposition to acute myeloid leukaemia (AML)
- Sarcoma susceptibility
- Hereditary ataxia with onset in adulthood
- Intellectual disability
- Ductal plate malformation
- Pigmentary skin disorders
- Adult solid tumours cancer susceptibility
- Familial melanoma
- Mosaic skin disorders - deep sequencing
- Primary immunodeficiency or monogenic inflammatory bowel disease
- Fetal anomalies
- DDG2P
- Polycystic liver disease
History Filter Activity
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TERT. Added phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989); {Dyskeratosis congenita, autosomal recessive 4} (613989) for gene: TERT Publications for gene TERT were changed from 19936245; 21483807; 21436073 to 21436073; 19936245; 21483807
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: Confirmed to cause Dyskeratosi
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: tert has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TERT were set to
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to TERT. Rating Changed from Red List (low evidence) to Amber List (moderate evidence)
Created, Added New Source, Set mode of inheritance, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TERT was added gene: TERT was added to Ductal plate malformation (DPM). Sources: Illumina TruGenome Clinical Sequencing Services Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Phenotypes for gene: TERT were set to {Dyskeratosis congenita, autosomal recessive 4} (613989); {Dyskeratosis congenita, autosomal dominant 2} (613989)