Polycystic liver disease
Gene: TERCEnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 15 panels
1 review
Ivone Leong (Genomics England Curator)
Comment when marking as ready: As discussed in the GMS Gastrohepatology Specialist Test Group webex call 14th Jan 2019: The Specialist Test Group agreed that there is not enough evidence to rate this gene green. Therefore, this gene has been given an amber rating.Created: 12 Mar 2019, 11:28 a.m.
Comment when marking as ready: After discussion with Anna de Burca (Genomics England) and Bill Griffiths (Cambridge University Hospitals), it was decided that TERC will remain as an amber gene.Created: 26 Nov 2018, 2:52 p.m. | Last Modified: 1 Nov 2019, 10:24 a.m.
Panel Version: 0.8
The gene is confirmed for causing Dskeratosis congenita on Gene2Phenotype; however, very few cases have been reported to have a liver phenotype. Therefore, have promoted from red to amber.Created: 12 Nov 2018, 1:55 p.m.
Publications
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
- Sources
-
- Expert Review Amber
- NHS GMS
- NHS GMS
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550
- Tags
- OMIM
- 602322
- Clinvar variants
- Variants in TERC
- Penetrance
- None
- Publications
- Panels with this gene
-
- 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
- Haematological malignancies cancer susceptibility
- Pigmentary skin disorders
- COVID-19 research
- Haematological malignancies for rare disease
- Ductal plate malformation
- Childhood solid tumours
- Adult solid tumours cancer susceptibility
- Pulmonary fibrosis familial
- Polycystic liver disease
History Filter Activity
Added Tag
Sarah Leigh (Genomics England Curator)Tag locus-type-rna-long-non-coding tag was added to gene: TERC.
Set Phenotypes
Ivone Leong (Genomics England Curator)Phenotypes for gene: TERC were changed from Dyskeratosiscongenita, autosomal dominant 1 (127550) to Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: terc has been classified as Amber List (Moderate Evidence).
Created, Added New Source, Set mode of inheritance, Set publications, Set Phenotypes
Ivone Leong (Genomics England Curator)gene: TERC was added gene: TERC was added to Polycystic liver disease interim. Sources: Expert Review Amber,NHS GMS Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: TERC were set to 21436073; 19936245; 22341970 Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)