Ductal plate malformation
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: 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, 2:52 p.m.
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
-
- NHS GMS
- Expert Review Amber
- Radboud University Medical Center, Nijmegen
- Phenotypes
-
- Dyskeratosiscongenita, autosomal dominant 1 (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.
Added New Source, Set Phenotypes, Set publications
Ivone Leong (Genomics England Curator)Source NHS GMS was added to TERC. Added phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) for gene: TERC Publications for gene TERC were changed from 22341970; 21436073; 19936245 to 21436073; 19936245; 22341970
Panel promoted to version 1.0
Ellen McDonagh (Genomics England Curator)Ivone Leong: The gene is confirmed for caus
Entity classified by Genomics England curator
Ivone Leong (Genomics England Curator)Gene: terc has been classified as Amber List (Moderate Evidence).
Set publications
Ivone Leong (Genomics England Curator)Publications for gene: TERC were set to
Added New Source, Status Update
Ivone Leong (Genomics England Curator)Source Expert Review Amber was added to TERC. 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: TERC was added gene: TERC was added to Ductal plate malformation (DPM). Sources: Radboud University Medical Center, Nijmegen Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Phenotypes for gene: TERC were set to Dyskeratosiscongenita, autosomal dominant 1 (127550)