Bone Marrow Failure
Gene: TERC
TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 7 panels
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 7 panels
1 review
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
Details
- Mode of Inheritance
- MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
- Sources
-
- Expert Review Green
- Victorian Clinical Genetics Services
- Phenotypes
-
- Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
- OMIM
- 602322
- Clinvar variants
- Variants in TERC
- Penetrance
- None
- Panels with this gene
History Filter Activity
2 Apr 2020, Gel status: 3
Entity classified by Genomics England curator
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Gene: terc has been classified as Green List (High Evidence).
2 Apr 2020, Gel status: 3
Set Phenotypes
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Phenotypes for gene: TERC were changed from to Dyskeratosis congenita, autosomal dominant 1, MIM# 127550
2 Apr 2020, Gel status: 3
Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)Mode of inheritance for gene: TERC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
17 Nov 2019, Gel status: 3
Created, Added New Source, Set mode of inheritance
Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)gene: TERC was added gene: TERC was added to Bone Marrow Failure_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services Mode of inheritance for gene: TERC was set to Unknown