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BabyScreen+ newborn screening

Gene: TERC

Amber List (moderate evidence)

TERC (telomerase RNA component)
EnsemblGeneIds (GRCh38): ENSG00000270141
EnsemblGeneIds (GRCh37): ENSG00000270141
OMIM: 602322, Gene2Phenotype
TERC is in 7 panels

0 reviews

Details

Mode of Inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Sources
  • BabySeq Category B gene
  • Expert Review Amber
Phenotypes
  • Dyskeratosis congenita
Tags
non-coding gene
OMIM
602322
Clinvar variants
Variants in TERC
Penetrance
None
Panels with this gene

History Filter Activity

14 Mar 2025, Gel status: 2

Added Tag

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

Tag non-coding gene tag was added to gene: TERC.

18 Sep 2022, Gel status: 2

Created, Added New Source, Set mode of inheritance, Set Phenotypes

Zornitza Stark (Victorian Clinical Genetics Services; Australian Genomics)

gene: TERC was added gene: TERC was added to gNBS. Sources: Expert Review Amber,BabySeq Category B gene Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to Dyskeratosis congenita