TERC:Ensemblv115

telomerase RNA component
OMIM: 602322, ClinGen, DECIPHER

5 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 5 panels
Green TERC in Bone Marrow Failure Level 2: Haematological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743 Tags non-coding gene
Green TERC in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743 Tags non-coding gene
Amber TERC in Combined Immunodeficiency Level 2: Immunological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services Melbourne Genomics Health Alliance Immunology Flagship Expert Review Amber Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Tags non-coding gene
Green TERC in IBMDx study Version 1.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Victorian Clinical Genetics Services IBMDx Study Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, MIM# 614743 Tags non-coding gene
Amber TERC in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.0	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Dyskeratosis congenita Tags non-coding gene