TERC

telomerase RNA component
OMIM: 602322, Gene2Phenotype

7 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 7 panels
Green TERC in Bone Marrow Failure Level 2: Haematological disorders Version 1.114 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services 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 Mendeliome Version 1.2374	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services 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 0.87	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services 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 1.115 Component of the following Super Panels: Immunological disorders_SuperPanel	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 1, MIM# 127550 Tags non-coding gene
Amber TERC in Additional findings_Paediatric Level 2: Screening Version 0.278	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Dyskeratosis congenita
Green TERC in IBMDx study Version 0.35	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green IBMDx Study Victorian Clinical Genetics Services 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 BabyScreen+ newborn screening Level 2: Screening Version 1.116	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags non-coding gene