TERC

telomerase RNA component
OMIM: 602322, ClinGen, DECIPHER

9 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 9 panels
Green TERC in Haematological malignancies Level 2: Cancer susceptibility Version 0.148	1 review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes MDS, AML Bone marrow failure, macrocytosis Class: BM failure syndrome (typ AR) Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Dyskeratosis congenita Tags non-coding gene
Green TERC in Bone Marrow Failure Level 2: Haematological disorders Version 2.9 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 2.588	1 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 2.5	1 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 2.10 Component of the following Super Panels: Immunological disorders_SuperPanel	1 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 1.1	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Amber BabySeq Category B gene Phenotypes Dyskeratosis congenita Tags non-coding gene
Green TERC in IBMDx study Version 1.2	1 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 Genomic newborn screening: BabyScreen+ Level 2: Screening Version 2.7	0 reviews	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources BabySeq Category B gene Expert Review Amber Phenotypes Dyskeratosis congenita Tags non-coding gene
Green TERC in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 2.0	1 review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Literature Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 1 MONDO:0007485 Tags non-coding gene