TERC

telomerase RNA component
OMIM: 602322, Gene2Phenotype

15 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 15 panels
Red TERC in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Curated sources Expert Review Red Expert Review Red Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma
Green TERC in COVID-19 research Level 2: Viral research Version 1.147	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green IUIS Classification February 2018 IUIS Classification December 2019 GRID V2.0 Victorian Clinical Genetics Services ESID Registry 20171117 IUIS Classification December 2019 IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome Bone marrow failure Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation Dyskeratosis congenita 1 Combined immunodeficiencies with associated or syndromic features Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients microcephaly, neurodevelopmental delay Tags locus-type-rna-long-non-coding
Green TERC in Familial pulmonary fibrosis Level 3: Interstitial lung disorders Level 2: Respiratory disorders Version 1.32	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green Eligibility statement prior genetic testing Phenotypes {Pulmonary fibrosis, idiopathic, susceptibility to}, 614743 Tags locus-type-rna-long-non-coding
Green TERC in Childhood solid tumours Level 2: Cancer susceptibility Version 5.10 Latest signed off version: v5.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 Tags locus-type-rna-long-non-coding
Green TERC in Pigmentary skin disorders Level 2: Dermatology Version 4.21 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources London North GLH NHS GMS Expert Review Green Phenotypes DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT 1 Dyskeratosis congenita DKCA1 Tags locus-type-rna-long-non-coding
Amber TERC in Ductal plate malformation Version 1.31	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Amber Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosiscongenita, autosomal dominant 1 (127550) Tags locus-type-rna-long-non-coding
Amber TERC in Polycystic liver disease Level 2: Gastrohepatology Version 1.32 Latest signed off version: v1.26 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS NHS GMS Radboud University Medical Center, Nijmegen Phenotypes Dyskeratosiscongenita, autosomal dominant 1, OMIM:127550 Tags locus-type-rna-long-non-coding
Green TERC in Inherited predisposition to acute myeloid leukaemia (AML) Level 2: Haematology Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Green North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes Dyskeratosis congenita, autosomal dominant 1, OMIM:127550 {Aplastic anemia}, OMIM:614743 Tags locus-type-rna-long-non-coding
Amber TERC in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.99 Latest signed off version: v8.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources IUIS Classification December 2019 Expert Review Amber IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients Dyskeratosis congenita Hoyeraal-Hreidarsson syndrome microcephaly, neurodevelopmental delay Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation Bone marrow failure Dyskeratosis congenita 1 Combined immunodeficiencies with associated or syndromic features Tags locus-type-rna-long-non-coding
Amber TERC in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.124	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber UKGTN Expert list Eligibility statement prior genetic testing Phenotypes Inherited Bone Marrow Failure Syndromes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2 Dyskeratosis congenita Dyskeratosis Congenita, Autosomal Dominant, 1 Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1 Tags locus-type-rna-long-non-coding
Green TERC in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources NHS GMS Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 1, 127550 Tags locus-type-rna-long-non-coding
Green TERC in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.40 Latest signed off version: v4.0 (22 Mar 2023)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Curated sources Phenotypes Class: BM failure syndrome (typ AR) Dyskeratosis congenita MDS, AML Bone marrow failure, macrocytosis Skin, head and neck, and anogenital squamous cell cancers, Oral and GI squamous cell carcinoma Tags locus-type-rna-long-non-coding
Green TERC in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH Phenotypes Inherited Bone Marrow Failure Syndromes - Aplastic Anaemia 614743 pulmonary fibrosis and/or bone marrow failure 129550 Dyskeratosis congenita, autosomal dominant 1 Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_2 Telomere_Related Pulmonary Fibrosis And/Or Bone Marrow Failure_1 DYSKERATOSIS CONGENITA, AUTOSOMAL DOMINANT, 1 127550 Dyskeratosis congenita, autosomal dominant 1 Dyskeratosis congenita Dyskeratosis Congenita, Autosomal Dominant, 1 Inherited Bone Marrow Failure Syndromes Tags locus-type-rna-long-non-coding
Green TERC in DDG2P Version 6.447 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green DD-Gene2Phenotype Phenotypes Dyskeratosis congenita, autosomal dominant 1 Tags locus-type-rna-long-non-coding
Green TERC in Pulmonary fibrosis familial Level 2: Respiratory Version 1.9 Latest signed off version: v1.3 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes {Pulmonary fibrosis, idiopathic, susceptibility to}, OMIM:614743 Tags locus-type-rna-long-non-coding