TERT

telomerase reverse transcriptase
OMIM: 187270, ClinGen, DECIPHER

14 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 14 panels
Green TERT in Haematological malignancies Level 2: Cancer susceptibility Version 0.148	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742 {Leukemia, acute myeloid}, OMIM:601626 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Tags non-coding gene
Green TERT in Bone Marrow Failure Level 2: Haematological disorders Version 2.9 Component of the following Super Panels: Immunological disorders_SuperPanel	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags non-coding gene
Amber TERT in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 2.6	1 review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989) Tags non-coding gene
Green TERT in Mendeliome Version 2.588	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags non-coding gene
Green TERT in Cancer Predisposition_Paediatric Level 2: Cancer Version 1.2	0 reviews	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TERT in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 2.5	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags non-coding gene
Amber TERT in Combined Immunodeficiency Level 2: Immunological disorders Version 2.10 Component of the following Super Panels: Immunological disorders_SuperPanel	2 reviews	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber Melbourne Genomics Health Alliance Immunology Flagship Victorian Clinical Genetics Services Phenotypes {Dyskeratosis congenita, autosomal dominant 2}, MIM# 613989 {Dyskeratosis congenita, autosomal recessive 4}, MIM# 613989 Tags non-coding gene
Green TERT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 2.145	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Expert list Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM #613989 Dyskeratosis congenita, autosomal recessive 4, OMIM #613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM #614742 Tags non-coding gene
Red TERT in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 1.151	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Red Illumina TruGenome Clinical Sequencing Services UKGTN NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Amber TERT 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
Amber TERT in Fetal anomalies Version 2.81	2 reviews	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM #613989 Hoyeraal-Hreidarsson syndrome Tags non-coding gene
Green TERT in IBMDx study Version 1.2	1 review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green IBMDx Study Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742 Tags non-coding gene
Amber TERT 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
Green TERT in Hereditary Pigmentary Disorders Level 2: Dermatological disorders Version 2.0	1 review	BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal	Sources Expert Review Green Expert list Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita MONDO:0015780 Tags non-coding gene