TERT

telomerase reverse transcriptase
OMIM: 187270, Gene2Phenotype

13 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 13 panels
Green TERT in Bone Marrow Failure Level 2: Haematological disorders Version 1.118 Component of the following Super Panels: Immunological disorders_SuperPanel	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
Amber TERT in Cerebellar and Pontocerebellar Hypoplasia Level 2: Neurology and neurodevelopmental disorders Version 1.80	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Expert Review Phenotypes Autosomal Recessive Dyskeratosis Congenita 4 (MIM#613989)
Green TERT in Mendeliome Version 1.2655	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
Green TERT in Cancer Predisposition_Paediatric Level 2: Cancer Version 0.131	review	Unknown	Sources Victorian Clinical Genetics Services Expert Review Green
Green TERT in Pulmonary Fibrosis_Interstitial Lung Disease Level 2: Respiratory disorders Version 0.87	review	Unknown	Sources Expert Review Green Victorian Clinical Genetics Services Victorian Clinical Genetics Services Expert Review Green
Amber TERT in Combined Immunodeficiency Level 2: Immunological disorders Version 1.121 Component of the following Super Panels: Immunological disorders_SuperPanel	review	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
Green TERT in Intellectual disability syndromic and non-syndromic Level 2: Neurology and neurodevelopmental disorders Version 1.174	review	BOTH monoallelic and 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
Green TERT in Skeletal dysplasia Level 3: Skeletal dysplasias Level 2: Skeletal disorders Version 0.310	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Illumina TruGenome Clinical Sequencing Services UKGTN Expert Review Green NHS GMS Expert list Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, autosomal dominant 2 and autosomal recessive 4 613989
Amber TERT 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
Amber TERT in Fetal anomalies Version 1.370	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Genomics England PanelApp Expert list Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM #613989 Hoyeraal-Hreidarsson syndrome
Green TERT in IBMDx study Version 0.35	review	Unknown	Sources Expert Review Green IBMDx Study Expert Review Green Victorian Clinical Genetics Services Phenotypes Dyskeratosis congenita, MIM# 613989 Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, MIM# 614742
Amber TERT in Genomic newborn screening: BabyScreen+ Level 2: Screening Version 1.121	review	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 1.3	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