TERT

telomerase reverse transcriptase
OMIM: 187270, Gene2Phenotype

28 panels

Panel	Reviews	Mode of inheritance	Details
Filter panels 28 panels
Green TERT in Haematological malignancies for rare disease Level 3: Tumour syndromes Level 2: Tumour syndromes Version 1.19	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes {Leukemia, acute myeloid}, OMIM:601626 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 COVID-19 research Level 2: Viral research Version 1.146	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green IUIS Classification February 2018 GRID V2.0 Victorian Clinical Genetics Services ESID Registry 20171117 IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Green TERT 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 Emory Genetics Laboratory Illumina TruGenome Clinical Sequencing Services Radboud University Medical Center, Nijmegen Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Amber TERT in Ataxia and cerebellar anomalies - narrow panel Level 2: Neurology Version 8.63 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Hereditary ataxia and cerebellar anomalies - childhood onset	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags watchlist
Green TERT in Childhood solid tumours Level 2: Cancer susceptibility Version 5.9 Latest signed off version: v5.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS 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 {Leukemia, acute myeloid}, OMIM:601626 {Melanoma, cutaneous malignant, 9}, OMIM:615134
Amber TERT in Familial melanoma Level 2: Inherited cancer Version 2.5 Latest signed off version: v2.0 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Amber NHS GMS Expert List Phenotypes {Melanoma, cutaneous malignant, 9}, OMIM:615134 Tags watchlist
Green TERT in Intestinal failure or congenital diarrhoea Level 2: Gastrohepatology Version 3.7 Latest signed off version: v3.0 (22 Mar 2023)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Green TERT in Pigmentary skin disorders Level 2: Dermatology Version 4.13 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources London North GLH NHS GMS Expert Review Green Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Amber TERT in Ductal plate malformation Version 1.31	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Amber Illumina TruGenome Clinical Sequencing Services Phenotypes {Dyskeratosis congenita, autosomal dominant 2} (613989) {Dyskeratosis congenita, autosomal recessive 4} (613989)
Amber TERT in Polycystic liver disease Level 2: Gastrohepatology Version 1.32 Latest signed off version: v1.26 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber NHS GMS NHS GMS Illumina TruGenome Clinical Sequencing Services Phenotypes {Dyskeratosis congenita, autosomal dominant 2}, OMIM:613989 {Dyskeratosis congenita, autosomal recessive 4}, OMIM:613989
Green TERT in Inherited predisposition to acute myeloid leukaemia (AML) Level 2: Haematology Version 3.5 Latest signed off version: v3.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH NHS GMS Wessex and West Midlands GLH Phenotypes {Leukemia, acute myeloid}, OMIM:601626 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
Amber TERT in Primary immunodeficiency or monogenic inflammatory bowel disease Level 2: Immunology Version 8.78 Latest signed off version: v8.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Amber IUIS Classification February 2018 Victorian Clinical Genetics Services ESID Registry 20171117 GRID V2.0 Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989 Tags missense
Green TERT in Cytopenias and congenital anaemias Level 3: Anaemias and red cell disorders Level 2: Haematological disorders Version 1.123	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Eligibility statement prior genetic testing UKGTN Illumina TruGenome Clinical Sequencing Services Expert list Radboud University Medical Center, Nijmegen 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 (AD)
No list TERT in Mosaic skin disorders - deep sequencing Level 2: Dermatology Version 3.27 Latest signed off version: v3.0 (30 Apr 2025)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Removed London North GLH NHS GMS Phenotypes Melanoma Dyskeratosis congenita Tags curated_removed
Green TERT in Childhood solid tumours cancer susceptibility Level 3: Pertinent cancer susceptibility gene panel Level 2: Cancer Programme Version 1.30	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 {Leukemia, acute myeloid}, OMIM:601626 {Melanoma, cutaneous malignant, 9}, OMIM:615134
Green TERT in Adult solid tumours cancer susceptibility Level 2: Cancer susceptibility Version 2.35 Latest signed off version: v2.2 (18 Feb 2020)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green 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 {Leukemia, acute myeloid}, OMIM:601626 {Melanoma, cutaneous malignant, 9}, OMIM:615134
Green TERT in Haematological malignancies cancer susceptibility Level 2: Cancer susceptibility Version 4.37 Latest signed off version: v4.0 (22 Mar 2023)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green Curated sources Phenotypes {Leukemia, acute myeloid}, OMIM:601626 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
Amber TERT in Cerebellar hypoplasia Level 3: Motor Disorders of the CNS Level 2: Neurology and neurodevelopmental disorders Version 1.86	review	BIALLELIC, autosomal or pseudoautosomal	Sources Literature UKGTN Illumina TruGenome Clinical Sequencing Services Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Red TERT in Surfactant deficiency Level 2: Respiratory Version 1.12 Latest signed off version: v1.2 (2 Mar 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Red NHS GMS
Green TERT in Skeletal dysplasia Level 2: Musculoskeletal Version 8.34 Latest signed off version: v8.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources NHS GMS Expert Review Green Expert list Illumina TruGenome Clinical Sequencing Services UKGTN Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989 Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Green TERT in Cytopenia - NOT Fanconi anaemia Level 2: Haematology Version 4.32 Latest signed off version: v4.0 (30 Apr 2025)	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources Expert Review Green North West GLH Yorkshire and North East GLH London South GLH NHS GMS Wessex and West Midlands GLH 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
Red TERT in Fetal anomalies Level 2: Fetal (including NIPD) Version 6.140 Latest signed off version: v6.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red PAGE DD-Gene2Phenotype Phenotypes Dyskeratosis congenita, autosomal recessive 4
Green TERT in DDG2P Version 6.424 Latest signed off version: v6.0 (30 Apr 2025) Component of the following Super Panels: Paediatric disorders	review	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Sources DD-Gene2Phenotype Expert Review Green Phenotypes Dyskeratosis congenita, autosomal recessive 4
Amber TERT in Intellectual disability Level 2: Developmental disorders Version 9.281 Latest signed off version: v9.0 (30 Apr 2025) Component of the following Super Panels: Childhood onset leukodystrophy Hypotonic infant Paediatric disorders	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Amber BRIDGE study SPEED NEURO Tier1 Gene Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Red TERT in Hereditary ataxia with onset in adulthood Level 2: Neurology Version 8.23 Latest signed off version: v8.0 (30 Apr 2025)	review	BIALLELIC, autosomal or pseudoautosomal	Sources Expert Review Red NHS GMS Wessex and West Midlands GLH Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Red TERT in Sarcoma susceptibility Level 2: Cancer susceptibility Version 1.82 Latest signed off version: v1.2 (18 Feb 2020)	review	MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted	Sources Expert Review Red Other Literature Phenotypes Solitary Fibrous Tumour Tags promoter somatic
Red TERT in Childhood onset dystonia, chorea or related movement disorder Level 2: Neurology Version 7.13 Latest signed off version: v7.0 (30 Apr 2025)	review	Not set	Sources Expert Review Red London North GLH
Green TERT in Pulmonary fibrosis familial Level 2: Respiratory Version 1.8 Latest signed off version: v1.3 (30 Nov 2022)	review	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Sources Expert Review Green Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742

TERT

28 panels

Green TERT in Haematological malignancies for rare disease

Sources

Phenotypes

Green TERT in COVID-19 research

Sources

Phenotypes

Green TERT in Familial pulmonary fibrosis

Sources

Phenotypes

Amber TERT in Ataxia and cerebellar anomalies - narrow panel

Sources

Phenotypes

Tags

Green TERT in Childhood solid tumours

Sources

Phenotypes

Amber TERT in Familial melanoma

Sources

Phenotypes

Tags

Green TERT in Intestinal failure or congenital diarrhoea

Sources

Phenotypes

Green TERT in Pigmentary skin disorders

Sources

Phenotypes

Amber TERT in Ductal plate malformation

Sources

Phenotypes

Amber TERT in Polycystic liver disease

Sources

Phenotypes

Green TERT in Inherited predisposition to acute myeloid leukaemia (AML)

Sources

Phenotypes

Amber TERT in Primary immunodeficiency or monogenic inflammatory bowel disease

Sources

Phenotypes

Tags

Green TERT in Cytopenias and congenital anaemias

Sources

Phenotypes

No list TERT in Mosaic skin disorders - deep sequencing

Sources

Phenotypes

Tags

Green TERT in Childhood solid tumours cancer susceptibility

Sources

Phenotypes

Green TERT in Adult solid tumours cancer susceptibility

Sources

Phenotypes

Green TERT in Haematological malignancies cancer susceptibility

Sources

Phenotypes

Amber TERT in Cerebellar hypoplasia

Sources

Phenotypes

Red TERT in Surfactant deficiency

Sources

Green TERT in Skeletal dysplasia

Sources

Phenotypes

Green TERT in Cytopenia - NOT Fanconi anaemia

Sources

Phenotypes

Red TERT in Fetal anomalies

Sources

Phenotypes

Green TERT in DDG2P

Sources

Phenotypes

Amber TERT in Intellectual disability

Sources

Phenotypes

Red TERT in Hereditary ataxia with onset in adulthood

Sources

Phenotypes