Genomics England

TERT

telomerase reverse transcriptase

Panel	Mode of inheritance	Details
Filter panels11 panels
Green in Adult solid tumours cancer susceptibility Signed-off version 2.2	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes {Dyskeratosis congenita, autosomal recessive 4}, 613989, {Dyskeratosis congenita, autosomal dominant 2}, 613989
Green in Childhood interstitial lung disease R-numbers: R462 Signed-off version 1.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989, Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, dyskeratosis congenita, autosomal dominant 2, MONDO:0013521, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878
Green in Childhood solid tumours Signed-off version 5.11	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Cytopenia - NOT Fanconi anaemia R-numbers: R91 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in DDG2P Component of the following Super Panels: - Paediatric disorders Signed-off version 7.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dyskeratosis congenita, autosomal recessive 4
Green in Haematological malignancies cancer susceptibility Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Inherited predisposition to acute myeloid leukaemia (AML) R-numbers: R347 Signed-off version 3.5	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	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 in Intestinal failure or congenital diarrhoea R-numbers: R331 Signed-off version 3.0	BIALLELIC, autosomal or pseudoautosomal	Phenotypes Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Green in Pigmentary skin disorders R-numbers: R236 Signed-off version 5.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Green in Pulmonary fibrosis familial R-numbers: R421 Signed-off version 1.9	MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown	Phenotypes Pulmonary fibrosis and/or bone marrow failure, telomere-related, 1, OMIM:614742
Green in Skeletal dysplasia Component of the following Super Panels: - Paediatric disorders R-numbers: R104 Signed-off version 9.0	BOTH monoallelic and biallelic, autosomal or pseudoautosomal	Phenotypes Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Dyskeratosis congenita, autosomal recessive 4, OMIM:613989