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Childhood interstitial lung disease v0.5 TERT Achchuthan Shanmugasundram commented on gene: TERT: TERT has been added to the panel for the clinical indication 'R462 Childhood interstitial lung disease' with a green rating as agreed with the NHS Genomic Medicine Service.
Childhood interstitial lung disease v0.2 TERT Achchuthan Shanmugasundram reviewed gene: TERT: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Dyskeratosis congenita, autosomal recessive 4, OMIM:613989, dyskeratosis congenita, autosomal dominant 2, MONDO:0013521, Dyskeratosis congenita, autosomal dominant 2, OMIM:613989, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 1, OMIM:614742, pulmonary fibrosis and/or bone marrow failure, Telomere-related, 1, MONDO:0013878; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Childhood interstitial lung disease v0.1 TERT Achchuthan Shanmugasundram gene: TERT was added
gene: TERT was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green
Mode of inheritance for gene: TERT was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal
Phenotypes for gene: TERT were set to 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