Activity
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| Childhood interstitial lung disease v0.5 | TERC | Achchuthan Shanmugasundram commented on gene: TERC: TERC 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 | TERC | Achchuthan Shanmugasundram Tag locus-type-rna-long-non-coding tag was added to gene: TERC. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.2 | TERC | Achchuthan Shanmugasundram reviewed gene: TERC: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879, Dyskeratosis congenita, autosomal dominant 1, OMIM:127550, dyskeratosis congenita, autosomal dominant 1, MONDO:0007485, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | TERC |
Achchuthan Shanmugasundram gene: TERC was added gene: TERC was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: TERC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: TERC were set to dyskeratosis congenita, autosomal dominant 1, MONDO:0007485; Dyskeratosis congenita, autosomal dominant 1, OMIM:127550; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 2, MONDO:0013879; Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 2, OMIM:614743 |
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