Activity
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| Childhood interstitial lung disease v0.5 | RTEL1 | Achchuthan Shanmugasundram commented on gene: RTEL1: RTEL1 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 | RTEL1 | Achchuthan Shanmugasundram reviewed gene: RTEL1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613, Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Childhood interstitial lung disease v0.1 | RTEL1 |
Achchuthan Shanmugasundram gene: RTEL1 was added gene: RTEL1 was added to Childhood interstitial lung disease. Sources: NHS GMS,Expert Review Green Mode of inheritance for gene: RTEL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted Phenotypes for gene: RTEL1 were set to Pulmonary fibrosis and/or bone marrow failure syndrome, telomere-related, 3, OMIM:616373; pulmonary fibrosis and/or bone marrow failure, Telomere-related, 3, MONDO:0014613 |
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