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| COVID-19 research v0.36 | RTEL1 |
Ellen McDonagh gene: RTEL1 was added gene: RTEL1 was added to Viral susceptibility. Sources: Expert Review Green,ESID Registry 20171117,North West GLH,Victorian Clinical Genetics Services,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: RTEL1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: RTEL1 were set to 23959892; 23453664; 23591994 Phenotypes for gene: RTEL1 were set to Combined immunodeficiencies with associated or syndromic features; Hoyeraal-Hreidarsson syndrome/ Dyskeratosis congenita, 4 615190; Intrauterine growth retardation, microcephaly, nail dystrophy, sparse scalp hair and eyelashes, hyperpigmentation of skin, palmar hyperkeratosis, premalignant oral leukoplakia, pancytopenia, myelodysplasia, +/- recurrent infections. A severe phenotype with developmental delay and cerebellar hypoplasia known as Hoyeraal-Hreidarsson Syndrome (HHS) may occur in some DKC patients; Dyskeratosis congenita, 5 615190 |
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