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| COVID-19 research v0.36 | NHP2 |
Ellen McDonagh gene: NHP2 was added gene: NHP2 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: NHP2 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: NHP2 were set to 25182133; 18523010; 20301779; 20008900; 25907943 Phenotypes for gene: NHP2 were set to Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; Dyskeratosis congenita, autosomal recessive 2 613987; Combined immunodeficiencies with associated or syndromic features; 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 |
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