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| COVID-19 research v0.36 | PARN |
Ellen McDonagh gene: PARN was added gene: PARN was added to Viral susceptibility. Sources: Expert Review Green,Victorian Clinical Genetics Services,North West GLH,GRID V2.0,NHS GMS,London North GLH,IUIS Classification February 2018 Mode of inheritance for gene: PARN was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal Publications for gene: PARN were set to 25848748; 26342108; 25893599 Phenotypes for gene: PARN were set to Pulmonary fibrosis and/or bone marrow failure,telomere-related, 4 616371; Dyskeratosis congenita, autosomal recessive 6 616353; 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; Combined immunodeficiencies with associated or syndromic features |
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