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| Combined Immunodeficiency v0.294 | NHP2 | Zornitza Stark Marked gene: NHP2 as ready | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.294 | NHP2 | Zornitza Stark Gene: nhp2 has been classified as Green List (High Evidence). | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.294 | NHP2 | Zornitza Stark Phenotypes for gene: NHP2 were changed from to Dyskeratosis congenita, autosomal recessive 2 MIM# 613987; Shortened telomeres; Leukoplakia; Nail dystrophy; Bone marrow failure; Pancytopaenia; reticulate skin pigmentation; Thrombocytopaenia; recurrent opportunistic infections | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.293 | NHP2 | Zornitza Stark Publications for gene: NHP2 were set to | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.292 | NHP2 | Zornitza Stark Mode of inheritance for gene: NHP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.291 | NHP2 | Zornitza Stark changed review comment from: Third family reported with extreme end of the spectrum of DKC,; to: Third family reported with extreme end of the spectrum of DKC, Høyeraal-Hreidarsson syndrome. | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.291 | NHP2 | Zornitza Stark reviewed gene: NHP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31985013; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MIM# 613987, Shortened telomeres, Leukoplakia, Nail dystrophy, Bone marrow failure, Pancytopaenia, reticulate skin pigmentation, Thrombocytopaenia, recurrent opportunistic infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.291 | NHP2 | Danielle Ariti reviewed gene: NHP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301779, 18523010; Phenotypes: Dyskeratosis congenita, autosomal recessive 2 MIM# 613987, Shortened telomeres, Leukoplakia, Nail dystrophy, Bone marrow failure, Pancytopaenia, reticulate skin pigmentation, Thrombocytopaenia, recurrent opportunistic infections; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal | |||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||||
| Combined Immunodeficiency v0.0 | NHP2 |
Zornitza Stark gene: NHP2 was added gene: NHP2 was added to Combined immunodeficiency_MelbourneGenomics_AustralianGenomics_VCGS. Sources: Expert Review Green,Victorian Clinical Genetics Services,Melbourne Genomics Health Alliance Immunology Flagship Mode of inheritance for gene: NHP2 was set to Unknown |
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