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Primary immunodeficiency or monogenic inflammatory bowel disease v2.33 TINF2 Louise Daugherty Phenotypes for gene: TINF2 were changed from DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy to Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy
Primary immunodeficiency or monogenic inflammatory bowel disease v2.32 TINF2 Louise Daugherty Phenotypes for gene: TINF2 were changed from Dyskeratosis congenita 3; Dyskeratosis congenita; Hoyeraal-Hreidarsson syndrome; 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 to DBone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay; Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay exudative retinopathy
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 TINF2 Louise Daugherty commented on gene: TINF2: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TINF2. PanelApp HGNC gene symbol check: TINF2 . IUIS Disease: AD-DKC due to TINF2 deficiency . IUIS Inheritance: AD .T cells: normal to low / normal to low .B cells: normal to low / normal to low, .IUIS Other affected cells: Hematopoietic stem cell / Hematopoietic stem cell. IUIS Associated features: Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure IUIS Subcategory: none given
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty marked gene: TINF2 as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Sophie Hambleton reviewed gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Eleanor Williams commented on gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Eleanor Williams commented on gene: TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty classified TINF2 as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty commented on TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty reviewed TINF2
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TINF2 Louise Daugherty Added gene to panel