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Primary immunodeficiency or monogenic inflammatory bowel disease v2.581 TERT Arina Puzriakova Phenotypes for gene: TERT were changed from 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; Bone marrow failure to Dyskeratosis congenita, autosomal dominant 2, OMIM:613989; Dyskeratosis congenita, autosomal recessive 4, OMIM:613989
Primary immunodeficiency or monogenic inflammatory bowel disease v2.31 TERT Louise Daugherty Phenotypes for gene: TERT were changed from Dyskeratosis congenita 2 613989, Dyskeratosis congenita 4 613989; 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 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; Bone marrow failure
Primary immunodeficiency or monogenic inflammatory bowel disease v2.28 TERT Louise Daugherty commented on gene: TERT: OriginaI Metadata from IUIS classification table (December, 2019). IUIS Genetic defect (original gene symbol in IUIS download): TERT .PanelApp HGNC gene symbol check: TERT . IUIS Disease: AD/AR-DKC due to TERT deficiency . IUIS Inheritance: AD or AR .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 / Bone marrow failure, pulmonary and hepatic fibrosis, nail dystrophy, leukoplakia, reticulate skin pigmentation; microcephaly, neurodevelopmental delay. IUIS Major category: Bone marrow failure, UIS Subcategory: none given
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty marked gene: TERT as ready
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty commented on gene: TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Sophie Hambleton reviewed gene: TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Eleanor Williams classified TERT as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Eleanor Williams commented on gene: TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Eleanor Williams commented on gene: TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Eleanor Williams commented on gene: TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty classified TERT as Amber List (moderate evidence)
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty commented on TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty commented on TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty commented on TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty reviewed TERT
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty Added gene to panel
Primary immunodeficiency or monogenic inflammatory bowel disease TERT Louise Daugherty Added gene to panel