{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=633","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=631","results":[{"created":"2023-03-08T15:11:08.739320+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1942","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNASE2 as Green List (high evidence)","entity_name":"DNASE2","entity_type":"gene"},{"created":"2023-03-08T15:11:08.710127+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1942","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnase2 has been classified as Green List (High Evidence).","entity_name":"DNASE2","entity_type":"gene"},{"created":"2023-03-08T15:10:58.933066+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1941","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DNASE2.\nTag immunological tag was added to gene: DNASE2.","entity_name":"DNASE2","entity_type":"gene"},{"created":"2023-03-08T15:10:44.607849+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1941","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNASE2 was added\ngene: DNASE2 was added to Baby Screen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: DNASE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNASE2 were set to 29259162; 31775019\nPhenotypes for gene: DNASE2 were set to Autoinflammatory-pancytopenia syndrome, MIM# 619858\nReview for gene: DNASE2 was set to GREEN\nAdded comment: Inflammatory disorder characterized by splenomegaly, glomerulonephritis, liver fibrosis, circulating anti-DNA autoantibodies, and progressive arthritis. Three families and functional data. \r\n\r\nTreatment: baricitinib\r\n\r\nNon-genetic confirmatory testing: Interferon signature \nSources: Expert Review","entity_name":"DNASE2","entity_type":"gene"},{"created":"2023-03-08T15:05:14.748054+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1940","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC21 as ready","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2023-03-08T15:05:14.728670+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc21 has been classified as Green List (High Evidence).","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2023-03-08T15:05:00.903087+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1940","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: DNAJC21.\nTag haematological tag was added to gene: DNAJC21.","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2023-03-08T15:04:42.888815+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1940","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJC21 as Green List (high evidence)","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2023-03-08T15:04:42.876976+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1940","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc21 has been classified as Green List (High Evidence).","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2023-03-08T15:04:32.488201+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1939","user_name":"Zornitza Stark","item_type":"entity","text":"gene: DNAJC21 was added\ngene: DNAJC21 was added to Baby Screen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: DNAJC21 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJC21 were set to 29700810; 28062395; 27346687\nPhenotypes for gene: DNAJC21 were set to Bone marrow failure syndrome 3, MIM#\t617052\nReview for gene: DNAJC21 was set to GREEN\nAdded comment: Onset of pancytopenia in early childhood; variable nonspecific somatic abnormalities, including poor growth, microcephaly, and skin anomalies. \r\n\r\nTreatment: oral pancreatic enzymes, fat-soluble vitamins, blood and/or platelet transfusions, granulocyte-colony stimulation factor, bone marrow transplant\r\n\r\nConfirmatory non-genetic testing: no; FBE as pancytopenia evolves. \nSources: Expert Review","entity_name":"DNAJC21","entity_type":"gene"},{"created":"2023-03-08T14:36:37.797534+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1938","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYP2R1 as ready","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2023-03-08T14:36:37.784175+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1938","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp2r1 has been classified as Green List (High Evidence).","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2023-03-08T14:36:31.064647+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1938","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYP2R1.\nTag endocrine tag was added to gene: CYP2R1.","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2023-03-08T14:36:20.069929+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1938","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYP2R1 as Green List (high evidence)","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2023-03-08T14:36:20.058105+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1938","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyp2r1 has been classified as Green List (High Evidence).","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2023-03-08T14:36:09.974837+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1937","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYP2R1 was added\ngene: CYP2R1 was added to Baby Screen+ newborn screening. Sources: Expert Review\nMode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2R1 were set to 15128933; 28548312\nPhenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081\nReview for gene: CYP2R1 was set to GREEN\nAdded comment: At least 6 unrelated families reported.\r\n\r\nOnset is generally in infancy.\r\n\r\nGood response to vitamin D (calcifediol (25_OH_D3).\r\n\r\nConfirmatory non-genetic testing: serum calcium, parathyroid hormone, 25-hydroxy vitamin D levels \nSources: Expert Review","entity_name":"CYP2R1","entity_type":"gene"},{"created":"2023-03-08T11:59:23.001459+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1936","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C17orf62 as ready","entity_name":"C17orf62","entity_type":"gene"},{"created":"2023-03-08T11:59:22.994302+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1936","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf62 has been classified as Green List (High Evidence).","entity_name":"C17orf62","entity_type":"gene"},{"created":"2023-03-08T11:59:13.106641+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1936","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C17orf62 as Green List (high evidence)","entity_name":"C17orf62","entity_type":"gene"},{"created":"2023-03-08T11:59:13.098073+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1936","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c17orf62 has been classified as Green List (High Evidence).","entity_name":"C17orf62","entity_type":"gene"},{"created":"2023-03-08T11:59:01.200569+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1935","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C17orf62 was added\ngene: C17orf62 was added to Baby Screen+ newborn screening. Sources: Expert Review\nnew gene name, treatable, immunological tags were added to gene: C17orf62.\nMode of inheritance for gene: C17orf62 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: C17orf62 were set to 30361506; 30312704; 28351984\nPhenotypes for gene: C17orf62 were set to Chronic granulomatous disease 5, autosomal recessive, MIM# 618935\nReview for gene: C17orf62 was set to GREEN\nAdded comment: Seven Icelandic families reported with same homozygous variant, p.Tyr2Ter and an additional family from different ethnic background with different homozygous splice site variant. Functional data, including mouse model. Gene also known as EROS and CYBC1 (HGNC approved name) \r\n\r\nPrimary immunodeficiency characterized by onset of recurrent infections and severe colitis in the first decade of life. Patients often present with features of inflammatory bowel disease and may show granulomata on biopsy. Patients are particularly susceptible to catalase-positive organisms, including Burkholderia cepacia, Legionella, and Candida albicans. Some patients may develop autoinflammatory symptoms, including recurrent fever in the absence of infection, hemolytic anemia, and lymphopenia. Additional features may include short stature, viral infections, cutaneous abscesses, pulmonary infections, and lymphadenitis. Haematopoietic bone marrow transplant is curative.\r\n\r\nNon-genetic confirmatory assay:  dihydrorhodamine assay \nSources: Expert Review","entity_name":"C17orf62","entity_type":"gene"},{"created":"2023-03-08T11:53:23.255015+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYB561 as ready","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:53:23.248152+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb561 has been classified as Green List (High Evidence).","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:53:11.342927+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYB561 as Green List (high evidence)","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:53:11.314330+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb561 has been classified as Green List (High Evidence).","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:51:33.668034+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1934","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CYB561 as ready","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:51:33.653985+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1934","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb561 has been classified as Green List (High Evidence).","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:51:26.970051+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1934","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CYB561 as Green List (high evidence)","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:51:26.960798+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1934","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cyb561 has been classified as Green List (High Evidence).","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:51:17.091869+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1933","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CYB561.\nTag endocrine tag was added to gene: CYB561.","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:51:03.654890+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.701","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYB561 was added\ngene: CYB561 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYB561 were set to 29343526; 31822578\nPhenotypes for gene: CYB561 were set to Orthostatic hypotension 2, MIM#\t618182\nReview for gene: CYB561 was set to GREEN\nAdded comment: Three families reported.\r\n\r\nSevere orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood.\r\n\r\nTreatment: L-threo-3,4-dihydroxyphenylserine (droxidopa) \nSources: Expert Review","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-08T11:49:23.870859+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1933","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CYB561 was added\ngene: CYB561 was added to Baby Screen+ newborn screening. Sources: Expert list\nMode of inheritance for gene: CYB561 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYB561 were set to 29343526; 31822578\nPhenotypes for gene: CYB561 were set to Orthostatic hypotension 2, MIM#\t618182\nReview for gene: CYB561 was set to GREEN\nAdded comment: Three families reported.\r\n\r\nSevere orthostatic hypotension, recurrent hypoglycemia, and low norepinephrine levels. The disorder has onset in infancy or early childhood.\r\n\r\nTreatment: L-threo-3,4-dihydroxyphenylserine (droxidopa)\r\n\r\nNon-genetic confirmatory testing: plasma norepinephrine, epinephrine, dopamine \nSources: Expert list","entity_name":"CYB561","entity_type":"gene"},{"created":"2023-03-07T20:21:53.413858+11:00","panel_name":"Baby Screen+ newborn screening","panel_id":3931,"panel_version":"0.1932","user_name":"Zornitza Stark","item_type":"panel","text":"Panel name changed from gNBS to Baby Screen+ newborn screening\nPanel status changed from internal to public","entity_name":null,"entity_type":null},{"created":"2023-03-07T14:01:55.880982+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CR2 as ready","entity_name":"CR2","entity_type":"gene"},{"created":"2023-03-07T14:01:55.869695+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cr2 has been classified as Red List (Low Evidence).","entity_name":"CR2","entity_type":"gene"},{"created":"2023-03-07T14:01:52.511284+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1931","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CR2 were changed from Hypogammaglobulinaemia to Immunodeficiency, common variable, 7, MIM# 614699","entity_name":"CR2","entity_type":"gene"},{"created":"2023-03-07T14:01:19.299070+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1930","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CR2.\nTag immunological tag was added to gene: CR2.","entity_name":"CR2","entity_type":"gene"},{"created":"2023-03-07T14:01:05.773056+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1930","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CR2: Rating: RED; Mode of pathogenicity: None; Publications: 22035880, 26325596; Phenotypes: Immunodeficiency, common variable, 7, MIM# 614699; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CR2","entity_type":"gene"},{"created":"2023-03-07T13:49:21.449089+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1930","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CORO1A as ready","entity_name":"CORO1A","entity_type":"gene"},{"created":"2023-03-07T13:49:21.382703+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1930","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coro1a has been classified as Green List (High Evidence).","entity_name":"CORO1A","entity_type":"gene"},{"created":"2023-03-07T13:49:16.444094+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1930","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CORO1A as Green List (high evidence)","entity_name":"CORO1A","entity_type":"gene"},{"created":"2023-03-07T13:49:16.431233+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1930","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: coro1a has been classified as Green List (High Evidence).","entity_name":"CORO1A","entity_type":"gene"},{"created":"2023-03-07T13:49:05.254126+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1929","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CORO1A was added\ngene: CORO1A was added to gNBS. Sources: Expert list\nMode of inheritance for gene: CORO1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CORO1A were set to Immunodeficiency 8 MIM# 615401\nReview for gene: CORO1A was set to GREEN\nAdded comment: 3 unrelated families and 1 unrelated individual reported with bi-allelic (deletion, missense, insertion) variants, resulting in premature stop codons and truncated protein/ alter a highly conserved residue in binding domain; one mouse model\r\n\r\nAll patients displayed T−B+NK+ SCID or CID presenting in early-onset recurrent infections and additional features that included EBV-associated lymphoproliferative disease and low immunoglobulin levels.\r\n\r\nCongenital onset.\r\n\r\nTreatment: bone marrow transplant\r\n\r\nNon-genetic confirmatory testing: T and B Lymphocyte and Natural Killer Cell Profile \nSources: Expert list","entity_name":"CORO1A","entity_type":"gene"},{"created":"2023-03-07T13:30:00.572000+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1928","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDCA7 as ready","entity_name":"CDCA7","entity_type":"gene"},{"created":"2023-03-07T13:30:00.529583+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1928","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca7 has been classified as Green List (High Evidence).","entity_name":"CDCA7","entity_type":"gene"},{"created":"2023-03-07T13:29:53.183065+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1928","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDCA7 as Green List (high evidence)","entity_name":"CDCA7","entity_type":"gene"},{"created":"2023-03-07T13:29:53.172496+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1928","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdca7 has been classified as Green List (High Evidence).","entity_name":"CDCA7","entity_type":"gene"},{"created":"2023-03-07T13:29:34.963485+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1927","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CDCA7.\nTag immunological tag was added to gene: CDCA7.","entity_name":"CDCA7","entity_type":"gene"},{"created":"2023-03-07T13:29:22.089722+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1927","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDCA7 was added\ngene: CDCA7 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: CDCA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDCA7 were set to 26216346\nPhenotypes for gene: CDCA7 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 3, MIM# 616910\nReview for gene: CDCA7 was set to GREEN\nAdded comment: Congenital onset, severe disorder. At least 4 unrelated families reported.\r\n\r\nTreatment: replacement immunoglobulins, bone marrow transplant\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels, cytogenetic analysis for centromeric instability, DNA methylation studies \nSources: Expert Review","entity_name":"CDCA7","entity_type":"gene"},{"created":"2023-03-07T12:02:27.025680+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5184","user_name":"Elena Savva","item_type":"entity","text":"Classified gene: RRAS2 as Amber List (moderate evidence)","entity_name":"RRAS2","entity_type":"gene"},{"created":"2023-03-07T12:02:27.018231+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5184","user_name":"Elena Savva","item_type":"entity","text":"Gene: rras2 has been classified as Amber List (Moderate Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2023-03-07T11:26:59.960219+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5183","user_name":"Elena Savva","item_type":"entity","text":"Marked gene: RRAS2 as ready","entity_name":"RRAS2","entity_type":"gene"},{"created":"2023-03-07T11:26:59.948729+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5183","user_name":"Elena Savva","item_type":"entity","text":"Gene: rras2 has been classified as Red List (Low Evidence).","entity_name":"RRAS2","entity_type":"gene"},{"created":"2023-03-07T11:26:03.448399+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5183","user_name":"Elena Savva","item_type":"entity","text":"gene: RRAS2 was added\ngene: RRAS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RRAS2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: RRAS2 were set to PMID: 31130282; 31130285\nPhenotypes for gene: RRAS2 were set to Noonan syndrome 12 MIM#618624\nMode of pathogenicity for gene: RRAS2 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: RRAS2 was set to AMBER\nAdded comment: Gene has an established GOF mechanism\r\n\r\nPMID: 31130282 - 3/9 individuals had mild learning difficulties or mild GDD\r\n\r\nPMID: 31130285 - 1/3 individuals had mild ID, 1/3 had severe ID, 1/3 normal \nSources: Literature","entity_name":"RRAS2","entity_type":"gene"},{"created":"2023-03-06T17:55:17.934936+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1926","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD81 as ready","entity_name":"CD81","entity_type":"gene"},{"created":"2023-03-06T17:55:17.918027+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1926","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd81 has been classified as Red List (Low Evidence).","entity_name":"CD81","entity_type":"gene"},{"created":"2023-03-06T17:55:09.773629+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1926","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD81.\nTag immunological tag was added to gene: CD81.","entity_name":"CD81","entity_type":"gene"},{"created":"2023-03-06T17:54:52.865169+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1926","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD81 was added\ngene: CD81 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: CD81 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD81 were set to 20237408\nPhenotypes for gene: CD81 were set to Immunodeficiency, common variable, 6, MIM# 613496\nReview for gene: CD81 was set to RED\nAdded comment: CVID, which would be congenital, severe and treatable with replacement immunoglobulins.\r\n\r\nHowever, only a single individual reported. \nSources: Expert Review","entity_name":"CD81","entity_type":"gene"},{"created":"2023-03-06T17:50:55.314503+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1925","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD70 as ready","entity_name":"CD70","entity_type":"gene"},{"created":"2023-03-06T17:50:55.303585+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd70 has been classified as Green List (High Evidence).","entity_name":"CD70","entity_type":"gene"},{"created":"2023-03-06T17:50:50.154331+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1925","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD70 as Green List (high evidence)","entity_name":"CD70","entity_type":"gene"},{"created":"2023-03-06T17:50:50.139570+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1925","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd70 has been classified as Green List (High Evidence).","entity_name":"CD70","entity_type":"gene"},{"created":"2023-03-06T17:49:24.976315+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1924","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD70 was added\ngene: CD70 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: CD70 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD70 were set to Lymphoproliferative syndrome 3, MIM# 618261\nReview for gene: CD70 was set to GREEN\nAdded comment: Severe lymphoproliferation following EBV infection.\r\n\r\nTreatment: bone marrow transplant.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels, T and B Lymphocyte and Natural Killer Cell Profile \nSources: Expert Review","entity_name":"CD70","entity_type":"gene"},{"created":"2023-03-06T17:44:35.195197+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD55 as ready","entity_name":"CD55","entity_type":"gene"},{"created":"2023-03-06T17:44:35.169885+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd55 has been classified as Green List (High Evidence).","entity_name":"CD55","entity_type":"gene"},{"created":"2023-03-06T17:39:59.900872+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD55 as Green List (high evidence)","entity_name":"CD55","entity_type":"gene"},{"created":"2023-03-06T17:39:59.883096+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1923","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd55 has been classified as Green List (High Evidence).","entity_name":"CD55","entity_type":"gene"},{"created":"2023-03-06T17:39:50.719143+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1922","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD55.\nTag immunological tag was added to gene: CD55.","entity_name":"CD55","entity_type":"gene"},{"created":"2023-03-06T17:39:38.935973+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1922","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD55 was added\ngene: CD55 was added to gNBS. Sources: Expert Review\nMode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD55 were set to 33398182\nPhenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, MIM# 226300\nReview for gene: CD55 was set to GREEN\nAdded comment: Severe congenital disorder, high mortality.\r\n\r\nTreatment: Eculizumab\r\n\r\nNon-genetic confirmatory testing: albumin level, immunoglobulin level \nSources: Expert Review","entity_name":"CD55","entity_type":"gene"},{"created":"2023-03-06T15:40:39.987266+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD40 as ready","entity_name":"CD40","entity_type":"gene"},{"created":"2023-03-06T15:40:39.977590+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd40 has been classified as Green List (High Evidence).","entity_name":"CD40","entity_type":"gene"},{"created":"2023-03-06T15:39:14.543412+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD40 as ready","entity_name":"CD40","entity_type":"gene"},{"created":"2023-03-06T15:39:14.533973+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd40 has been classified as Green List (High Evidence).","entity_name":"CD40","entity_type":"gene"},{"created":"2023-03-06T15:38:43.584694+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD40 as Green List (high evidence)","entity_name":"CD40","entity_type":"gene"},{"created":"2023-03-06T15:38:43.572890+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1921","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd40 has been classified as Green List (High Evidence).","entity_name":"CD40","entity_type":"gene"},{"created":"2023-03-06T15:38:31.050899+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1920","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD40 was added\ngene: CD40 was added to gNBS. Sources: Expert list\nMode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD40 were set to 29884852\nPhenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, MIM#\t606843\nReview for gene: CD40 was set to GREEN\nAdded comment: Severity can be variable but generally congenital onset, and predisposition to severe infections. Note CD40L already included.\r\n\r\nTreatment: bone marrow transplantation.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels, flow cytometric analysis \nSources: Expert list","entity_name":"CD40","entity_type":"gene"},{"created":"2023-03-06T13:02:03.311759+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Shekeeb Mohammad","item_type":"entity","text":"changed review comment from: Sources: Literature; to: Sources: Literature: PMID: 36847845","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-06T13:01:01.460743+11:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.106","user_name":"Shekeeb Mohammad","item_type":"entity","text":"gene: SHQ1 was added\ngene: SHQ1 was added to Paroxysmal Dyskinesia. Sources: Literature\nMode of inheritance for gene: SHQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SHQ1 were set to PAROXYSMAL DYSTONIA; INTELLECTUAL DISABILITY; HYPOTONIA; CHOREOATHETOSIS; EPILEPSY\nReview for gene: SHQ1 was set to GREEN\ngene: SHQ1 was marked as current diagnostic\nAdded comment: Sources: Literature","entity_name":"SHQ1","entity_type":"gene"},{"created":"2023-03-06T10:37:24.107956+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.27","user_name":"Pasquale Barbaro","item_type":"entity","text":"gene: SRP19 was added\ngene: SRP19 was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP19 were set to PMID: 36223592\nPhenotypes for gene: SRP19 were set to neutropenia; myeloid maturation arrest; growth deficiency\nPenetrance for gene: SRP19 were set to unknown\nReview for gene: SRP19 was set to RED\nAdded comment: One kindred reported \nSources: Literature","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-06T10:36:23.575533+11:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.27","user_name":"Pasquale Barbaro","item_type":"entity","text":"gene: SRPRA was added\ngene: SRPRA was added to Bone Marrow Failure. Sources: Literature\nMode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRPRA were set to PMID: 36223592\nPhenotypes for gene: SRPRA were set to neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency\nPenetrance for gene: SRPRA were set to unknown\nReview for gene: SRPRA was set to RED\nAdded comment: One patient reported with functional data \nSources: Literature","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-06T10:33:00.635930+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.10","user_name":"Pasquale Barbaro","item_type":"entity","text":"gene: SRPRA was added\ngene: SRPRA was added to Phagocyte Defects. Sources: Literature\nMode of inheritance for gene: SRPRA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRPRA were set to PMID: 36223592\nPhenotypes for gene: SRPRA were set to neutropenia; myeloid maturation arrest; exocrine pancreatic insufficiency; growth deficiency\nPenetrance for gene: SRPRA were set to unknown\nReview for gene: SRPRA was set to RED\nAdded comment: One denovo variant identified in one patient \nSources: Literature","entity_name":"SRPRA","entity_type":"gene"},{"created":"2023-03-06T10:31:01.908134+11:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"1.10","user_name":"Pasquale Barbaro","item_type":"entity","text":"gene: SRP19 was added\ngene: SRP19 was added to Phagocyte Defects. Sources: Literature\nMode of inheritance for gene: SRP19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRP19 were set to PMID: 36223592\nPhenotypes for gene: SRP19 were set to neutropenia; myeloid maturation arrest; growth deficiency\nPenetrance for gene: SRP19 were set to unknown\nReview for gene: SRP19 was set to RED\nAdded comment: Reported in 5 patients from one kindred \nSources: Literature","entity_name":"SRP19","entity_type":"gene"},{"created":"2023-03-05T17:43:28.854026+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD3G as ready","entity_name":"CD3G","entity_type":"gene"},{"created":"2023-03-05T17:43:28.847000+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd3g has been classified as Green List (High Evidence).","entity_name":"CD3G","entity_type":"gene"},{"created":"2023-03-05T17:43:16.625029+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD3G as Green List (high evidence)","entity_name":"CD3G","entity_type":"gene"},{"created":"2023-03-05T17:43:16.617459+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1919","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd3g has been classified as Green List (High Evidence).","entity_name":"CD3G","entity_type":"gene"},{"created":"2023-03-05T17:43:02.099322+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1918","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CD3G: Changed rating: GREEN","entity_name":"CD3G","entity_type":"gene"},{"created":"2023-03-05T17:42:52.669605+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1918","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD3G.\nTag immunological tag was added to gene: CD3G.","entity_name":"CD3G","entity_type":"gene"},{"created":"2023-03-05T17:42:39.047207+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1918","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD3G was added\ngene: CD3G was added to gNBS. Sources: Expert list\nMode of inheritance for gene: CD3G was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD3G were set to 31921117\nPhenotypes for gene: CD3G were set to Immunodeficiency 17; CD3 gamma deficient MIM# 615607\nAdded comment: 10 affected individuals from 5 unrelated families; homozygous and compound heterozygous variants (splicing, missense and small deletion variants) identified resulting in premature stop codons and truncated protein; multiple mouse models.\r\n\r\nAll individuals displayed immune deficiency and autoimmunity of variable severity. Some individuals presented at birth with failure to thrive due to lethal SCID features. The most common immunologic profile includes partial T lymphocytopenia and low CD3, with normal B cells, NK cells, and immunoglobulins.\r\n\r\nCongenital onset.\r\n\r\nTreatment: replacement immunoglobulin\r\n\r\nNon-genetic confirmatory testing:   immunoglobulin levels \nSources: Expert list","entity_name":"CD3G","entity_type":"gene"},{"created":"2023-03-05T17:29:28.057470+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1917","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD27 as ready","entity_name":"CD27","entity_type":"gene"},{"created":"2023-03-05T17:29:28.048141+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1917","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd27 has been classified as Green List (High Evidence).","entity_name":"CD27","entity_type":"gene"},{"created":"2023-03-05T17:29:19.146415+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1917","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD27 as Green List (high evidence)","entity_name":"CD27","entity_type":"gene"},{"created":"2023-03-05T17:29:19.136342+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1917","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd27 has been classified as Green List (High Evidence).","entity_name":"CD27","entity_type":"gene"},{"created":"2023-03-05T17:29:09.962537+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1916","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD27.\nTag immunological tag was added to gene: CD27.","entity_name":"CD27","entity_type":"gene"},{"created":"2023-03-05T17:28:58.771091+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1916","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CD27 was added\ngene: CD27 was added to gNBS. Sources: Expert list\nMode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD27 were set to 22197273; 22801960; 22365582; 25843314; 11062504\nPhenotypes for gene: CD27 were set to CD27-deficiency MIM# 615122\nReview for gene: CD27 was set to GREEN\nAdded comment: 17 affected individuals from 9 unrelated families; homozygous (missense) and compound heterozygous (missense/ nonsense) variants identified in CD27; one mouse model. Affected individuals present with varied phenotypes (even within the same families); most commonly with lymphadenopathy, fever, hepatosplenomegaly, EBV-related infections, and immunodeficiency associated with hypogammaglobulinaemia. However, some CD27-deficient individuals are asymptomatic or display borderline-low hypogammaglobulinaemia.\r\n\r\nTreatment: replacement immunoglobulin treatment, rituximab, Bone marrow transplant.\r\n\r\nNon-genetic confirmatory testing: immunoglobulin levels \nSources: Expert list","entity_name":"CD27","entity_type":"gene"},{"created":"2023-03-05T17:24:48.791601+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1915","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CD247 as ready","entity_name":"CD247","entity_type":"gene"},{"created":"2023-03-05T17:24:48.775186+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1915","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd247 has been classified as Green List (High Evidence).","entity_name":"CD247","entity_type":"gene"},{"created":"2023-03-05T17:24:42.673835+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1915","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CD247 as Green List (high evidence)","entity_name":"CD247","entity_type":"gene"},{"created":"2023-03-05T17:24:42.664257+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1915","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cd247 has been classified as Green List (High Evidence).","entity_name":"CD247","entity_type":"gene"},{"created":"2023-03-05T17:24:27.499772+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1914","user_name":"Zornitza Stark","item_type":"entity","text":"Tag treatable tag was added to gene: CD247.\nTag immunological tag was added to gene: CD247.","entity_name":"CD247","entity_type":"gene"}]}