{"count":220771,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1259","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1257","results":[{"created":"2021-07-28T13:55:18.973769+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SBDS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-28T13:54:52.393103+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SBDS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Shwachman-Diamond syndrome, MIM# 260400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SBDS","entity_type":"gene"},{"created":"2021-07-28T13:51:16.302335+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8547","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMTOR2 as ready","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:51:16.289539+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8547","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamtor2 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:51:07.773346+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8547","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMTOR2 were changed from  to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:50:41.185253+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8546","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMTOR2 were set to ","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:50:20.035547+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8545","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMTOR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:50:01.788290+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8544","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMTOR2 as Amber List (moderate evidence)","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:50:01.777718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8544","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamtor2 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:49:41.307710+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8543","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17195838, 24092934; Phenotypes: Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:49:08.674902+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMTOR2 as ready","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:49:08.663151+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamtor2 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:49:06.204470+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMTOR2 were changed from  to Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:48:42.305053+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMTOR2 were set to ","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:48:04.941802+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMTOR2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:45:47.796750+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LAMTOR2 as Amber List (moderate evidence)","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:45:47.784905+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamtor2 has been classified as Amber List (Moderate Evidence).","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T13:43:06.642259+10:00","panel_name":"Phagocyte Defects","panel_id":233,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMTOR2: Rating: AMBER; Mode of pathogenicity: None; Publications: 17195838, 24092934; Phenotypes: Immunodeficiency due to defect in MAPBP-interacting protein, MIM# 610798; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMTOR2","entity_type":"gene"},{"created":"2021-07-28T11:19:32.013881+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8543","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKZF3 as ready","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:19:32.004848+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8543","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf3 has been classified as Amber List (Moderate Evidence).","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:17:34.764611+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8543","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKZF3 as Amber List (moderate evidence)","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:17:34.753925+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8543","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf3 has been classified as Amber List (Moderate Evidence).","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:17:17.988177+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IKZF3 as ready","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:17:17.977299+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf3 has been classified as Amber List (Moderate Evidence).","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:17:17.967329+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8542","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKZF3 was added\ngene: IKZF3 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF3 were set to 34155405\nPhenotypes for gene: IKZF3 were set to Immunodeficiency 84, MIM# 619437\nReview for gene: IKZF3 was set to AMBER\nAdded comment: Single family reported where heterozygous missense variant in this gene segregated with immunodeficiency in a mother and two children. Findings included low levels of B cells and impaired early B-cell development, variable T-cell abnormalities, hypogammaglobulinaemia, increased susceptibility to infection with Epstein-Barr virus (EBV). One individual developed lymphoma in adulthood. Mouse model recapitulated phenotype. \nSources: Expert Review","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:17:06.400441+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKZF3 as Amber List (moderate evidence)","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:17:06.390758+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.251","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf3 has been classified as Amber List (Moderate Evidence).","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:16:05.608440+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: IKZF3 as Amber List (moderate evidence)","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:16:05.598163+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ikzf3 has been classified as Amber List (Moderate Evidence).","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T11:10:23.984995+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IKZF3 was added\ngene: IKZF3 was added to Combined Immunodeficiency. Sources: Literature\nMode of inheritance for gene: IKZF3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF3 were set to 34155405\nPhenotypes for gene: IKZF3 were set to Immunodeficiency 84, MIM#\t619437\nReview for gene: IKZF3 was set to AMBER\nAdded comment: Single family reported where heterozygous missense variant in this gene segregated with immunodeficiency in a mother and two children. Findings included low levels of B cells and impaired early B-cell development, variable T-cell abnormalities, hypogammaglobulinaemia, increased susceptibility to infection with Epstein-Barr virus (EBV). One individual developed lymphoma in adulthood.\r\n\r\nMouse model recapitulated phenotype. \nSources: Literature","entity_name":"IKZF3","entity_type":"gene"},{"created":"2021-07-28T09:16:02.313455+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4006","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B4 as ready","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:16:02.302015+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4006","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b4 has been classified as Green List (High Evidence).","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:15:57.887955+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4006","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B4 were changed from  to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:15:23.727072+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4005","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD17B4 were set to ","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:14:51.448773+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4004","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:13:28.260255+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4003","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27790638; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:12:28.311052+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B4 as ready","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:12:28.299099+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b4 has been classified as Green List (High Evidence).","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:12:17.889609+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B4 were changed from  to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:11:46.283964+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD17B4 were set to ","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:11:21.812431+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:10:49.177185+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27790638; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:09:45.526788+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8541","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HSD17B4 as ready","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:09:45.516265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8541","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hsd17b4 has been classified as Green List (High Evidence).","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:09:38.694436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8541","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HSD17B4 were changed from  to D-bifunctional protein deficiency, AR (MIM#261515); Perrault syndrome 1, AR (MIM#233400)","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:09:18.997732+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8540","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HSD17B4 were set to ","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:09:00.623927+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8539","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HSD17B4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-28T09:08:32.320886+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8538","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-27T17:24:10.702232+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8538","user_name":"Michelle Torres","item_type":"entity","text":"reviewed gene: HSD17B4: Rating: GREEN; Mode of pathogenicity: None; Publications: 27790638; Phenotypes: D-bifunctional protein deficiency, AR (MIM#261515), Perrault syndrome 1, AR (MIM#233400); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HSD17B4","entity_type":"gene"},{"created":"2021-07-27T16:56:42.376578+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8538","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCK as ready","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:56:42.365927+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8538","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lck has been classified as Amber List (Moderate Evidence).","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:56:32.633687+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ICOS as ready","entity_name":"ICOS","entity_type":"gene"},{"created":"2021-07-27T16:56:32.622363+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: icos has been classified as Green List (High Evidence).","entity_name":"ICOS","entity_type":"gene"},{"created":"2021-07-27T16:56:29.649208+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.248","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ICOS were changed from  to Immunodeficiency, common variable, 1 MIM# 607594; recurrent bacterial respiratory/gastrointestinal infections; autoimmunity; gastroenteritis; low IgG/IgA; normal-low IgM; hypogammaglobulinaemia; low-normal B-cells; normal T-cells; Bronchitis; Lymphadenopathy; Hepatomegaly; Diarrhoea","entity_name":"ICOS","entity_type":"gene"},{"created":"2021-07-27T16:56:05.797147+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.247","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ICOS were set to ","entity_name":"ICOS","entity_type":"gene"},{"created":"2021-07-27T16:55:03.350170+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.246","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ICOS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ICOS","entity_type":"gene"},{"created":"2021-07-27T16:54:19.000595+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: ICOS.","entity_name":"ICOS","entity_type":"gene"},{"created":"2021-07-27T16:53:12.464920+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8538","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCK were changed from  to Immunodeficiency 22 MIM# 615758; Recurrent infections; Immune dysregulation; autoimmunity; Low CD4+; low CD8+; restricted T cell repertoire; poor TCR signaling; Normal IgG/IgA; high IgM; failure to thrive; diarrhoea; lymphopaenia; hypogammaglobulinaemia; anaemia; thrombocytopaenia; CD4+ T-cell lymphopaenia","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:52:24.809389+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8537","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LCK were set to ","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:52:03.175436+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8536","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:52.547594+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8535","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCK as Amber List (moderate evidence)","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:52.539386+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8535","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lck has been classified as Amber List (Moderate Evidence).","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:41.856115+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8534","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCK as Amber List (moderate evidence)","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:41.847105+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8534","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lck has been classified as Amber List (Moderate Evidence).","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:40.116791+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCK as ready","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:40.106181+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lck has been classified as Amber List (Moderate Evidence).","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:22.143383+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8533","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LCK: Rating: AMBER; Mode of pathogenicity: None; Publications: 22985903, 1579166, 11021796; Phenotypes: Immunodeficiency 22 MIM# 615758, Recurrent infections, Immune dysregulation, autoimmunity, Low CD4+, low CD8+, restricted T cell repertoire, poor TCR signaling, Normal IgG/IgA, high IgM, failure to thrive, diarrhoea, lymphopenia, hypogammaglobulinemia, anaemia, thrombocytopaenia, CD4+ T-cell lymphopenia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:51:16.522762+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.245","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCK were changed from  to Immunodeficiency 22 MIM# 615758; Recurrent infections; Immune dysregulation; autoimmunity; Low CD4+; low CD8+; restricted T cell repertoire; poor TCR signaling; Normal IgG/IgA; high IgM; failure to thrive; diarrhoea; lymphopenia; hypogammaglobulinemia; anaemia; thrombocytopaenia; CD4+ T-cell lymphopenia","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:50:52.878696+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.244","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LCK were set to ","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:50:08.518242+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.243","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LCK was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:49:59.627865+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8533","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK8 as ready","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:49:59.617623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8533","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock8 has been classified as Green List (High Evidence).","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:49:40.442839+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCK as Amber List (moderate evidence)","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:49:40.432311+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lck has been classified as Amber List (Moderate Evidence).","entity_name":"LCK","entity_type":"gene"},{"created":"2021-07-27T16:48:07.066186+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8533","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK8 were changed from  to Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700; T cell Lymphopaenia; decraese T/B/NK cells; Eosinophilia; low IgM; elevated IgE; recurrent cutaneous/ viral/ bacterial/ fungal/ infections; severe atopy/allergic disease; autoimmune haemolytic anaemia; eczema; cancer diathesis","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:47:26.802379+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8532","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK8 were set to ","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:47:00.396081+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK8 as ready","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:47:00.382659+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock8 has been classified as Green List (High Evidence).","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:46:57.795183+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK8 were changed from  to Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700; T cell Lymphopaenia; decraese T/B/NK cells; Eosinophilia; low IgM; elevated IgE; recurrent cutaneous/ viral/ bacterial/ fungal/ infections; severe atopy/allergic disease; autoimmune haemolytic anaemia; eczema; cancer diathesis","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:46:57.139029+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8531","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:46:34.585254+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK8 were set to ","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:46:18.908219+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8530","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK2 as ready","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:46:18.895962+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8530","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock2 has been classified as Green List (High Evidence).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:46:08.479564+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOCK8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:46:03.430101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8530","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK2 were changed from  to Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:45:30.656766+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8529","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK2 were set to ","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:45:14.068816+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8528","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:44:54.848785+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8527","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DOCK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26083206, 29204803, 33928462, 30826364, 30838481, 11518968; Phenotypes: Immunodeficiency 40 MIM# 616433, T/B-cell lymphopaenia, early-onset invasive herpes/viral/bacterial Infections, function defects in T/B/NK cells, immunodeficiency, defective IFN-mediated immunity, elevated IgM, normal IgG/IgA levels; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:44:30.218862+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8527","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: DOCK8: Rating: GREEN; Mode of pathogenicity: None; Publications: 19776401, 20622910, 21931011, 26659092, 19898472, 25422492; Phenotypes: Hyper-IgE recurrent infection syndrome, autosomal recessive MIM# 243700, T cell Lymphopaenia, decraese T/B/NK cells, Eosinophilia, low IgM, elevated IgE, recurrent cutaneous/ viral/ bacterial/ fungal/ infections, severe atopy/allergic disease, autoimmune haemolytic anaemia, eczema, cancer diathesisc; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK8","entity_type":"gene"},{"created":"2021-07-27T16:44:03.388135+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DOCK2 as ready","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:44:03.375671+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dock2 has been classified as Green List (High Evidence).","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:44:01.060275+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DOCK2 were changed from  to Immunodeficiency 40 MIM# 616433; T/B-cell lymphopaenia; early-onset invasive herpes/viral/bacterial Infections; function defects in T/B/NK cells; immunodeficiency; defective IFN-mediated immunity; elevated IgM; normal IgG/IgA levels","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:43:39.290048+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DOCK2 were set to ","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:43:07.464342+10:00","panel_name":"Combined Immunodeficiency","panel_id":223,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DOCK2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DOCK2","entity_type":"gene"},{"created":"2021-07-27T16:40:40.066205+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8527","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNMT3B as ready","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-07-27T16:40:40.055469+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8527","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnmt3b has been classified as Green List (High Evidence).","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-07-27T16:40:30.238737+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8527","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNMT3B were changed from  to Immunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860; facial dysmorphic features; flat nasal bridge; developmental delay; macroglossia; bacterial/opportunistic infections (recurrent); malabsorption; cytopaenia; malignancies; multiradial configurations of chromosomes 1, 9, 16; Hypogammaglobulinaemia; agammaglobulinaemia; variable antibody deficiency; decreased immunoglobulin production; low T/B/NK cells","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-07-27T16:40:23.573758+10:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.68","user_name":"Danielle Ariti","item_type":"entity","text":"reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20587527, 10555141, 17359920, 9718351, 10647011, 11102980, 12239717; Phenotypes: mmunodeficiency-centromeric instability-facial anomalies syndrome 1 MIM# 242860, facial dysmorphic features, flat nasal bridge, developmental delay, macroglossia, bacterial/opportunistic infections (recurrent), malabsorption, cytopaenia, malignancies, multiradial configurations of chromosomes 1, 9, 16, Hypogammaglobulinaemia, agammaglobulinaemia, variable antibody deficiency, decreased immunoglobulin production, low T/B/NK cells; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-07-27T16:40:09.689395+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8526","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNMT3B were set to ","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2021-07-27T16:39:50.378323+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.8525","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNMT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNMT3B","entity_type":"gene"}]}