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{
"count": 220771,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1258",
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"results": [
{
"created": "2021-07-29T10:36:18.452877+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZNF687 were set to ",
"entity_name": "ZNF687",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:35:46.745746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ZNF687 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF687",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:35:26.573970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: ZNF687.",
"entity_name": "ZNF687",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:35:13.404473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF687: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paget disease of bone 6, MIM#616833; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZNF687",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:24:42.522899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRHPR as ready",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:24:42.512412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grhpr has been classified as Green List (High Evidence).",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:24:34.752990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRHPR were changed from to Hyperoxaluria, primary, type II, MIM# 260000; MONDO:0009824",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:24:15.020438+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRHPR were set to ",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:23:52.692050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRHPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:23:35.476349+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRHPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 10484776, 11030416, 24116921; Phenotypes: Hyperoxaluria, primary, type II, MIM# 260000, MONDO:0009824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:14:55.582188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGXT as ready",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:14:55.566162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agxt has been classified as Green List (High Evidence).",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:14:47.244260+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8556",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGXT were changed from to Hyperoxaluria, primary, type 1, MIM# 259900; MONDO:0009823",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:14:27.508764+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8555",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGXT were set to ",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:14:01.078866+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8554",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGXT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:13:39.457184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGXT: Rating: GREEN; Mode of pathogenicity: None; Publications: 2039493, 19479957; Phenotypes: Hyperoxaluria, primary, type 1, MIM# 259900, MONDO:0009823; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:02:04.758181+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOGA1 as ready",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:02:04.747281+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoga1 has been classified as Green List (High Evidence).",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:01:53.692698+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8553",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOGA1 were changed from to Hyperoxaluria, primary, type III MIM#613616",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:01:33.232812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8552",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOGA1 were set to ",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2021-07-29T10:01:11.660718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8551",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOGA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2021-07-29T08:37:42.068650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8550",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ZNF687: Rating: AMBER; Mode of pathogenicity: None; Publications: 26849110, 29493781, 32106343; Phenotypes: Paget disease of bone 6, MIM#616833; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ZNF687",
"entity_type": "gene"
},
{
"created": "2021-07-28T20:53:28.856458+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8550",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: HOGA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20797690, 21896830, 22391140; Phenotypes: Hyperoxaluria, primary, type III MIM#613616; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2021-07-28T19:23:00.123528+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSC2 as ready",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2021-07-28T19:23:00.112537+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsc2 has been classified as Green List (High Evidence).",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2021-07-28T19:22:57.267408+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2021-07-28T19:22:33.165208+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DSC2 were set to ",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2021-07-28T19:22:09.647057+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2021-07-28T19:21:45.092921+10:00",
"panel_name": "Desmosomal disorders",
"panel_id": 97,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18957847, 23863954; Phenotypes: Arrhythmogenic right ventricular dysplasia 11 with mild palmoplantar keratoderma and woolly hair, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:40:12.469271+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-28T17:37:41.143548+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC61A1 as ready",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:37:41.124600+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec61a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEC61A1",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:37:05.704681+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MKL1 as ready",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:37:05.691276+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mkl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MKL1",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:36:05.140772+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CXCR4 as ready",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:36:05.122400+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cxcr4 has been classified as Green List (High Evidence).",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:35:43.858263+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CXCR4 were changed from to WHIM syndrome 1, MIM# 193670",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:35:15.068163+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CXCR4 were set to ",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:34:47.408559+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CXCR4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-07-28T17:34:19.022471+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CXCR4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692554, 15536153, 23009155; Phenotypes: WHIM syndrome 1, MIM# 193670; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CXCR4",
"entity_type": "gene"
},
{
"created": "2021-07-28T15:09:33.966513+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WAS as ready",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-07-28T15:09:33.952799+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: was has been classified as Green List (High Evidence).",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-07-28T15:04:46.557302+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WAS were changed from to Neutropaenia, severe congenital, X-linked, MIM# 300299",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-07-28T15:00:57.620625+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WAS were set to ",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-07-28T15:00:18.023233+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WAS was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:59:50.263601+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 11242115, 16804117, 19006568; Phenotypes: Neutropaenia, severe congenital, X-linked, MIM# 300299; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:57:20.714530+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Neutropaenia is not a prominent feature. Mostly experimental data linking to macrophage defects.; to: Neutropaenia is not a prominent feature. Mostly experimental data linking to macrophage defects. Gene is on multiple other, more appropriate immunology panels.",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:57:02.036546+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WIPF1 as ready",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:57:02.014558+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:56:58.991423+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WIPF1 were changed from to Wiskott-Aldrich syndrome 2, MIM# 614493",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:56:35.016853+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WIPF1 were set to ",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:56:14.141979+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WIPF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:55:39.212249+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WIPF1 as Amber List (moderate evidence)",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:55:39.198073+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wipf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:55:14.631336+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WIPF1: Rating: AMBER; Mode of pathogenicity: None; Publications: 17312144, 17890224; Phenotypes: Wiskott-Aldrich syndrome 2, MIM# 614493; Mode of inheritance: None",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:33:48.798017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS45 as ready",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:33:48.785508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps45 has been classified as Green List (High Evidence).",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:51.916831+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8550",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS45 were changed from to Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:31:22.925235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8549",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS45 were set to ",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:25:00.401391+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:23:40.926077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: 23738510, 23599270, 33623350, 32037586, 30294941; Phenotypes: Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:19:39.444749+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS45 as ready",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:19:39.428593+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps45 has been classified as Green List (High Evidence).",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:19:36.540959+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS45 were changed from to Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:19:17.353609+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VPS45 were set to ",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:17:56.619768+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS45 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:17:23.652598+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS45: Rating: GREEN; Mode of pathogenicity: None; Publications: 23738510, 23599270, 33623350, 32037586, 30294941; Phenotypes: Neutropaenia, severe congenital, 5, autosomal recessive, MIM# 615285; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:13:49.446783+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VPS13B as ready",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:13:49.435497+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vps13b has been classified as Green List (High Evidence).",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:13:46.343334+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS13B were changed from to Cohen syndrome, MIM# 216550",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:13:23.003545+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VPS13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:12:56.242732+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VPS13B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cohen syndrome, MIM# 216550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:11:01.777402+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:11:01.762657+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:06:08.135414+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from to Barth syndrome, MIM# 302060",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:05:49.408172+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:05:17.058160+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:04:15.430768+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:04:15.419279+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:04:12.576064+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC37A4 were changed from to Glycogen storage disease Ib, MIM# 232220",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:03:46.918476+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC37A4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:03:13.481077+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib, MIM# 232220; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:01:13.841573+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCF4 as ready",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:01:13.828584+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf4 has been classified as Green List (High Evidence).",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:01:11.178633+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCF4 were changed from to Granulomatous disease, chronic, autosomal recessive, cytochrome b-positive, type III MIM#613960",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:00:50.723113+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NCF4 were set to ",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2021-07-28T14:00:28.994431+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NCF4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF4",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:59:34.979672+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCF2 as ready",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:59:34.968400+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf2 has been classified as Green List (High Evidence).",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:59:30.905761+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCF2 were changed from to Chronic granulomatous disease 2, autosomal recessive, MIM# 233710",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:59:01.437546+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NCF2 were set to ",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:58:35.121795+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NCF2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:57:48.824831+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC35C1 as ready",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:57:48.812916+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35c1 has been classified as Green List (High Evidence).",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:57:44.310924+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35C1 were changed from to Congenital disorder of glycosylation, type IIc, MIM# 266265, MONDO:0009953",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:57:17.865657+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35C1 were set to ",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:56:51.075580+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC35C1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35C1",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:55:48.097632+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SBDS as ready",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:55:48.087516+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sbds has been classified as Green List (High Evidence).",
"entity_name": "SBDS",
"entity_type": "gene"
},
{
"created": "2021-07-28T13:55:44.085999+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SBDS were changed from to Shwachman-Diamond syndrome, MIM# 260400",
"entity_name": "SBDS",
"entity_type": "gene"
}
]
}