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{
"count": 220751,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1261",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1259",
"results": [
{
"created": "2021-07-25T17:58:02.185364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybb has been classified as Green List (High Evidence).",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:57:52.920156+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease, X-linked, MIM# 306400",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:57:32.399018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYBB were set to ",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:57:13.059805+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:56:53.793653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2556453, 1710153, 9585602; Phenotypes: Chronic granulomatous disease, X-linked, MIM# 306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:56:00.856797+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYBB as ready",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:56:00.846552+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybb has been classified as Green List (High Evidence).",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:55:58.571384+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.84",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBB were changed from to Chronic granulomatous disease, X-linked, MIM# 306400",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:55:33.771201+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYBB were set to ",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:55:00.914435+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYBB was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:42:12.498644+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CTSC as ready",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:42:12.489473+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ctsc has been classified as Green List (High Evidence).",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:42:10.207630+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTSC were changed from to Papillon-Lefevre syndrome, MIM# 245000",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:41:42.467878+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CTSC were set to ",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:41:08.736947+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CTSC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:40:41.110462+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CTSC: Rating: GREEN; Mode of pathogenicity: None; Publications: 25244098; Phenotypes: Papillon-Lefevre syndrome, MIM# 245000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:35:41.807723+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive, MIM#\t617014 to Neutropaenia, severe congenital, 7, autosomal recessive, MIM#\t617014",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:35:26.220026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF3R as ready",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:35:26.209286+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf3r has been classified as Green List (High Evidence).",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:35:04.476160+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF3R were changed from Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014 to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:34:41.031719+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF3R were set to 24753537; 26324699",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:34:33.879816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF3R were changed from to Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:34:12.018415+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSF3R: Changed publications: 24753537, 26324699, 33511998, 32966608; Changed phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:34:09.744201+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF3R were set to ",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:33:54.130232+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF3R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:33:36.840738+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: More than 5 unrelated families reported.; to: More than 5 unrelated families reported. Some reports of progression to myelodysplasia.",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:33:19.237855+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753537, 26324699, 33511998, 32966608; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:33:15.698712+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Three unrelated families reported. \nSources: Expert list; to: At least 5 unrelated families reported. Some reports of progression to myelodysplasia.\r\nSources: Expert list",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:31:31.230680+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSF3R as ready",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:31:31.220421+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csf3r has been classified as Green List (High Evidence).",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:31:28.715534+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSF3R were changed from to Neutropaenia, severe congenital, 7, autosomal recessive, MIM# 617014",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:31:09.400186+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CSF3R were set to ",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:30:41.250994+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CSF3R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:30:17.104740+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CSF3R: Rating: GREEN; Mode of pathogenicity: None; Publications: 24753537, 26324699, 33511998, 32966608; Phenotypes: Neutropenia, severe congenital, 7, autosomal recessive, MIM# 617014; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSF3R",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:26:51.867746+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUAK2 were changed from Anencephaly to Anencephaly 2, MIM# 619452",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:26:25.569262+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:26:17.885503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUAK2: Changed phenotypes: Anencephaly 2, MIM# 619452",
"entity_name": "NUAK2",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:25:46.740970+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from Viral infections of the brainstem to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:25:17.805040+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DBR1: Changed phenotypes: {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441, Viral infections of the brainstem",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:24:59.454412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DBR1 were changed from Viral infections of the brainstem to {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441; Viral infections of the brainstem",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:24:38.710442+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DBR1: Changed phenotypes: {Encephalitis, acute, infection (viral)-induced, susceptibility to, 11}, MIM# 619441, Viral infections of the brainstem",
"entity_name": "DBR1",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:23:46.541746+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4001",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPYSL5 were changed from Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities to Ritscher-Schinzel syndrome 4, MIM# 619435; Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:23:16.200044+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4000",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPYSL5: Changed phenotypes: Ritscher-Schinzel syndrome 4, MIM# 619435, Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:22:54.743109+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPYSL5 were changed from Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities to Ritscher-Schinzel syndrome 4, MIM# 619435; Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:22:22.136026+10:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DPYSL5: Changed phenotypes: Ritscher-Schinzel syndrome 4, MIM# 619435, Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:22:03.997700+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DPYSL5 were changed from Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities to Ritscher-Schinzel syndrome 4, MIM# 619435; Neurodevelopmental disorder with corpus callosum agenesis and cerebellar abnormalities",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-25T17:21:41.361972+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DPYSL5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ritscher-Schinzel syndrome 4, MIM# 619435; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DPYSL5",
"entity_type": "gene"
},
{
"created": "2021-07-25T14:18:13.562101+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRP7A were changed from Microcephaly to Microcephaly 28, primary, autosomal recessive MIM#619453",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2021-07-25T14:17:41.815751+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RRP7A: Changed phenotypes: Microcephaly 28, primary, autosomal recessive MIM#619453",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2021-07-25T14:17:25.212379+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRP7A were changed from Microcephaly to Microcephaly 28, primary, autosomal recessive MIM#619453",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2021-07-25T14:16:53.180675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RRP7A: Changed phenotypes: Microcephaly 28, primary, autosomal recessive MIM#619453",
"entity_name": "RRP7A",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:35:26.027748+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYBA as ready",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:35:26.017371+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cyba has been classified as Green List (High Evidence).",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:35:22.014100+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBA were changed from to Chronic granulomatous disease 4, autosomal recessive, MIM# 233690; MONDO:0009308",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:35:03.725099+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYBA were set to ",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:34:35.406304+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYBA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:33:44.192691+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEBPE as ready",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:33:44.182020+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cebpe has been classified as Green List (High Evidence).",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:33:37.326569+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEBPE as ready",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:33:37.310906+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cebpe has been classified as Green List (High Evidence).",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:33:29.463090+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:33:13.979698+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEBPE were changed from Specific granule deficiency, MIM# 245480 to Specific granule deficiency, MIM# 245480",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:33:12.053550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEBPE were changed from to Specific granule deficiency, MIM# 245480",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:32:58.714076+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEBPE were changed from to Specific granule deficiency, MIM# 245480",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:32:46.502468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEBPE were set to ",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:32:14.238026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEBPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:31:57.523555+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEBPE were set to ",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:31:50.333779+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 10359588, 11313242, 31256937, 29651288; Phenotypes: Specific granule deficiency, MIM# 245480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:31:09.464534+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEBPE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T18:30:37.173536+10:00",
"panel_name": "Phagocyte Defects",
"panel_id": 233,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEBPE: Rating: GREEN; Mode of pathogenicity: None; Publications: 10359588, 11313242, 31256937, 29651288; Phenotypes: Specific granule deficiency, MIM# 245480; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEBPE",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:05:41.192781+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"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": "2021-07-24T17:04:16.155878+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PD as ready",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:04:16.137640+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pd has been classified as Green List (High Evidence).",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:04:11.585139+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: G6PD were set to ",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:03:53.327315+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: G6PD: Rating: GREEN; Mode of pathogenicity: None; Publications: 34175765, 27458052; Phenotypes: Haemolytic anemia, G6PD deficient (favism), MIM# 300908; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "G6PD",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:01:50.915296+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C17orf62 as ready",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:01:50.896835+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: HGNC approved name: CYBC1",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:01:50.852266+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"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": "2021-07-24T17:01:33.442360+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: C17orf62.",
"entity_name": "C17orf62",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:00:44.441021+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCF2 as ready",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:00:44.431099+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"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": "2021-07-24T17:00:36.316441+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NCF2 were set to ",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-24T17:00:19.955076+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7795241, 10498624; Phenotypes: Chronic granulomatous disease 2, autosomal recessive, MIM# 233710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF2",
"entity_type": "gene"
},
{
"created": "2021-07-24T16:59:06.040567+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CYBB as ready",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-24T16:59:06.031097+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cybb has been classified as Green List (High Evidence).",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-24T16:59:01.885240+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CYBB were set to ",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-24T16:58:49.118154+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CYBB: Rating: GREEN; Mode of pathogenicity: None; Publications: 2556453, 1710153, 9585602; Phenotypes: Chronic granulomatous disease, X-linked, MIM# 306400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2021-07-24T10:38:20.225285+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: GK: Rating: RED; Mode of pathogenicity: None; Publications: 8651297, 9719371; Phenotypes: Glycerol kinase deficiency, MIM# 307030; Mode of inheritance: None",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2021-07-24T10:26:06.670541+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: SAMD9: Rating: AMBER; Mode of pathogenicity: None; Publications: 16960814, 18094730; Phenotypes: Tumoral calcinosis, familial, normophosphatemic, MIM# 610455; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SAMD9",
"entity_type": "gene"
},
{
"created": "2021-07-24T10:15:08.386003+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.102",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: FTCD: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 5956503, 5897668, 4413489, 29178637; Phenotypes: Glutamate formiminotransferase deficiency MIM#229100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FTCD",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:38:45.452207+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCF1 as ready",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:38:45.433847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf1 has been classified as Green List (High Evidence).",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:38:29.775161+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCF1 were changed from to Chronic granulomatous disease 1, autosomal recessive, MIM# 233700",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:38:00.982979+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NCF1 were set to ",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:37:42.544334+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NCF1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:37:25.213077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2011585, 11133775, 10706888, 16972229, 16972229; Phenotypes: Chronic granulomatous disease 1, autosomal recessive, MIM# 233700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:36:34.091091+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCF1 as ready",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:36:34.076193+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncf1 has been classified as Green List (High Evidence).",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:36:31.727703+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NCF1 were changed from Chronic granulomatous disease due to deficiency of NCF-1 MIM#233700 to Chronic granulomatous disease 1, autosomal recessive, MIM# 233700",
"entity_name": "NCF1",
"entity_type": "gene"
},
{
"created": "2021-07-23T13:36:19.035882+10:00",
"panel_name": "Chronic granulomatous disease",
"panel_id": 3159,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NCF1 were set to ",
"entity_name": "NCF1",
"entity_type": "gene"
}
]
}