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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1480",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1478",
"results": [
{
"created": "2020-12-11T12:31:10.897343+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fezf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "FEZF1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:28:56.842336+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PROKR2 as ready",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:28:56.834742+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prokr2 has been classified as Green List (High Evidence).",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:28:52.810981+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.76",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PROKR2 were changed from to Hypogonadotropic hypogonadism 3 with or without anosmia, MIM# 244200",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:28:38.905337+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.75",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PROKR2 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:27:03.205677+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NUP107 as ready",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:27:03.196066+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nup107 has been classified as Green List (High Evidence).",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:26:42.745897+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.74",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: NUP107 were changed from to Ovarian dysgenesis 6 MIM#618078; primary amenorrhea; hypogonadotrophic hypogonadism",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:26:34.479659+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NUP107 were set to ",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:26:19.854376+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUP107 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:25:59.790989+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: NUP107: Rating: GREEN; Mode of pathogenicity: None; Publications: 32684853, 26485283, 29363275; Phenotypes: Ovarian dysgenesis 6 MIM#618078, primary amenorrhea, hypogonadotrophic hypogonadism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:05:46.087942+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: NR5A1 as ready",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:05:46.078997+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: nr5a1 has been classified as Green List (High Evidence).",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:05:41.497645+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: NR5A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:05:34.520081+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: NR5A1 were set to ",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:05:02.329489+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: NOBOX was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NOBOX",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:04:22.454175+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LARS2 as ready",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:04:22.443569+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lars2 has been classified as Green List (High Evidence).",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:04:16.132487+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LARS2 were set to ",
"entity_name": "LARS2",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:03:48.271861+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: KISS1 as ready",
"entity_name": "KISS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:03:48.264717+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kiss1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KISS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:03:43.473903+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: KISS1 were changed from to Hypogonadotropic hypogonadism 13 with or without anosmia, MIM# 614842",
"entity_name": "KISS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:03:35.298792+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.66",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: KISS1 were set to ",
"entity_name": "KISS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:03:25.675430+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.65",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: KISS1 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "KISS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:03:18.835769+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KISS1 as Amber List (moderate evidence)",
"entity_name": "KISS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T12:03:18.825298+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.64",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: kiss1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "KISS1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:59:09.580165+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HFM1 as ready",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:59:09.562718+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hfm1 has been classified as Green List (High Evidence).",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:59:06.494541+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.63",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: HFM1 were set to ",
"entity_name": "HFM1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:34:45.460822+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXL2 as ready",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:34:45.449370+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxl2 has been classified as Green List (High Evidence).",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:34:42.526337+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.62",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXL2 were set to ",
"entity_name": "FOXL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:34:10.547169+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGFR1 as ready",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:34:10.535139+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgfr1 has been classified as Green List (High Evidence).",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:34:07.321286+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.61",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR1 were changed from to Hypogonadotropic hypogonadism 2 with or without anosmia 147950",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:33:56.973758+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.60",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGFR1 were set to ",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:33:48.684995+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.59",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR1 was changed from to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:32:20.782377+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGF8 as ready",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:32:20.773313+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf8 has been classified as Green List (High Evidence).",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:31:09.912362+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CLPP as ready",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:31:09.898689+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: clpp has been classified as Green List (High Evidence).",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:31:06.524101+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.58",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: CLPP were set to ",
"entity_name": "CLPP",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:30:37.671226+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: AARS2 as ready",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:30:37.662840+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: aars2 has been classified as Green List (High Evidence).",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:30:31.727777+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.57",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: AARS2 were set to ",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:30:02.725986+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.56",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: AIRE were changed from to Autoimmune polyendocrinopathy syndrome , type I, with or without reversible metaphyseal dysplasia",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:29:50.677062+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.55",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: AIRE was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AIRE",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:43.010703+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZP3 was added\ngene: ZP3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: ZP3 was set to Unknown",
"entity_name": "ZP3",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.958474+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZP2 was added\ngene: ZP2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: ZP2 was set to Unknown",
"entity_name": "ZP2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.916629+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ZP1 was added\ngene: ZP1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: ZP1 was set to Unknown",
"entity_name": "ZP1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.776076+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WEE2 was added\ngene: WEE2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: WEE2 was set to Unknown",
"entity_name": "WEE2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.734602+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB8 was added\ngene: TUBB8 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: TUBB8 was set to Unknown",
"entity_name": "TUBB8",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.688805+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SYCE1 was added\ngene: SYCE1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: SYCE1 was set to Unknown",
"entity_name": "SYCE1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.630747+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Source Genetic Health QLD was added to STAG3.\nMode of inheritance for gene STAG3 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown",
"entity_name": "STAG3",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.577857+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOHLH2 was added\ngene: SOHLH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: SOHLH2 was set to Unknown",
"entity_name": "SOHLH2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.527980+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Source Genetic Health QLD was added to SOHLH1.\nMode of inheritance for gene SOHLH1 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown",
"entity_name": "SOHLH1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.481691+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGO2 was added\ngene: SGO2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: SGO2 was set to Unknown",
"entity_name": "SGO2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.442937+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POU5F1 was added\ngene: POU5F1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: POU5F1 was set to Unknown",
"entity_name": "POU5F1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.404101+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: POF1B was added\ngene: POF1B was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: POF1B was set to Unknown",
"entity_name": "POF1B",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.364527+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PGRMC1 was added\ngene: PGRMC1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: PGRMC1 was set to Unknown",
"entity_name": "PGRMC1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.325456+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PATL2 was added\ngene: PATL2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: PATL2 was set to Unknown",
"entity_name": "PATL2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.286641+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PANX1 was added\ngene: PANX1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: PANX1 was set to Unknown",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.235742+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Source Genetic Health QLD was added to NUP107.\nMode of inheritance for gene NUP107 was changed from BIALLELIC, autosomal or pseudoautosomal to Unknown",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.176712+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Source Genetic Health QLD was added to NR5A1.\nMode of inheritance for gene NR5A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to Unknown",
"entity_name": "NR5A1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.131060+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOG was added\ngene: NOG was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: NOG was set to Unknown",
"entity_name": "NOG",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.081317+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Source Genetic Health QLD was added to NOBOX.\nMode of inheritance for gene NOBOX was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to Unknown",
"entity_name": "NOBOX",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:42.034121+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NANOS3 was added\ngene: NANOS3 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: NANOS3 was set to Unknown",
"entity_name": "NANOS3",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:41.992374+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSH5 was added\ngene: MSH5 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: MSH5 was set to Unknown",
"entity_name": "MSH5",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:41.953582+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MRPS22 was added\ngene: MRPS22 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: MRPS22 was set to Unknown",
"entity_name": "MRPS22",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:41.912805+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FANCM was added\ngene: FANCM was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: FANCM was set to Unknown",
"entity_name": "FANCM",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:41.870988+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ERAL1 was added\ngene: ERAL1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: ERAL1 was set to Unknown",
"entity_name": "ERAL1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:41.831956+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EIF4ENIF1 was added\ngene: EIF4ENIF1 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: EIF4ENIF1 was set to Unknown",
"entity_name": "EIF4ENIF1",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:41.791536+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DACH2 was added\ngene: DACH2 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: DACH2 was set to Unknown",
"entity_name": "DACH2",
"entity_type": "gene"
},
{
"created": "2020-12-11T11:06:41.735775+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.53",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BTG4 was added\ngene: BTG4 was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Genetic Health QLD\nMode of inheritance for gene: BTG4 was set to Unknown",
"entity_name": "BTG4",
"entity_type": "gene"
},
{
"created": "2020-12-11T10:36:40.776256+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.51",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Amenorrhoea_Premature Ovarian Failure to Primary Ovarian Insufficiency_Premature Ovarian Failure",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-11T10:21:31.582998+11:00",
"panel_name": "Amenorrhoea_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.50",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel name changed from Amenorrhoea to Amenorrhoea_Premature Ovarian Failure\nPanel types changed to Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-12-11T10:00:47.493722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ECEL1P2 as ready",
"entity_name": "ECEL1P2",
"entity_type": "gene"
},
{
"created": "2020-12-11T10:00:47.478394+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecel1p2 has been classified as Red List (Low Evidence).",
"entity_name": "ECEL1P2",
"entity_type": "gene"
},
{
"created": "2020-12-11T10:00:38.269096+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ECEL1P2 as Red List (low evidence)",
"entity_name": "ECEL1P2",
"entity_type": "gene"
},
{
"created": "2020-12-11T10:00:38.255342+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ecel1p2 has been classified as Red List (Low Evidence).",
"entity_name": "ECEL1P2",
"entity_type": "gene"
},
{
"created": "2020-12-11T10:00:19.808995+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ECEL1P2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "ECEL1P2",
"entity_type": "gene"
},
{
"created": "2020-12-11T07:33:27.736368+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC32 were changed from craniofacial, cardiac and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-12-11T07:33:01.528468+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC32: Changed rating: GREEN; Changed phenotypes: Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123, Craniofacial, cardiac, laterality and neurodevelopmental anomalies; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-12-11T07:32:48.152596+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC32 were changed from Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-12-11T07:32:28.381578+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CCDC32 were changed from Craniofacial, cardiac, laterality and neurodevelopmental anomalies to Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123; Craniofacial, cardiac, laterality and neurodevelopmental anomalies",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-12-11T07:31:29.353647+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCDC32: Changed phenotypes: Cardiofacioneurodevelopmental syndrome (CFNDS), MIM#619123, Craniofacial, cardiac, laterality and neurodevelopmental anomalies",
"entity_name": "CCDC32",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:26:06.877565+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC40 as ready",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:26:06.869061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc40 has been classified as Red List (Low Evidence).",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:25:04.165017+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC40 was added\ngene: CDC40 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC40 were set to 33220177\nPhenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: CDC40 was set to RED\nAdded comment: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association. Gene referred to as PRP17 in paper. \nSources: Literature",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:22:59.000373+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC40 as ready",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:22:58.989781+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc40 has been classified as Red List (Low Evidence).",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:22:50.244637+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association. \r\nSources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association.\r\n\r\nGene referred to as PRP17 in paper.\r\n \r\nSources: Literature",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:22:21.908779+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association. \r\nSources: Literature; to: Single individual reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID, thrombocytopaenia, anaemia. Interaction with PPIL1 and mouse model support gene-disease association. \r\nSources: Literature",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:21:08.736177+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature; to: Single family reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Interaction with PPIL1 and mouse model supports gene-disease association. \r\nSources: Literature",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:20:39.299852+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDC40: Changed rating: RED",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:20:21.746106+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC40 was added\ngene: CDC40 was added to Cerebellar and Pontocerebellar Hypoplasia. Sources: Literature\nMode of inheritance for gene: CDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDC40 were set to 33220177\nPhenotypes for gene: CDC40 were set to Pontocerebellar hypoplasia; microcephaly; seizures\nReview for gene: CDC40 was set to GREEN\nAdded comment: 17 individuals from 9 unrelated families reported with bi-allelic variants in the gene and PCH, microcephaly, hypotonia, seizures, severe DD/ID. Mouse models support gene-disease association. \nSources: Literature",
"entity_name": "CDC40",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:10:19.289013+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPIL1 as ready",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:10:19.276112+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:10:03.746604+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPIL1 as Green List (high evidence)",
"entity_name": "PPIL1",
"entity_type": "gene"
},
{
"created": "2020-12-10T16:10:03.738631+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppil1 has been classified as Green List (High Evidence).",
"entity_name": "PPIL1",
"entity_type": "gene"
}
]
}