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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=905",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=903",
"results": [
{
"created": "2022-03-29T15:06:51.182031+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: OPN1MW.",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:06:25.403928+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPN1MW as ready",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:06:25.388858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1mw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:06:17.097274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPN1MW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, deutan - MIM#303800",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:05:52.477428+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPN1MW were set to ",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:05:31.931170+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPN1MW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:05:12.848402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPN1MW as Amber List (moderate evidence)",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:05:12.836125+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1mw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:04:54.857913+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: OPN1MW.",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:04:27.727556+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FLT4 as ready",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:04:27.715840+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flt4 has been classified as Green List (High Evidence).",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:04:24.826073+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FLT4 were changed from to Lymphatic malformation 1, MIM# 153100",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:03:01.671022+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLT4 were set to ",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:02:30.740148+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FLT4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:01:45.281004+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPN1LW as ready",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:01:45.271498+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1lw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:01:42.398309+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPN1LW were changed from Blue cone monochromacy MIM#303700; Colorblindness, protan MIM#303900 to Blue cone monochromacy MIM#303700; Colourblindness, protan MIM#303900",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:01:35.863161+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPN1LW were set to 30679166",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:01:22.072407+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPN1LW as Amber List (moderate evidence)",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:01:22.061804+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1lw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T15:01:15.093604+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: OPN1LW.",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:59:15.170525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPN1LW as ready",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:59:15.160868+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1lw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:59:05.392632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPN1LW were changed from to Blue cone monochromacy - MIM#303700; Colourblindness, protan - MIM#303900",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:58:22.910884+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HAVCR2 as ready",
"entity_name": "HAVCR2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:58:22.899089+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: havcr2 has been classified as Green List (High Evidence).",
"entity_name": "HAVCR2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:57:39.783381+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HAVCR2 as Green List (high evidence)",
"entity_name": "HAVCR2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:57:39.767456+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: havcr2 has been classified as Green List (High Evidence).",
"entity_name": "HAVCR2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:57:03.787879+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HAVCR2 was added\ngene: HAVCR2 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: HAVCR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HAVCR2 were set to 30792187; 30374066\nPhenotypes for gene: HAVCR2 were set to T-cell lymphoma, subcutaneous panniculitis-like, MIM# 618398\nReview for gene: HAVCR2 was set to GREEN\ngene: HAVCR2 was marked as current diagnostic\nAdded comment: Hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation, is a common feature of the condition. \nSources: Expert list",
"entity_name": "HAVCR2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:20:53.671585+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GATA2 as ready",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:20:53.643944+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:20:48.438233+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GATA2 as Green List (high evidence)",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:20:48.429462+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.126",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gata2 has been classified as Green List (High Evidence).",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-03-29T14:19:55.539829+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.125",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATA2 was added\ngene: GATA2 was added to Disorders of immune dysregulation. Sources: Expert list\nMode of inheritance for gene: GATA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA2 were set to 26395816; 27169477; 29493060; 30564229; 31350183; 33410496; 33684095; 34040617\nPhenotypes for gene: GATA2 were set to GATA2 deficiency with susceptibility to MDS/AML (MONDO:0042982)\nReview for gene: GATA2 was set to GREEN\ngene: GATA2 was marked as current diagnostic\nAdded comment: At least 8 GATA2 deficiency cases reported with hemophagocytic lymphohistiocytosis (HLH), a disorder of uncontrolled immune activation. \nSources: Expert list",
"entity_name": "GATA2",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:26:02.346810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12235",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to 22461475; 21665000; 32245340",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:24:39.521437+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12234",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Green List (high evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:24:39.512192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12234",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:14:22.049978+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12233",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32245340, 33543539, 29054114, 26575419, 22461475, 10610180; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:12:12.943592+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.124",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: BLOC1S6 were set to 22461475; 21665000",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:10:51.505460+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: BLOC1S6 as Green List (high evidence)",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:10:51.492880+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.123",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: bloc1s6 has been classified as Green List (High Evidence).",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T13:09:56.041551+11:00",
"panel_name": "Disorders of immune dysregulation",
"panel_id": 229,
"panel_version": "0.122",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: BLOC1S6: Rating: GREEN; Mode of pathogenicity: None; Publications: 32245340, 33543539, 29054114, 26575419, 22461475, 10610180; Phenotypes: Hermansky-Pudlak syndrome 9, MIM# 614171; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BLOC1S6",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:44:31.784613+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPN1LW were set to ",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:44:03.168469+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPN1LW was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:43:44.047898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OPN1LW as Amber List (moderate evidence)",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:43:44.037783+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: opn1lw has been classified as Amber List (Moderate Evidence).",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:43:25.408672+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: OPN1LW.",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:42:55.698041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINA6 as ready",
"entity_name": "SERPINA6",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:42:55.683219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpina6 has been classified as Green List (High Evidence).",
"entity_name": "SERPINA6",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:42:46.142068+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINA6 were changed from to Corticosteroid-binding globulin deficiency, MIM#611489; Corticosteroid-binding globulin deficiency, MONDO#0012675",
"entity_name": "SERPINA6",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:42:22.939400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINA6 were set to ",
"entity_name": "SERPINA6",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:42:01.074140+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINA6 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINA6",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:41:02.647807+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINA1 as ready",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:41:02.634878+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:40:59.808461+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM#613490; Emphysema-cirrhosis, due to AAT deficiency, MIM#613490; Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490; alpha 1-antitrypsin deficiency, MONDO#0013282",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:40:29.990852+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINA1 were set to ",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:40:00.139848+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:39:09.264309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINA1 as ready",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:39:09.253959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpina1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:39:00.607560+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINA1 were changed from to Emphysema due to AAT deficiency, MIM#613490; Emphysema-cirrhosis, due to AAT deficiency, MIM#613490; Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490; alpha 1-antitrypsin deficiency, MONDO#0013282",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:38:39.574063+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINA1 were set to ",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:38:18.427463+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:30:38.719161+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4635",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: RAB3GAP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23420520, 32376645; Phenotypes: Martsolf syndrome (MIM212720), Warburg micro syndrome 2 (MIM#614225); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2022-03-29T12:00:36.286683+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: 29800624, 23122587; Phenotypes: Deafness, autosomal recessive 18B - MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTOG",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:54:30.822849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OTC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ornithine transcarbamylase deficiency - MIM#311250; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:52:24.147071+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OSTM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 12627228, 15108279, 16813530, 23772242, 32048120; Phenotypes: Osteopetrosis, autosomal recessive 5 (MIM#259720); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:51:02.230573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OSMR: Rating: GREEN; Mode of pathogenicity: None; Publications: 19375894, 19528426, 25054142, 20507362, 19690585; Phenotypes: Amyloidosis, primary localized cutaneous, 1 - MIM#105250; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSMR",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:35:40.600366+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OSBPL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25077649, 25759012, 31451425, 30894143; Phenotypes: Deafness, autosomal dominant 67 - MIM#616340; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OSBPL2",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:34:01.978855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "changed review comment from: No mendelian gene disease association; to: No mendelian gene disease association reported",
"entity_name": "OR2J3",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:33:51.841168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OR2J3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "OR2J3",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:23:20.685836+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OPN1SW: Rating: GREEN; Mode of pathogenicity: None; Publications: 1531728, 2937147, 22065927, 32400513, 31944634; Phenotypes: Colorblindness, tritan - MIM#190900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "OPN1SW",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:11:39.378800+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.34",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OPN1MW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, deutan - MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:11:36.346858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OPN1MW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, deutan - MIM#303800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1MW",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:08:34.776941+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.34",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:07:55.694804+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.241",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: FLT4: Rating: GREEN; Mode of pathogenicity: None; Publications: 16231305, 16965327; Phenotypes: Lymphatic malformation 1, MIM# 153100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FLT4",
"entity_type": "gene"
},
{
"created": "2022-03-29T11:06:28.399013+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: OPN1LW: Rating: AMBER; Mode of pathogenicity: None; Publications: 25168334, 32860923; Phenotypes: Blue cone monochromacy - MIM#303700, Colorblindness, protan - MIM#303900; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2022-03-29T10:22:47.369860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERPINA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 11502797, 27214312, 21795453, 34308089, 22013108; Phenotypes: Corticosteroid-binding globulin deficiency, MIM#611489, Corticosteroid-binding globulin deficiency, MONDO#0012675; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINA6",
"entity_type": "gene"
},
{
"created": "2022-03-29T09:13:39.993679+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.225",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T09:13:30.445453+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease relationship\r\n\r\nRated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship\r\n\r\nRated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.\r\n\r\nMUTATIONAL & CLINICAL SPECTRUM\r\nZZ genotype: 2% have severe, neonatal/early-onset liver disease (potentially fatal/requiring liver transplantation), up to 6% have childhood onset liver disease. Also associated with adult-onset lung disease particularly emphysema (50%+ penetrance) - smoking is an important risk factor (close to 100% penetrance).\r\n\r\nTREATMENT\r\nThere is no specific treatment for liver disease beyond transplant. There is treatment (AAT augmentation therapy) available to delay progression of lung disease phenotype.",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T09:11:42.526397+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "changed review comment from: Well established gene-disease association\r\n\r\nRated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.; to: Well established gene-disease relationship\r\n\r\nRated as C by babyseq due to low penetrance in childhood. Can cause hepatic dysfunction in infancy. Identification would prevent further investigation and potentially lead to optimising respiratory health due to adult onset respiratory involvement.",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T09:08:37.877647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERPINA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301692, 9041988, 34408829; Phenotypes: Emphysema due to AAT deficiency, MIM#613490, Emphysema-cirrhosis, due to AAT deficiency, MIM#613490, Hemorrhagic diathesis due to antithrombin Pittburgh, MIM#613490, alpha 1-antitrypsin deficiency, MONDO#0013282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERPINA1",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:21:37.318385+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: THRA as ready",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:21:37.307890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: thra has been classified as Green List (High Evidence).",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:21:29.455113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: THRA were changed from to Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:21:11.699782+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: THRA were set to ",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:20:51.914331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: THRA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:20:34.165849+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: THRA: Rating: GREEN; Mode of pathogenicity: None; Publications: 25135573, 27381958, 24847459, 27144938; Phenotypes: Hypothyroidism, congenital, nongoitrous, 6, MIM# 614450; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "THRA",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:19:04.460728+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4635",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: KCND3 were set to 32823520",
"entity_name": "KCND3",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:18:48.578538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM1 as ready",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:18:48.566779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm1 has been classified as Green List (High Evidence).",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:18:40.304628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM1 were changed from to Ichthyosis, congenital, autosomal recessive 1, MIM#242300",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:18:21.360382+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM1 were set to ",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:18:01.515289+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGM1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:17:40.544396+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19890349, 24261627, 30302839; Phenotypes: Ichthyosis, congenital, autosomal recessive 1, MIM#242300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:16:04.643770+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TGM3 as ready",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:16:04.629353+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tgm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:15:48.901930+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TGM3 were changed from to Uncombable hair syndrome 2 MIM#617251",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:15:28.241830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TGM3 were set to ",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:15:08.732308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TGM3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TGM3",
"entity_type": "gene"
},
{
"created": "2022-03-29T08:14:51.079726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TGM3 as Amber List (moderate evidence)",
"entity_name": "TGM3",
"entity_type": "gene"
}
]
}