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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=844",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=842",
"results": [
{
"created": "2022-05-12T18:03:06.923804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REST as ready",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:03:06.909377+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rest has been classified as Green List (High Evidence).",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:02:58.047503+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REST were changed from to Deafness, autosomal dominant 27, MIM# 612431; {Wilms tumor 6, susceptibility to}, MIM# 616806; Fibromatosis, gingival, 5, MIM# 617626",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:02:28.495578+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REST were set to ",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2022-05-12T18:02:08.140551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: REST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:59:37.270411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REST: Rating: GREEN; Mode of pathogenicity: None; Publications: 29961578, 34828371, 26551668, 28686854; Phenotypes: Deafness, autosomal dominant 27, MIM# 612431, {Wilms tumor 6, susceptibility to}, MIM# 616806, Fibromatosis, gingival, 5, MIM# 617626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "REST",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:53:15.518118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REEP6 as ready",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:53:15.502760+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: reep6 has been classified as Green List (High Evidence).",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:53:06.859128+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REEP6 were changed from to Retinitis pigmentosa 77, MIM# 617304",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:52:44.642584+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: REEP6 were set to ",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:52:37.079163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14172",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10391211, 10465120, 10465120, 10484783, 29425069, 31213501; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:52:23.060238+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: REEP6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:52:01.564297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REEP6: Rating: GREEN; Mode of pathogenicity: None; Publications: 27889058, 33917198, 31538292, 29120066, 28475715; Phenotypes: Retinitis pigmentosa 77, MIM# 617304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "REEP6",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:49:10.642077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RCBTB1 as ready",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:49:10.629870+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rcbtb1 has been classified as Green List (High Evidence).",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:49:00.784326+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31213501, 15863674, 15863674; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:48:29.158481+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RCBTB1 were changed from to Retinal dystrophy with or without extraocular anomalies, MIM# 617175",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:48:04.650331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RCBTB1 were set to ",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:47:32.368226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RCBTB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:47:09.677497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RCBTB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27486781, 35057699, 33624564, 33104391; Phenotypes: Retinal dystrophy with or without extraocular anomalies, MIM# 617175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RCBTB1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:45:44.236909+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:43:19.211923+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RP1: Rating: ; Mode of pathogenicity: None; Publications: 10391211, 10465120, 10465120, 10484783, 29425069, 31213501; Phenotypes: Retinitis pigmentosa 1 MIM#180100; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RP1",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:11:18.237157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FZD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-05-12T17:00:49.329902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FZD2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25759469, 30455931, 29383834, 29230162; Phenotypes: Autosomal dominant omodysplasia MONDO:0008123; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FZD2",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:55:36.015659+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FSHB as ready",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:55:36.002310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fshb has been classified as Green List (High Evidence).",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:54:17.347851+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FSHB were changed from to Hypogonadotropic hypogonadism 24 without anosmia MONDO:0009239",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:41:32.332741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FSHB were set to ",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:37:55.892864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:35:30.110856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 8220432, 9280841, 9624193, 9806482, 9271483, 16630814; Phenotypes: Hypogonadotropic hypogonadism 24 without anosmia MONDO:0009239; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FSHB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:35:19.604956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FRZB as ready",
"entity_name": "FRZB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:35:19.593559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: frzb has been classified as Red List (Low Evidence).",
"entity_name": "FRZB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:32:50.180990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FRZB were changed from to {Osteoarthritis susceptibility 1} MIM#165720",
"entity_name": "FRZB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:32:02.198833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FRRS1L as ready",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:32:02.160312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: frrs1l has been classified as Green List (High Evidence).",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:17:32.118836+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FRRS1L were changed from to Developmental and epileptic encephalopathy, 37 MONDO:0014859",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:17:22.323328+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FRZB were set to ",
"entity_name": "FRZB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:14:35.538814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FRZB as Red List (low evidence)",
"entity_name": "FRZB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:14:35.527739+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: frzb has been classified as Red List (Low Evidence).",
"entity_name": "FRZB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:14:24.530549+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FRRS1L were set to ",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:11:41.487080+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FRRS1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:11:08.903254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FRZB: Rating: RED; Mode of pathogenicity: None; Publications: 15210948; Phenotypes: {Osteoarthritis susceptibility 1} MIM#165720; Mode of inheritance: Unknown",
"entity_name": "FRZB",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:06:29.939208+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FRRS1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 27236917, 27239025, 30692144; Phenotypes: Developmental and epileptic encephalopathy, 37 MONDO:0014859; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FRRS1L",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:00:59.663820+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXN1 as ready",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-05-12T16:00:59.652199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxn1 has been classified as Green List (High Evidence).",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:59:50.587302+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBPJ as ready",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:59:50.577990+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbpj has been classified as Green List (High Evidence).",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:59:41.736473+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBPJ were changed from to Adams-Oliver syndrome 3, MIM# 614814",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:59:25.823105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FOXN1 were changed from to T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0011132",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:59:18.885754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBPJ were set to ",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:58:58.582551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBPJ was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:58:38.523138+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBPJ: Rating: GREEN; Mode of pathogenicity: None; Publications: 22883147, 29924900; Phenotypes: Adams-Oliver syndrome 3, MIM# 614814; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RBPJ",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:53:08.052147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXN1 were set to ",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:50:29.199664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXN1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:48:16.559252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FOXN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 10206641, 20978268, 20978268, 28636882, 31566583, 31447097; Phenotypes: T-cell immunodeficiency, congenital alopecia, and nail dystrophy MONDO:0011132; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:32:17.597720+10:00",
"panel_name": "Severe Combined Immunodeficiency (absent T present B cells)",
"panel_id": 235,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FOXN1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:28:35.969016+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXI1 as ready",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:28:35.957864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxi1 has been classified as Green List (High Evidence).",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:25:41.668988+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.133",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FOXI1 were changed from Enlarged vestibular aqueduct, MIM#\t600791 to autosomal recessive distal renal tubular acidosis MONDO:0018440",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:24:36.493278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14152",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FOXI1 were changed from to autosomal recessive distal renal tubular acidosis MONDO:0018440",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:22:32.472125+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14151",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXI1 were set to ",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:15:31.405124+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.132",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXI1 were set to 29242249; 9843211; 17503324",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:14:50.619062+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843211, 12642503, 29242249, 17503324, 30268946, 27997596, 22285650, 23965030, 24860705, 32447495, 19204907; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:09:26.178589+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14150",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXI1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T15:07:21.308830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FOXI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9843211, 12642503, 29242249, 17503324, 30268946, 27997596, 22285650, 23965030, 24860705, 32447495, 19204907; Phenotypes: autosomal recessive distal renal tubular acidosis MONDO:0018440; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:43:28.152455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXD3 as ready",
"entity_name": "FOXD3",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:43:28.141587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxd3 has been classified as Red List (Low Evidence).",
"entity_name": "FOXD3",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:40:10.634899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FOXD3 were changed from to Autoimmune disease, susceptibility to, 1 MONDO:0011919",
"entity_name": "FOXD3",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:38:30.206580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXD3 were set to ",
"entity_name": "FOXD3",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:37:15.409376+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXD3 as Red List (low evidence)",
"entity_name": "FOXD3",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:37:15.399985+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxd3 has been classified as Red List (Low Evidence).",
"entity_name": "FOXD3",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:35:27.539571+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: FXTAS as ready",
"entity_name": "FXTAS",
"entity_type": "str"
},
{
"created": "2022-05-12T10:35:27.526220+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxtas has been classified as Green List (High Evidence).",
"entity_name": "FXTAS",
"entity_type": "str"
},
{
"created": "2022-05-12T10:34:01.236639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FOXD3: Rating: RED; Mode of pathogenicity: None; Publications: 16098053; Phenotypes: Autoimmune disease, susceptibility to, 1 MONDO:0011919; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXD3",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:33:15.993822+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: FXTAS as Green List (high evidence)",
"entity_name": "FXTAS",
"entity_type": "str"
},
{
"created": "2022-05-12T10:33:15.980821+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.131",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: fxtas has been classified as Green List (High Evidence).",
"entity_name": "FXTAS",
"entity_type": "str"
},
{
"created": "2022-05-12T10:23:16.028487+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.130",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: FXTAS was added\nSTR: FXTAS was added to Early-onset Parkinson disease. Sources: Literature\nMode of inheritance for STR: FXTAS was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for STR: FXTAS were set to 27340021; 28176767; 20301558; 23765048; 25227148; 11445641\nPhenotypes for STR: FXTAS were set to Fragile X tremor/ataxia syndrome MIM#300623\nReview for STR: FXTAS was set to GREEN\nSTR: FXTAS was marked as clinically relevant\nAdded comment: Parkinsonism is a common feature of FXTAS, which is associated with the premutation.\r\nHGVS nomenclature - NM_002024.5:c.-129_-127CGG[X]\r\nRNA-mediated toxicity may result in the FXTAS phenotype, whereas loss of function through methylation silencing of FMR1 is associated with the FXS phenotype.\r\nIntermediate (grey zone, inconclusive, borderline): ~45 to ~54 repeats\r\nPremutation - risk of FXTAS: ~55 to ~200 repeats\r\nFull mutation - fragile X syndrome (FXS): >200 repeats \nSources: Literature",
"entity_name": "FXTAS",
"entity_type": "str"
},
{
"created": "2022-05-12T10:18:54.729803+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.129",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FMR1 were changed from Fragile X tremor/ataxia syndrome MIM#300623; Fragile X syndrome MIM#300624 to Fragile X tremor/ataxia syndrome MIM#300623",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:17:32.694343+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.128",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FMR1 were set to 27340021; 28176767",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:16:48.201196+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Parkinsonism can be a relatively common feature of the condition. The major cause of the condition is 5'UTR repeat expansion, but at least 6 pathogenic intragenic SNV or small indels have been reported in affected males.; to: Parkinsonism can be a relatively common feature of FXTAS, which is caused by 5'UTR repeat expansion.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:16:04.107990+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FMR1: Changed publications: 27340021, 28176767, 20301558; Changed phenotypes: Fragile X tremor/ataxia syndrome MIM#300623",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:14:59.511177+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FMR1 as ready",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:14:59.501731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmr1 has been classified as Green List (High Evidence).",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:14:00.796831+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FMR1 as No list",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:14:00.790542+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Parkinsonism is a feature of FXTAS and is not reported in cases with intragenic variants, which have the FXS phenotype. Added as an STR.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:14:00.749660+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.127",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fmr1 has been removed from the panel.",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T10:13:56.079411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FMR1 were changed from to Fragile X syndrome MONDO:0010383",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:59:33.781915+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBP3 as ready",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:59:33.769434+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbp3 has been classified as Green List (High Evidence).",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:59:23.731331+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19074801, 29571629, 26066594, 25766589; Phenotypes: Retinitis pigmentosa 66, MIM# 615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:58:46.330037+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBP3 as ready",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:58:46.321191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbp3 has been classified as Green List (High Evidence).",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:58:37.949763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBP3 were changed from to Retinitis pigmentosa 66, MIM# 615233",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:58:10.869892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBP3 were set to ",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:57:46.966409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBP3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:57:25.031678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 19074801, 29571629, 26066594, 25766589; Phenotypes: Retinitis pigmentosa 66, MIM# 615233; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:54:26.005745+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM28 as ready",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:54:25.994572+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:54:23.599074+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM28 were changed from ANE syndrome; ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079) to ANE syndrome; Alopecia, neurologic defects, and endocrinopathy syndrome (612079)",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:54:17.113653+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM28 were set to 20231366",
"entity_name": "RBM28",
"entity_type": "gene"
}
]
}