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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1310",
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"results": [
{
"created": "2021-06-04T20:01:05.721874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc45a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T20:00:54.766237+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7838",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T20:00:38.747635+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7837",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC45A2 were set to ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T20:00:20.494958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:59:55.609422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907, 14722913, 14961451; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574, MONDO:0011683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:59:28.069896+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC45A2 as ready",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:59:28.059994+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc45a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:59:25.055916+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.58",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC45A2 were changed from to Albinism, oculocutaneous, type IV, MIM# 606574; MONDO:0011683",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:58:54.219515+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.57",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC45A2 were set to ",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:58:25.069693+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.56",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC45A2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:57:59.414425+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC45A2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11574907, 14722913, 14961451; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574, MONDO:0011683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:55:47.603580+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYR as ready",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:55:47.592917+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyr has been classified as Green List (High Evidence).",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:55:39.370719+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7835",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100; MONDO:0008745; Albinism, oculocutaneous, type IB, MIM# 606952",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:55:17.547437+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7834",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:54:59.304993+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100, MONDO:0008745, Albinism, oculocutaneous, type IB, MIM# 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:54:13.511692+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYR as ready",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:54:13.492334+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyr has been classified as Green List (High Evidence).",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:54:10.174757+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYR were changed from to Albinism, oculocutaneous, type IA, MIM# 203100; MONDO:0008745; Albinism, oculocutaneous, type IB, MIM# 606952",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:53:24.762463+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.54",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:52:59.497830+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IA, MIM# 203100, Albinism, oculocutaneous, type IB, MIM# 606952; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:51:46.435529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYRP1 as ready",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:51:46.425050+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyrp1 has been classified as Green List (High Evidence).",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:51:34.512443+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7833",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYRP1 were changed from to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:51:04.569996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7832",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYRP1 were set to ",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:50:37.982526+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7831",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:50:20.646310+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:49:32.178666+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TYRP1 as ready",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:49:32.169467+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tyrp1 has been classified as Green List (High Evidence).",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:49:29.308641+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TYRP1 were changed from to Albinism, oculocutaneous, type III, MIM# 203290; MONDO:0008747",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:49:07.715904+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TYRP1 were set to ",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:48:41.746413+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TYRP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T19:48:16.999444+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TYRP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9345097; Phenotypes: Albinism, oculocutaneous, type III, MIM# 203290, MONDO:0008747; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:44:55.320586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MC1R as ready",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:44:55.308815+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc1r has been classified as Amber List (Moderate Evidence).",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:44:47.208899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7830",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:44:26.525968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7829",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MC1R were set to ",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:44:09.958679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7828",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:43:52.840123+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MC1R as Amber List (moderate evidence)",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:43:52.830154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7827",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc1r has been classified as Amber List (Moderate Evidence).",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:43:37.198903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MC1R: Rating: AMBER; Mode of pathogenicity: None; Publications: 12876664; Phenotypes: {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:42:53.959388+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MC1R as ready",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:42:53.949580+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc1r has been classified as Amber List (Moderate Evidence).",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:42:48.034919+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MC1R were changed from to {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:42:20.893852+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MC1R were set to ",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:41:59.764738+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MC1R was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:41:33.354999+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MC1R as Amber List (moderate evidence)",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:41:33.345290+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc1r has been classified as Amber List (Moderate Evidence).",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:41:05.139699+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MC1R: Rating: AMBER; Mode of pathogenicity: None; Publications: 12876664; Phenotypes: {Albinism, oculocutaneous, type II, modifier of}, MIM# 203200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MC1R",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:36:56.985186+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LYST as ready",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:36:56.976418+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lyst has been classified as Green List (High Evidence).",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:36:54.495104+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LYST were changed from to Chediak-Higashi syndrome, MIM# 214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:36:24.801655+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LYST was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:36:00.854054+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Chediak-Higashi syndrome, MIM# 214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:02:22.251794+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRMDA as ready",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:02:22.241419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrmda has been classified as Green List (High Evidence).",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:02:15.676881+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7826",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:01:55.370137+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7825",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRMDA were set to ",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:01:38.463184+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7824",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:01:22.453744+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23395477; Phenotypes: Albinism, oculocutaneous, type VII, MIM# 615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:00:34.960704+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRMDA as ready",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:00:34.948108+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrmda has been classified as Green List (High Evidence).",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:00:32.649544+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRMDA were changed from to Albinism, oculocutaneous, type VII, MIM# 615179; MONDO:0014070",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T18:00:10.691642+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRMDA were set to ",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:59:42.686693+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRMDA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:59:18.684042+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRMDA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23395477; Phenotypes: Albinism, oculocutaneous, type VII, MIM# 615179, MONDO:0014070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRMDA",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:57:55.434376+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR143 as ready",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:57:55.423069+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr143 has been classified as Green List (High Evidence).",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:57:53.210523+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR143 were changed from to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:57:31.614036+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPR143 were set to ",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:57:04.847392+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPR143 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-06-04T17:56:40.194895+10:00",
"panel_name": "Ocular and Oculocutaneous Albinism",
"panel_id": 37,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPR143: Rating: GREEN; Mode of pathogenicity: None; Publications: 7647783, 9529334, 11793467; Phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500, MONDO:0021019; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-06-04T16:25:33.775364+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SLC4A4 as ready",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-06-04T16:25:33.765148+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc4a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-06-04T16:25:15.055463+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC4A4 as Green List (high evidence)",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-06-04T16:25:15.045330+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.49",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc4a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-06-04T16:24:45.793481+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.48",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC4A4 was added\ngene: SLC4A4 was added to Alternating Hemiplegia and Hemiplegic Migraine. Sources: Literature\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A4 were set to 20798035; 33439394\nPhenotypes for gene: SLC4A4 were set to Renal tubular acidosis, proximal, with ocular abnormalities MIM#604278; hemiplegic migraine\nReview for gene: SLC4A4 was set to GREEN\nAdded comment: At least 3 homozygous cases/families (1 isolated case & 2 consanguineous families) with hemiplegic migraine along with renal tubular acidosis, and supporting functional evidence demonstrating loss of protein activity. An additional 3 homozygous cases also reported with migraine with or without aura. \nSources: Literature",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2021-06-04T15:11:53.922063+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SLC1A3 as Green List (high evidence)",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-06-04T15:11:53.911730+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.47",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: slc1a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-06-04T15:10:34.802234+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SLC1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29066757, 32754645, 16116111; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A3",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:52:40.423909+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PRRT2 as Green List (high evidence)",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:52:40.413518+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: prrt2 has been classified as Green List (High Evidence).",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:52:01.569835+10:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: PRRT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23077016, 23077026, 26598493, 26598494, 33126500; Phenotypes: Hemiplegic migraine; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRRT2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:45:22.977702+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-06-04T12:44:27.072639+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINF2 as ready",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:44:27.060332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinf2 has been classified as Green List (High Evidence).",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:44:20.529874+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7823",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINF2 were changed from to Alpha-2-plasmin inhibitor deficiency, MIM# 262850",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:44:02.917155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7822",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINF2 were set to ",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:43:43.352351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:43:24.334415+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2572590, 10583218, 31441040, 31282989, 29656168; Phenotypes: Alpha-2-plasmin inhibitor deficiency, MIM# 262850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:42:24.008952+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINF2 as ready",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:42:23.994139+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinf2 has been classified as Green List (High Evidence).",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:40:22.698901+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINF2 were changed from to Alpha-2-plasmin inhibitor deficiency, MIM# 262850",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:39:52.121403+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINF2 were set to ",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:39:19.435173+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERPINF2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:38:53.683597+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 2572590, 10583218, 31441040, 31282989, 29656168; Phenotypes: Alpha-2-plasmin inhibitor deficiency, MIM# 262850; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:35:35.087283+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINE1 as ready",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:35:35.076797+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpine1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:35:28.054777+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPINE1 were changed from to Plasminogen activator inhibitor-1 deficiency, MIM# 613329",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2021-06-04T12:35:08.067768+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.7819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPINE1 were set to ",
"entity_name": "SERPINE1",
"entity_type": "gene"
}
]
}