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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1159",
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"results": [
{
"created": "2021-10-25T15:45:23.348208+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.53",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS4 were changed from Hermansky-Pudlak syndrome 4 to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:45:12.276374+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS4 were set to 11836498; 15108212",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:44:59.768605+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.\r\n\r\nNystagmus is a feature.",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:44:42.464091+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS3 as ready",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:44:42.453901+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps3 has been classified as Green List (High Evidence).",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:44:40.540332+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS3 were changed from Hermansky-Pudlak syndrome 3 to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:44:32.392993+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HPS3 were set to 11455388; 11590544",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:44:19.105119+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.\r\n\r\nNystagmus is a feature.",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:43:58.200824+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPS1 as ready",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:43:58.190895+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hps1 has been classified as Green List (High Evidence).",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:43:56.435548+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPS1 were changed from Hermansky-Pudlak syndrome 1 to Hermansky-Pudlak syndrome 1, MIM# 203300; MONDO:0008748",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:43:43.385809+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.; to: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder in which oculocutaneous albinism, bleeding, and lysosomal ceroid storage result from defects of multiple cytoplasmic organelles: melanosomes, platelet-dense granules, and lysosomes. Well established gene-disease association.\r\n\r\nNystagmus is a feature.",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:43:03.325637+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCY2D as ready",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:43:03.312466+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy2d has been classified as Green List (High Evidence).",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:43:00.780829+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCY2D were changed from to Leber congenital amaurosis 1, MIM# 204000",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:42:53.082738+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCY2D were set to ",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:42:45.901789+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCY2D was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:42:35.094533+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 8944027, 16505055, 23035049; Phenotypes: Leber congenital amaurosis 1, MIM# 204000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:40:22.294339+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM6 as ready",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:40:22.284281+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm6 has been classified as Green List (High Evidence).",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:40:19.290798+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRM6 were set to ",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:40:08.319554+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:39:40.300359+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM6 as ready",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:39:40.289576+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm6 has been classified as Green List (High Evidence).",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:39:33.233527+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRM6 were changed from to Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:39:17.060989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRM6 were set to ",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:38:55.105372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRM6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:38:37.778495+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:37:47.478014+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM6 as ready",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:37:47.467839+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm6 has been classified as Green List (High Evidence).",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:37:43.442033+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRM6 were set to ",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:37:33.428157+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRM6: Rating: GREEN; Mode of pathogenicity: None; Publications: 22008250; Phenotypes: Night blindness, congenital stationary (complete), 1B, autosomal recessive 257270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRM6",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:32:59.508327+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: NYX: Changed publications: 11062471, 11062472, 16670814, 23714322, 34064005, 34165036",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:32:07.210869+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: NYX: Changed publications: 11062471, 11062472, 16670814, 23714322, 34064005",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:30:46.336646+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NYX: Rating: GREEN; Mode of pathogenicity: None; Publications: 11062471, 11062472, 16670814, 23714322; Phenotypes: Night blindness, congenital stationary (complete), 1A, X-linked MIM#310500; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:27:28.107937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRK1 as ready",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:27:28.097876+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk1 has been classified as Green List (High Evidence).",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:27:20.647750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRK1 were changed from to Oguchi disease-2, 613411",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:27:02.260392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9463",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRK1 were set to ",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:26:43.805231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9462",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRK1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:26:25.647158+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 17070587, 33252155; Phenotypes: Oguchi disease-2, 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:01:16.028811+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRK1 as ready",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:01:16.019093+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk1 has been classified as Green List (High Evidence).",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:01:13.378549+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRK1 were set to ",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T15:00:40.999789+11:00",
"panel_name": "Congenital Stationary Night Blindness",
"panel_id": 283,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33252155; Phenotypes: Oguchi disease-2 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:59:29.670536+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRK1 as ready",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:59:29.660986+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk1 has been classified as Red List (Low Evidence).",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:59:23.736551+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK1 as Red List (low evidence)",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:59:23.725871+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk1 has been classified as Red List (Low Evidence).",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:59:13.953327+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GRK1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Oguchi disease-2, MIM# 613411; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GRK1",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:54:44.452050+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR179 as ready",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:54:44.440404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr179 has been classified as Green List (High Evidence).",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:54:36.192884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9461",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR179 were changed from to Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565)",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:54:14.118479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9460",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPR179 were set to ",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:53:56.275632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9459",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPR179 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:53:38.940465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: 22325361; Phenotypes: Night blindness, congenital stationary (complete), 1E, autosomal recessive (MIM#614565); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:52:47.881232+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR179 as ready",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:52:47.870505+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gpr179 has been classified as Green List (High Evidence).",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:52:45.462367+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.43",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPR179 were set to ",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:52:33.079136+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GPR179: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:51:10.557233+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GPR143 as ready",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:51:10.547069+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.42",
"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": "2021-10-25T14:51:08.692161+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.42",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GPR143 were changed from Ocular albinism, type I; Nystagmus 6, congenital, X-linked, 300814; Ocular albinism, type I, Nettleship-Falls type, 300500 to Ocular albinism, type I, Nettleship-Falls type, MIM# 300500; MONDO:0021019; Nystagmus 6, congenital, X-linked, MIM# 300814",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:50:57.497085+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.41",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GPR143 were set to 21541274; 26061757; 26160353; 21423867",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:50:44.831349+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.40",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GPR143 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:50:35.159872+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.\r\n\r\nWell established gene-disease association.; to: Ocular albinism type I (OA1) is the most common form of ocular albinism. Clinical presentation of OA1 in Caucasians is characterized by nystagmus, impaired visual acuity, iris hypopigmentation with translucency, albinotic fundus, macular hypoplasia, and normally pigmented skin and hair. Carrier females usually have punctate iris translucency and a mottled pattern of fundus pigmentation. In contrast to Caucasian patients, black or Japanese patients with OA1 often have brown irides with little or no translucency and varying degrees of fundus hypopigmentation, the so-called 'nonalbinotic fundus'.\r\n\r\nWell established gene-disease association.\r\n\r\nAt least 3 families reported with isolated XL nystagmus.",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:50:15.368550+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GPR143: Changed publications: 7647783, 9529334, 11793467, 17516023, 18523664, 19390656; Changed phenotypes: Ocular albinism, type I, Nettleship-Falls type, MIM# 300500, MONDO:0021019, Nystagmus 6, congenital, X-linked, MIM# 300814",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:48:29.235050+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNB3 as ready",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:48:29.225114+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb3 has been classified as Red List (Low Evidence).",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:48:26.454715+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNB3 were set to ",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:48:18.699168+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNB3 as Red List (low evidence)",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:48:18.688407+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnb3 has been classified as Red List (Low Evidence).",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:48:01.709372+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GNB3: Changed rating: RED",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-25T14:47:55.523842+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.; to: Two families reported. One of the families is unusual in that individuals in one generation were compound hets, whereas individuals in another generation/branch of the family were homozygous for one of the variants. Chicken model supports gene-disease association.\r\n\r\nHowever, patients present with childhood-onset night blindness and middle age-onset photophobia, but have near-normal vision and do not exhibit nystagmus or high myopia.",
"entity_name": "GNB3",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:30:52.008492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAT2 as ready",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:30:51.998072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnat2 has been classified as Green List (High Evidence).",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:30:44.647586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9458",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAT2 were changed from to Achromatopsia 4, MIM#613856",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:30:25.851416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9457",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GNAT2 were set to ",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:30:08.860541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9456",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GNAT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:29:52.628460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9455",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: 32203983, 17251445; Phenotypes: Achromatopsia 4 MIM#613856; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:57.637397+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:41.332847+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAT2 as ready",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:41.323946+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnat2 has been classified as Green List (High Evidence).",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:24.962140+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GNAT1 as ready",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:24.952358+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnat1 has been classified as Red List (Low Evidence).",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:23.160018+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GNAT1 were changed from Night blindness, congenital stationary, autosomal dominant 3, 610444 to Night blindness, congenital stationary, autosomal dominant 3, IM# 610444; Night blindness, congenital stationary, type 1G, MIM# 616389",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:12.937053+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GNAT1 as Red List (low evidence)",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:12.924417+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gnat1 has been classified as Red List (Low Evidence).",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:28:04.053347+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GNAT1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Night blindness, congenital stationary, autosomal dominant 3, IM# 610444, Night blindness, congenital stationary, type 1G, MIM# 616389; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:24:28.250157+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GDF6: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:24:19.955779+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF6 as ready",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:24:19.925311+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Red List (Low Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:24:18.140359+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF6 were changed from to Leber congenital amaurosis 17, MIM# 615360",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:24:11.718738+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GDF6 were set to ",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:24:04.985222+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GDF6 was changed from to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:23:58.149351+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF6 as Red List (low evidence)",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:23:58.140425+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf6 has been classified as Red List (Low Evidence).",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:23:47.193925+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF6: Rating: RED; Mode of pathogenicity: None; Publications: 23307924; Phenotypes: Leber congenital amaurosis 17, MIM# 615360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GDF6",
"entity_type": "gene"
},
{
"created": "2021-10-25T13:04:46.812309+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: NMNAT1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30004997, 33668384, 33308271, 33308271, 32150116, 22842230, 22842231, 22842227, 29184169; Phenotypes: Leber congenital amaurosis 9 MIM#608553, Spondyloepiphyseal dysplasia, sensorineural hearing loss, intellectual developmental disorder, and Leber congenital amaurosis MIM#619260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2021-10-25T12:57:29.124458+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.31",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: PAX6: Rating: GREEN; Mode of pathogenicity: None; Publications: 15629294, 9931324, 8162071]; Phenotypes: Foveal hypoplasia 1 136520; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes",
"entity_name": "PAX6",
"entity_type": "gene"
}
]
}