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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1156",
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"results": [
{
"created": "2021-10-27T15:52:21.235366+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETHE1 as Green List (high evidence)",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:52:21.224677+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.381",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:51:56.639191+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.380",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ETHE1 was added\ngene: ETHE1 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: ETHE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETHE1 were set to 14732903; 28933811\nPhenotypes for gene: ETHE1 were set to Ethylmalonic encephalopathy , MIM#602473\nReview for gene: ETHE1 was set to GREEN\nAdded comment: Severe metabolic disorder characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.\r\n\r\nMultiple families reported. \nSources: Expert Review",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:50:27.894810+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:50:27.883594+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Red List (Low Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:50:25.529112+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:50:02.183727+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETHE1 were set to ",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:49:30.763169+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:49:02.291834+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ETHE1 as Red List (low evidence)",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:49:02.281246+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Red List (Low Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:48:38.728834+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: RED; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:47:32.633991+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:47:32.621489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:47:28.091789+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:46:53.362568+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETHE1 were set to ",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:46:25.241560+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:45:48.154751+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:44:51.235844+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:44:51.225080+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:44:48.061146+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1368",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy , MIM#602473",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:44:07.520575+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1367",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETHE1 were set to ",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:43:37.202864+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1366",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:42:42.211335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1365",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:40:34.049801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: ETHE1: Severe metabolic disorder characterized by neurodevelopmental delay and regression, prominent pyramidal and extrapyramidal signs, recurrent petechiae, orthostatic acrocyanosis, and chronic diarrhoea. Brain MRI shows necrotic lesions in deep gray matter structures.",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:33:31.308316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETHE1 as ready",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:33:31.298551+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ethe1 has been classified as Green List (High Evidence).",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:33:23.455676+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ETHE1 were changed from to Ethylmalonic encephalopathy, MIM#602473",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:33:00.975404+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETHE1 were set to ",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:32:41.433219+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ETHE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:32:24.364103+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ethylmalonic encephalopathy , MIM#602473; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:29:41.029059+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ROM1 as ready",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:29:41.017463+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rom1 has been classified as Red List (Low Evidence).",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:29:39.136289+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ROM1 were changed from to Retinitis pigmentosa 7, digenic form, MIM#\t608133",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:29:21.173365+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ROM1 were set to ",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:29:12.359479+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ROM1 was changed from to Other",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:29:05.683006+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ROM1 as Red List (low evidence)",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:29:05.673011+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rom1 has been classified as Red List (Low Evidence).",
"entity_name": "ROM1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:21:29.129044+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.106",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: RPGRIP1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23505306; Phenotypes: Leber congenital amaurosis, congenital nystagmus; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:14:41.871295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHO as ready",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T15:14:41.853149+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rho has been classified as Green List (High Evidence).",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:30:42.210180+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHO were changed from to Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:29:27.956501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHO were set to ",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:29:08.785420+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RHO was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:28:48.593066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RHO: Rating: GREEN; Mode of pathogenicity: None; Publications: 18487375, 27812022, 31213501, 1303237; Phenotypes: Night blindness, congenital stationary, autosomal dominant 1, MIM# 610445, Retinitis pigmentosa 4, autosomal dominant or recessive, MIM# 613731; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:27:29.301214+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RHO as ready",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:27:29.290627+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rho has been classified as Red List (Low Evidence).",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:27:27.337436+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RHO were changed from Night blindness, congenital stationary autosomal dominant 1; Retinitis punctata albescens; Retinitis pigmentosa to Night blindness, congenital stationary, autosomal dominant 1, MIM#\t610445; Retinitis pigmentosa 4, autosomal dominant or recessive, MIM#\t613731",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:26:47.154830+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RHO were set to ",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:26:36.832101+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RHO as Red List (low evidence)",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:26:36.822995+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rho has been classified as Red List (Low Evidence).",
"entity_name": "RHO",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:25:30.061228+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH12 as ready",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:25:30.048192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh12 has been classified as Green List (High Evidence).",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:25:22.837810+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RDH12 were changed from to Leber congenital amaurosis 13, MIM# 612712; Retinitis pigmentosa, autosomal dominant",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:25:04.310722+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RDH12 were set to ",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:24:43.713663+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH12 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:24:23.983898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 16269441, 15322982, 15258582, 31505163; Phenotypes: Leber congenital amaurosis 13, MIM# 612712, Retinitis pigmentosa, autosomal dominant; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:22:57.155258+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RDH12 as ready",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:22:57.144766+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rdh12 has been classified as Green List (High Evidence).",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:22:54.354929+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RDH12 were changed from to Leber congenital amaurosis 13, MIM# 612712",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:22:45.765705+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RDH12 were set to ",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:22:31.726816+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RDH12 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:22:21.811178+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RDH12: Rating: GREEN; Mode of pathogenicity: None; Publications: 31505163; Phenotypes: Leber congenital amaurosis 13, MIM# 612712; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:17:30.403135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RD3 as ready",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:17:30.392598+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rd3 has been classified as Green List (High Evidence).",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T14:17:22.672363+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RD3 were changed from to Leber congenital amaurosis 12, MIM#610612",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T13:00:14.220987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RD3 were set to ",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:59:11.665596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9491",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RD3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:58:52.718695+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23308101, 22531706, 17186464; Phenotypes: Leber congenital amaurosis 12, MIM#610612; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:56:34.643803+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RD3 as ready",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:56:34.632349+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rd3 has been classified as Green List (High Evidence).",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:56:32.331034+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RD3 were changed from to Leber congenital amaurosis 12 MIM#610612",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:56:25.117777+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RD3 were set to ",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:56:17.873000+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RD3 was changed from to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RD3",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:55:50.305830+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB27A as ready",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:55:50.296145+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab27a has been classified as Red List (Low Evidence).",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:55:45.431514+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB27A as Red List (low evidence)",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:55:45.420622+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab27a has been classified as Red List (Low Evidence).",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:55:36.730496+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2 MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RAB27A",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:42:43.246814+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: IFT74 as ready",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:42:43.235769+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ift74 has been classified as Green List (High Evidence).",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:42:38.551333+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM# 619585",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:42:08.937029+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582, Spermatogenic failure 58, MIM# 619585",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:41:43.266719+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9490",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome; Spermatogenic failure 58, MIM#\t619585 to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582; Spermatogenic failure 58, MIM#\t619585",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:41:19.511000+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582, Spermatogenic failure 58, MIM# 619585",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:40:46.149455+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome to Bardet-Biedl syndrome 20, MIM# 617119; Joubert syndrome 40, MIM# 619582",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:40:12.678395+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IFT74: Changed phenotypes: Bardet-Biedl syndrome 20, MIM# 617119, Joubert syndrome 40, MIM# 619582",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:39:58.430542+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IFT74 were changed from Joubert syndrome to Joubert syndrome 40, MIM# 619582",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:39:29.362293+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IFT74: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 40, MIM# 619582; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "IFT74",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:38:40.349992+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.294",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:38:23.432405+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.293",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:38:10.821294+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:37:46.234220+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.329",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXOSC5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:37:13.376790+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:36:50.444273+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9489",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:36:30.557778+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9488",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EXOSC5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:36:11.776104+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EXOSC5 were changed from Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia to Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM#\t619576; Short stature; Motor developmental delays; Cerebellar hypoplasia; Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T12:35:35.532631+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: EXOSC5: Changed phenotypes: Cerebellar ataxia, brain abnormalities, and cardiac conduction defects, MIM# 619576, Short stature, Motor developmental delays, Cerebellar hypoplasia, Ataxia",
"entity_name": "EXOSC5",
"entity_type": "gene"
},
{
"created": "2021-10-27T11:50:03.248190+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12960219, 14962443; Phenotypes: Leber congenital amaurosis 2, retinal diseases; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2021-10-27T11:42:33.490484+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "0.96",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RDH5: Rating: RED; Mode of pathogenicity: None; Publications: 15790919, 14718298, 11812441, 10369264; Phenotypes: Fundus albipunctatus 136880; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2021-10-27T11:02:50.851507+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.9488",
"user_name": "Melanie Marty",
"item_type": "entity",
"text": "reviewed gene: ETHE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 14732903, 28933811; Phenotypes: Ethylmalonic encephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETHE1",
"entity_type": "gene"
}
]
}