HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220497,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1541",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1539",
"results": [
{
"created": "2020-10-14T21:48:36.619644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FKBP14 as ready",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:48:36.611426+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fkbp14 has been classified as Green List (High Evidence).",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:48:29.509647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4916",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FKBP14 were changed from to Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:48:13.035811+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4915",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FKBP14 were set to ",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:47:57.224759+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKBP14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:47:38.906059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FKBP14: Rating: GREEN; Mode of pathogenicity: None; Publications: 22265013, 24773188, 27149304, 31132235, 30561154, 28617417; Phenotypes: Ehlers-Danlos syndrome, kyphoscoliotic type, 2, MIM# 614557; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKBP14",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:17:11.108853+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:17:11.096752+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:17:05.929541+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to 23222957; 26917586",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:16:45.408816+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:16:38.678803+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from Vici syndrome, MIM# 242840 to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:16:26.892057+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to ",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:16:10.665303+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:16:10.653324+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:16:01.634410+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3068",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:15:20.608067+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:14:51.430780+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:14:39.249038+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3067",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to ",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:13:22.082175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3066",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:12:49.228236+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3065",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:11:55.569993+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:11:55.560631+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:11:53.000139+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:11:28.661740+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to ",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:10:59.194248+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:10:29.038099+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:10:19.177134+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:10:19.165834+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:09:57.672934+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPG5 as Green List (high evidence)",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:09:57.662804+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:09:29.661826+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPG5 was added\ngene: EPG5 was added to Cataract. Sources: Expert Review\nMode of inheritance for gene: EPG5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPG5 were set to 23222957; 26917586\nPhenotypes for gene: EPG5 were set to Vici syndrome, MIM# 242840\nReview for gene: EPG5 was set to GREEN\nAdded comment: Vici syndrome is a rare congenital multisystem disorder characterized by agenesis of the corpus callosum (ACC), cataracts, pigmentary defects, progressive cardiomyopathy, and variable immunodeficiency. Affected individuals also have profound psychomotor retardation and hypotonia due to a myopathy. Well established gene disease association, over 50 families reported. \nSources: Expert Review",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:09:27.055434+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:09:27.041214+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:09:15.667243+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from Vici syndrome, MIM# 242840 to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:08:56.863228+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:08:11.552623+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to ",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:07:29.683291+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:07:00.123198+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome, MIM# 242840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:06:15.433489+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPG5 as ready",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:06:15.424414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epg5 has been classified as Green List (High Evidence).",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:06:08.261919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EPG5 were changed from to Vici syndrome, MIM# 242840",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:04:59.695651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EPG5 were set to ",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:04:41.739872+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EPG5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T21:04:22.332621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EPG5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23222957, 26917586; Phenotypes: Vici syndrome, MIM# 242840, vacuolar myopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EPG5",
"entity_type": "gene"
},
{
"created": "2020-10-14T20:49:16.382536+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-10-14T20:49:16.372192+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Green List (High Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-10-14T20:49:07.716681+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4910",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome (MIM#161200); LMX1B-related nephropathy",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-10-14T20:48:48.250548+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4909",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMX1B were set to ",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-10-14T20:48:25.134621+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4908",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:45:42.142824+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:43:26.856007+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA4A as ready",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:43:26.844688+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:43:01.047867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4907",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA4A were changed from to Cone-rod dystrophy 10, 610283; Retinitis pigmentosa 35, 610282",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:42:42.781051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4906",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA4A were set to ",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:42:13.914195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4905",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEMA4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:41:55.923432+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA4A as Amber List (moderate evidence)",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:41:55.914850+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4904",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:41:39.458989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541, 28805479, 23360997, 15277503; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:35:32.694295+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA4A as ready",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:35:32.679651+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:35:27.699463+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA4A were set to 30679166",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:34:23.425723+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEMA4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:34:14.256770+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA4A as Amber List (moderate evidence)",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:34:14.245415+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:34:04.623669+11:00",
"panel_name": "Cone-rod Dystrophy",
"panel_id": 3147,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541, 28805479, 23360997, 15277503; Phenotypes: Cone-rod dystrophy 10, 610283, Retinitis pigmentosa 35, 610282; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:32:25.442836+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA4A as ready",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:32:25.431391+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:32:20.133487+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEMA4A was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:32:09.020355+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SEMA4A: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T18:00:34.639629+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Bi-allelic variants: two families with RP reported in PMID 16199541, none since.\r\n\r\nMono-allelic variants: p.Arg713Gln reported in 4 individuals in PMID 16199541, however note this variant is present in >10,000 heterozygotes in gnomad and 299 homozygotes and did not segregate with disease in PMID 28805479.; to: Bi-allelic variants: two individuals with RP, and two with cone-rod dystrophy reported in PMID 16199541, none since.\r\n\r\nMono-allelic variants: p.Arg713Gln reported in 4 individuals in PMID 16199541, however note this variant is present in >10,000 heterozygotes in gnomad and 299 homozygotes and did not segregate with disease in PMID 28805479.",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T17:59:22.899913+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA4A were set to ",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T17:59:03.120950+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEMA4A as Amber List (moderate evidence)",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T17:59:03.108312+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema4a has been classified as Amber List (Moderate Evidence).",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T17:58:51.220616+11:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEMA4A: Rating: AMBER; Mode of pathogenicity: None; Publications: 16199541, 28805479, 23360997, 15277503; Phenotypes: Retinitis pigmentosa 35, MIM# 610282; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SEMA4A",
"entity_type": "gene"
},
{
"created": "2020-10-14T17:35:28.071335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4903",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27450397; Phenotypes: Nail-patella syndrome (MIM#161200), LMX1B-related nephropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-10-14T15:09:44.007053+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PHEX as ready",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-10-14T15:09:43.998682+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: phex has been classified as Green List (High Evidence).",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-10-14T15:06:43.331998+11:00",
"panel_name": "Hypophosphataemic Rickets",
"panel_id": 122,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: PHEX.",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:46:13.557414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JPH2 as ready",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:46:13.549018+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:46:05.218439+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4903",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873; dilated cardiomyopathy",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:45:44.277460+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4902",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JPH2 were set to ",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:45:20.597583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4901",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: JPH2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:45:02.729176+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH2 as Amber List (moderate evidence)",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:45:02.712541+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4900",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:44:45.628403+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249, 31227780; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873, dilated cardiomyopathy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:41:40.385480+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JPH2 as ready",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:41:40.377329+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:41:38.046474+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH2 were changed from to Cardiomyopathy, hypertrophic, MIM#613873",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:41:28.631108+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: JPH2 were set to ",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:41:17.577179+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH2 as Amber List (moderate evidence)",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:41:17.566146+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T14:41:08.745285+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JPH2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30681346, 17509612, 23973696, 26869393, 28393127, 30235249; Phenotypes: Cardiomyopathy, hypertrophic, MIM#613873; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-10-14T11:07:00.915507+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RIMS2 as ready",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-10-14T11:07:00.903647+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-10-14T11:06:00.912814+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RIMS2 as Green List (high evidence)",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-10-14T11:06:00.901982+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rims2 has been classified as Green List (High Evidence).",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-10-14T11:05:46.991253+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RIMS2 was added\ngene: RIMS2 was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: RIMS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RIMS2 were set to 32470375\nPhenotypes for gene: RIMS2 were set to Cone-rod synaptic disorder syndrome, congenital nonprogressive, MIM# 618970\nReview for gene: RIMS2 was set to GREEN\nAdded comment: Biallelic LoF variants reported with syndromic congenital cone-rod synaptic disease in 7 individuals from 4 families. Several individuals had autism. One had night blindness. \nSources: Expert Review",
"entity_name": "RIMS2",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:57:36.456184+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: RGR.",
"entity_name": "RGR",
"entity_type": "gene"
},
{
"created": "2020-10-14T10:57:26.093137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.4899",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RGR as ready",
"entity_name": "RGR",
"entity_type": "gene"
}
]
}