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{
"count": 220313,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=863",
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"results": [
{
"created": "2022-05-03T18:48:48.906701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A1 as ready",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:48:48.893106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:48:40.205440+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A1 were changed from to Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072; Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:48:17.019561+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC25A1 were set to ",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:47:56.225963+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:46:51.515001+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAS were changed from Noonan syndrome, MONDO:0018997 to Noonan syndrome, MONDO:0018997",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:46:25.919362+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAS were changed from to Noonan syndrome, MONDO:0018997",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:46:01.063001+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RRAS as ready",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:46:01.050126+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:45:43.664013+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRAS were set to ",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:45:14.281176+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:44:46.733107+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAS as Red List (low evidence)",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:44:46.723373+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras has been classified as Red List (Low Evidence).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:44:09.091046+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RRAS were changed from to Noonan syndrome, MONDO:0018997",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:43:52.190410+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RRAS were set to ",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:43:31.682562+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13625",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RRAS was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:43:12.750142+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RRAS as Amber List (moderate evidence)",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:43:12.738013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13624",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rras has been classified as Amber List (Moderate Evidence).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:42:48.055134+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RRAS: Rating: AMBER; Mode of pathogenicity: None; Publications: 24705357; Phenotypes: Noonan syndrome, MONDO:0018997; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:40:40.522634+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC11A1 as ready",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:40:40.485167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc11a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:40:31.919856+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC11A1 were changed from to {Buruli ulcer, susceptibility to}, MIM#610446; {Mycobacterium tuberculosis, susceptibility to infection by} , MIM#607948",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:40:03.200018+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC11A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:39:41.761167+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13621",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC11A1 were set to ",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:34:09.149759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC11A1 as Red List (low evidence)",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:34:09.135285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13620",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc11a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC11A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:33:07.997796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: LIPT2: Three individuals from two unrelated families, functional data.",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:32:45.686848+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIPT2: Changed publications: 28757203",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:32:28.514358+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPT2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, MIM# 617668; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPT2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:31:36.473665+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIL1 as ready",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:31:36.460422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sil1 has been classified as Green List (High Evidence).",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:31:21.957628+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13619",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIL1 were changed from to Marinesco-Sjogren syndrome, MIM#248800; MONDO#0009567",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:31:01.508627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13618",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIL1 were set to ",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:30:38.729002+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13617",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SIL1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:26:45.333567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIPC: Changed phenotypes: Hepatic lipase deficiency, MIM# 614025, Hyperlipidemia due to hepatic triglyceride lipase deficiency, MONDO:0013533",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:26:21.169774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIPC: Changed publications: 1671786, 12777476, 1883393, 23219720, 26423094, 22464213, 22798447",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:25:25.286690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LIPC: Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:24:41.837122+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIPC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hepatic lipase deficiency, MIM# 614025; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:23:02.473655+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIM2 as ready",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:23:02.459107+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lim2 has been classified as Green List (High Evidence).",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:22:59.605276+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIM2 were changed from to Cataract 19, multiple types, MIM# 615277",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:22:29.137168+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIM2 were set to ",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:22:00.270696+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIM2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:21:21.680806+10:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.330",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LIM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 7814360, 11917274, 18596884, 33708862, 32202185, 21617753; Phenotypes: Cataract 19, multiple types, MIM# 615277; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LIM2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:13:59.270518+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MCCC2 as ready",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:13:59.253665+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:13:54.100155+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4728",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MCCC2 were changed from to 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210)",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:13:22.249176+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4727",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MCCC2 were set to ",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:12:48.475153+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4726",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MCCC2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:12:14.043980+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MCCC2 as Amber List (moderate evidence)",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:12:14.027471+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4725",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mccc2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:11:50.661956+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RPE65: Rating: GREEN; Mode of pathogenicity: None; Publications: 14962443, 12960219, 11786058, 21654732, 27307694, 9501220, 16754667, 15557452; Phenotypes: Leber congenital amaurosis 2 MIM#204100, Retinitis pigmentosa 20 MIM#613794, Retinitis pigmentosa 87 with choroidal involvement MIM#618697; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:11:40.676027+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MCCC2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 2 deficiency (MIM#210210); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MCCC2",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:08:45.319514+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIK1 as ready",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:08:45.307252+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sik1 has been classified as Green List (High Evidence).",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:08:40.277287+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4724",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:08:04.382005+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4723",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIK1 were set to ",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:07:30.529442+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4722",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:06:55.130579+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4721",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25839329, 27966542, 35267137; Phenotypes: Developmental and epileptic encephalopathy 30, MIM#616341, developmental and epileptic encephalopathy, MONDO#0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:06:15.961293+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIK1 as ready",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:06:15.942491+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sik1 has been classified as Green List (High Evidence).",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:06:12.613428+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:05:35.810255+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIK1 were set to ",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:04:56.357032+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:04:18.217697+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25839329, 27966542, 35267137; Phenotypes: Developmental and epileptic encephalopathy 30, MIM#616341, developmental and epileptic encephalopathy, MONDO#0100062; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:03:48.324564+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: SLC24A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35486108, 35446361, 20850105, 26822852; Phenotypes: Night blindness, congenital stationary (complete), 1D, autosomal recessive, MIM#613830, MONDO:0013450; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC24A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:03:12.670287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIK1 as ready",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:03:12.655912+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sik1 has been classified as Green List (High Evidence).",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:03:04.228445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13616",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIK1 were changed from to Developmental and epileptic encephalopathy 30, MIM#616341; developmental and epileptic encephalopathy, MONDO#0100062",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:02:30.384983+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13615",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIK1 were set to ",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T18:02:08.931051+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13614",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:22:25.037315+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13613",
"user_name": "Manny Jacobs",
"item_type": "entity",
"text": "reviewed gene: SLC25A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26870663, 31527857, 31808147, 23561848, 23393310; Phenotypes: Combined D-2- and L-2-hydroxyglutaric aciduria MIM#: 615182, MONDO:0014072, Myasthenic syndrome, congenital, 23, presynaptic, MIM#618197, MONDO:0032596; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:16:59.334467+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.107",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RRAS: Rating: RED; Mode of pathogenicity: None; Publications: 24705357, 32815881; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:15:13.338220+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13613",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "edited their review of gene: RRAS: Changed rating: AMBER",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:09:28.509553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13613",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "changed review comment from: Catts et al (2021) identified a 7-year-old boy with a history of craniosynostosis, congenital heart defect, and mild dysmorphic features who was incidentally found to have pediatric MDS with monosomy 7 in the context of previously unrecognized germline RRAS mutation. A heterozygous c.116_118dup (NM_006270.5) variant resulting in p.G39dup was identified and excluded in an unaffected sibling, and both parents.\r\n\r\nTwo individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen (reviewed 27/04/2018).; to: Catts et al (2021) identified a 7-year-old boy with a history of craniosynostosis, congenital heart defect, and mild dysmorphic features who was incidentally found to have pediatric MDS with monosomy 7 in the context of previously unrecognized germline RRAS mutation. A heterozygous c.116_118dup (NM_006270.5) variant resulting in p.G39dup was identified and excluded in an unaffected sibling, and both parents.\r\n\r\nTwo individuals reported. One de novo variant, the inheritance of the other variant uncertain. Some supportive functional data. Rated as LIMITED by ClinGen (reviewed 27/04/2018).",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:08:17.626662+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13613",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: RRAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24705357, 32815881; Phenotypes: Noonan syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RRAS",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:03:39.885920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIBCH as ready",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:03:39.873940+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hibch has been classified as Green List (High Evidence).",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:03:31.215311+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13613",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIBCH were changed from to 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:03:11.104976+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13612",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIBCH were set to ",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:02:50.697341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13611",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIBCH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-05-03T17:02:17.887550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HIBCH: Rating: GREEN; Mode of pathogenicity: None; Publications: 26026795, 25251209, 24299452, 32677093; Phenotypes: 3-hydroxyisobutryl-CoA hydrolase deficiency, MIM# 250620; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:50:41.570798+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGF as ready",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:50:41.559259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgf has been classified as Green List (High Evidence).",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:50:32.441520+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13610",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGF were changed from to Deafness, autosomal recessive 39, MIM# 608265",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:48:19.473435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13609",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGF were set to ",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:44:11.370892+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGF was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:41:25.429187+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: HGF.\nTag founder tag was added to gene: HGF.",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:41:09.877240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HGF: Rating: GREEN; Mode of pathogenicity: None; Publications: 19576567; Phenotypes: Deafness, autosomal recessive 39, MIM# 608265; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:40:50.569496+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HGF: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGF",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:38:57.850674+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGD as ready",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:38:57.836709+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgd has been classified as Green List (High Evidence).",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:38:47.973518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13607",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGD were changed from to Alkaptonuria MIM#203500; Disorders of phenylalanine or tyrosine metabolism",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:38:25.658834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13606",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGD were set to ",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:38:03.640669+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13605",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HGD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HGD",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:36:18.881648+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFE as ready",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:36:18.868106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfe has been classified as Green List (High Evidence).",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:36:08.246089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:35:42.479367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2022-05-03T16:35:17.634069+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HFE",
"entity_type": "gene"
}
]
}