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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=845",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=843",
"results": [
{
"created": "2022-05-12T09:54:07.091198+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM28 as Amber List (moderate evidence)",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:54:07.072408+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:53:56.009843+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RBM28: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439547, 33941690; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:53:18.520608+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM28 were set to 18439547",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:52:43.529875+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RBM28 as ready",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:52:43.518644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:52:34.868592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RBM28 were changed from to Alopecia, neurologic defects, and endocrinopathy syndrome (MIM#612079)",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:52:10.545927+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RBM28 were set to ",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:51:56.748240+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM28 as Amber List (moderate evidence)",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:51:56.736203+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:51:23.367008+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: RBM28: Added comment: PMID 33941690: second family reported, yeast functional studies.; Changed rating: AMBER; Changed publications: 18439547, 33941690",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:50:57.857828+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RBM28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:50:23.285175+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RBM28 as Amber List (moderate evidence)",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:50:23.274043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rbm28 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:48:26.363518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RASGRP2 as ready",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:48:26.354425+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rasgrp2 has been classified as Green List (High Evidence).",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:48:17.720792+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RASGRP2 were changed from to Bleeding disorder, platelet-type, 18 (MIM#615888)",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:47:54.425847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RASGRP2 were set to ",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-05-12T09:47:33.544146+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RASGRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-05-12T08:17:43.478287+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14135",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RBM28: Rating: AMBER; Mode of pathogenicity: None; Publications: 18439547, 33941690, 27077951; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome (MIM#612079); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2022-05-12T07:58:02.712519+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14135",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RASGRP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28762304, 27663674, 28637664, 27235135; Phenotypes: Bleeding disorder, platelet-type, 18 (MIM#615888); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:15:59.365248+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:15:59.354024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:15:44.469086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN2A were set to ",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:15:23.534162+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia.; to: Classically presents with seizures and DD/ID although a range of other manifestations reported, including movement abnormalities, including ataxia. Rather than being discrete disorders, these probably represent a continuum of manifestations of a single brain channelopathy disorder.\r\n\r\nMultiple families reported.",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:14:43.353598+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN2A: Changed publications: 19786696, 23662938, 15028761, 30185235, 20956790, 24650168, 23935176, 22495306",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:13:49.739789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN2A were changed from to Episodic ataxia, type 9, MIM# 618924; Seizures, benign familial infantile, 3, MIM# 607745; Developmental and epileptic encephalopathy 11, MIM# 613721",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:13:28.979528+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:13:07.657816+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN2A: Changed phenotypes: Episodic ataxia, type 9, MIM# 618924, Seizures, benign familial infantile, 3, MIM# 607745, Developmental and epileptic encephalopathy 11, MIM# 613721",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:12:17.708029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:11:34.105025+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN9A as ready",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:11:34.094863+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn9a has been classified as Green List (High Evidence).",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:11:24.378550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCN9A were changed from to Erythermalgia, primary, MIM# 133020; Insensitivity to pain, congenital, MIM# 243000; Neuropathy, hereditary sensory and autonomic, type IID, MIM# 243000; Paroxysmal extreme pain disorder, MIM# 167400; Small fiber neuropathy,MIM# 133020",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:11:02.897110+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCN9A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCN9A",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:04:24.868173+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A5 as ready",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:04:24.853004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:04:15.807518+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC22A5 were changed from to Carnitine deficiency, systemic primary, MIM# 212140, MONDO:0008919",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:03:54.125814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC22A5 were set to ",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:03:33.526439+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC22A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:02:36.077067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC22A12 as ready",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:02:36.064093+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc22a12 has been classified as Green List (High Evidence).",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2022-05-11T19:02:25.553257+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC22A12 were changed from to Hypouricemia, renal, MIM# 220150, MONDO:0020728",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:59:02.788966+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC22A12 were set to ",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:58:41.719555+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC22A12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:57:40.151934+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A2 as ready",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:57:40.136720+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:57:33.401580+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A2 were set to 27476654; 28777935; 30937933; 23934111",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:56:53.446628+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A2 were changed from Developmental and epileptic encephalopathy 41, MIM# 617105 to Developmental and epileptic encephalopathy 41, MIM# 617105",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:53:17.459782+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A2 were changed from to Developmental and epileptic encephalopathy 41, MIM# 617105",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:52:39.450233+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A2 were set to ",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:51:59.539998+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SLC1A2 was changed from to Other",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:51:16.500890+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:50:35.907775+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476654, 28777935, 30937933, 23934111; Phenotypes: Developmental and epileptic encephalopathy 41, MIM# 617105; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:49:35.936087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A2 as ready",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:49:35.925489+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a2 has been classified as Green List (High Evidence).",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:49:25.864586+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A2 were changed from to Developmental and epileptic encephalopathy 41, MIM# 617105",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:49:05.463226+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A2 were set to ",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:48:45.704824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: SLC1A2 was changed from to Other",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:48:27.121309+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:48:07.855968+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 27476654, 28777935, 30937933, 23934111; Phenotypes: Developmental and epileptic encephalopathy 41, MIM# 617105; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:43:20.219499+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A1 as ready",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:43:20.208908+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:43:15.115481+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A1 as Amber List (moderate evidence)",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:43:15.105263+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:42:58.566392+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A1 was added\ngene: SLC1A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: SLC1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC1A1 were set to 21123949\nPhenotypes for gene: SLC1A1 were set to Dicarboxylic aminoaciduria, MIM#222730\nReview for gene: SLC1A1 was set to AMBER\nAdded comment: Only two families reported and mouse KO. Rated as LIMITED by ClinGen. \nSources: Expert Review",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:41:30.613194+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is part of the phenotype of this metabolic disorder.; to: ID is part of the phenotype of this metabolic disorder. However, only two families reported and rated as LIMITED by ClinGen.",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:41:11.499828+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC1A1: Changed rating: AMBER; Changed publications: 21123949",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:40:49.184188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC1A1 as ready",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:40:49.172843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:40:40.201178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC1A1 were changed from to Dicarboxylic aminoaciduria, MIM# 222730",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:40:18.398818+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC1A1 were set to ",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:39:56.702419+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC1A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:39:15.953843+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC1A1 as Amber List (moderate evidence)",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:39:15.942962+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc1a1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:38:51.397394+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC1A1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21123949; Phenotypes: Dicarboxylic aminoaciduria, MIM# 222730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC1A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:33:45.082009+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:33:45.009229+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:33:36.374525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:33:15.075534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A3 were set to ",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:32:54.601559+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC19A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:32:33.630188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC19A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15871139, 20065143, 23482991, 24878502, 23589815, 24166474, 26975589, 27896110; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), MIM# 607483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:24:40.224525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A8 as ready",
"entity_name": "SLC17A8",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:24:40.211724+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a8 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A8",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:24:31.459354+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A8 were changed from to Deafness, autosomal dominant 25, MIM# 605583",
"entity_name": "SLC17A8",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:24:10.611196+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC17A8 were set to ",
"entity_name": "SLC17A8",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:23:46.603996+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC17A8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC17A8",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:23:27.402031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC17A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 18674745, 26797701, 28647561; Phenotypes: Deafness, autosomal dominant 25, MIM# 605583; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC17A8",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:20:59.457507+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A3 as ready",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:20:59.446029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:20:44.215100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A3 were changed from to [Uric acid concentration, serum, QTL4], MIM# 612671, {Gout susceptibility 4}, MIM#612671",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:20:23.564280+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC17A3 were set to ",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:20:01.449384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC17A3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:19:42.415424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC17A3 as Red List (low evidence)",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:19:42.404264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC17A3",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:18:51.037955+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A1 as ready",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:18:51.024096+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:18:43.147158+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC16A1 as Green List (high evidence)",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:18:43.136097+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc16a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:18:25.312275+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC16A1 was added\ngene: SLC16A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: SLC16A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC16A1 were set to 25390740\nPhenotypes for gene: SLC16A1 were set to Monocarboxylate transporter 1 deficiency, MIM#\t616095\nReview for gene: SLC16A1 was set to GREEN\nAdded comment: 3 individuals with bi-allelic and 5 with mono-allelic variants reported. Individuals with bi-allelic variants had more severe presentation, including mild ID but unclear if this is primary or secondary to episodes of ketoacidosis.\r\n\r\nAll patients presented with bouts of ketoacidosis provoked by fasting or infections in the first years of life. Ketoacidotic episodes were preceded by poor feeding and vomiting and were associated with dehydration, which was a consequence of osmotic diuresis and vomiting. In all patients, treatment with intravenous glucose or dextrose, combined with bicarbonate, led to rapid clearance of metabolic acidosis. Early initiation of treatment appeared to prevent ketoacidosis, and ensuring adequate caloric intake reduced the number of episodes. The frequency of ketoacidotic episodes appeared to decrease over time, and none of the patients had documented ketoacidosis after 7 years of age, although some patients had marked ketonuria associated with mild infections. \nSources: Expert Review",
"entity_name": "SLC16A1",
"entity_type": "gene"
},
{
"created": "2022-05-11T18:09:57.424646+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC16A1 as ready",
"entity_name": "SLC16A1",
"entity_type": "gene"
}
]
}