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{
"count": 220324,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=909",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=907",
"results": [
{
"created": "2022-03-28T15:18:19.955657+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4623",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRXN1 were set to ",
"entity_name": "NRXN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:17:47.066864+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4622",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRXN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NRXN1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:16:15.368774+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEMD3 were changed from Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700 to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:16:14.887782+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LEMD3 as ready",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:16:14.876585+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lemd3 has been classified as Green List (High Evidence).",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:15:54.548308+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LEMD3 were changed from to Buschke-Ollendorff syndrome MIM#166700; Osteopoikilosis with or without melorheostosis MIM#166700",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:15:38.792350+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12126",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CALM2 were changed from to Long QT syndrome 15 MIM#616249; CPVT",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:15:28.732190+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12125",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CALM2 were set to ",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:15:00.275408+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12125",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:14:43.938135+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12124",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CALM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240; Phenotypes: Long QT syndrome 15 MIM#616249, CPVT; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:14:13.440417+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LEMD3 were set to ",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:13:19.429376+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LEMD3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:12:50.199043+11:00",
"panel_name": "Osteopetrosis",
"panel_id": 150,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LEMD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 34098227, 33598273, 32519343, 32151766, 32151766; Phenotypes: Buschke-Ollendorff syndrome MIM#166700, Osteopoikilosis with or without melorheostosis MIM#166700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LEMD3",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:12:22.800138+11:00",
"panel_name": "Catecholaminergic Polymorphic Ventricular Tachycardia",
"panel_id": 92,
"panel_version": "0.32",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CALM2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM2",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:10:46.364643+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12124",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CALM1 as ready",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:10:46.354769+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12124",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: calm1 has been classified as Green List (High Evidence).",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:09:14.745874+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC17A5 as ready",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:09:14.734198+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc17a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:08:59.637622+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A5 were changed from to Sialic acid storage disorder, infantile, MIM#\t269920",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:08:36.614479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12124",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CALM1 were changed from to Long QT syndrome 14 MIM#616247; Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:08:22.362864+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12123",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CALM1 were set to ",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:08:17.745236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12123",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CALM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:08:16.006189+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC17A5 were set to ",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:07:35.687608+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12122",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CALM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31170290; Phenotypes: Long QT syndrome 14 MIM#616247, Ventricular tachycardia, catecholaminergic polymorphic, 4 MIM#614916; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "CALM1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:06:55.343192+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC17A5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:06:10.647333+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NRL as ready",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:06:10.633819+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nrl has been classified as Green List (High Evidence).",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:06:02.103687+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NRL were changed from to Retinitis pigmentosa 27 - MIM#613750; Retinal degeneration, autosomal recessive, clumped pigment type",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:05:40.624989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NRL were set to ",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:05:20.433540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NRL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "NRL",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:59.165471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12119",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D4 were changed from Retinal cone dystrophy 4 MIM#610478 to Retinal cone dystrophy 4 MIM#610478",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:40.646390+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12118",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D4 were changed from to Retinal cone dystrophy 4 MIM#610478",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:33.552325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12118",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CACNA2D4 as ready",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:33.538449+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12118",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cacna2d4 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:32.557613+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LDLRAP1 as ready",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:32.547301+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldlrap1 has been classified as Green List (High Evidence).",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:30.538319+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:25.516874+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12118",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CACNA2D4 were set to ",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:24.377253+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12118",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA2D4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:22.407584+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDLRAP1 were changed from HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia to Hypercholesterolemia, familial, 4, MIM# 603813percholesterolemia",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:09.285242+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LDLRAP1 were changed from Hypercholesterolemia to HyHypercholesterolemia, familial, 4, MIM# 603813percholesterolemia",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:04:02.689325+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12117",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: CACNA2D4: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033974, 26560832, 26560832, 33927996, 34996991; Phenotypes: Retinal cone dystrophy 4 MIM#610478; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "CACNA2D4",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:03:59.298517+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDLRAP1 were set to ",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:03:47.308430+11:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:03:12.878697+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LDLRAP1 were set to ",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:02:41.458832+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LDLRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 4351242; Phenotypes: Hypercholesterolemia, familial, 4, MIM# 603813; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2022-03-28T15:00:34.053053+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: LDHB.",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:56:23.128874+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LDHB as Green List (high evidence)",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:56:23.119660+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ldhb has been classified as Green List (High Evidence).",
"entity_name": "LDHB",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:54:13.779859+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NR2F2 as ready",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:54:13.768860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nr2f2 has been classified as Green List (High Evidence).",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:54:03.311102+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NR2F2 were changed from to 46,XX sex reversal 5 - MIM#618901; Congenital heart defects, multiple types, 4 - MIM#615779",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:51:42.109903+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NR2F2 were set to ",
"entity_name": "NR2F2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:51:18.674557+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCP2 as ready",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:51:18.661298+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:51:15.254074+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:50:31.618809+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUFM as ready",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:50:31.609608+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tufm has been classified as Green List (High Evidence).",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:50:22.854360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERAC1 as ready",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:50:22.840752+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serac1 has been classified as Green List (High Evidence).",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:47:19.465649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERAC1 were changed from to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, MIM# 614739",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:46:23.635030+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.332",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CACNA2D2 as Green List (high evidence)",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:46:23.623288+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.332",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cacna2d2 has been classified as Green List (High Evidence).",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:46:01.021020+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.331",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CACNA2D2 was added\ngene: CACNA2D2 was added to Ataxia - paediatric. Sources: Literature\nMode of inheritance for gene: CACNA2D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629\nPhenotypes for gene: CACNA2D2 were set to Cerebellar atrophy with seizures and variable developmental delay MIM#618501\nReview for gene: CACNA2D2 was set to GREEN\ngene: CACNA2D2 was marked as current diagnostic\nAdded comment: 4 out of 6 families reported individuals <1 years old with ataxia \nSources: Literature",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:44:39.473479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERAC1 were set to ",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:42:40.895925+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCP2 were set to ",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:42:21.580992+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SERAC1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:41:52.165425+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCP2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:41:42.158620+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.751",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TUFM were changed from to Combined oxidative phosphorylation deficiency 4, OMIM #610678; MONDO:0012534",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:41:10.165501+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEMA3A as ready",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:41:10.155331+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sema3a has been classified as Green List (High Evidence).",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:40:45.613371+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SEMA3A were changed from to Hypogonadotropic hypogonadism 16 with or without anosmia - MIM#614897; congenital heart disease; short stature",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:39:44.049605+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SEMA3A were set to ",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:38:15.249646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SEMA3A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SEMA3A",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:37:14.079115+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:36:25.494168+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCP2 as ready",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:36:25.482938+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scp2 has been classified as Red List (Low Evidence).",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:36:20.292213+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCP2 were set to ",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:35:58.996675+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCP2 as Red List (low evidence)",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:35:58.983852+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scp2 has been classified as Red List (Low Evidence).",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:35:44.319983+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: RED; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: None",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:35:40.832742+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.750",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TUFM were set to ",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:35:28.163078+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCP2 as Amber List (moderate evidence)",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:35:28.149374+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:32:55.660130+11:00",
"panel_name": "Peroxisomal Disorders",
"panel_id": 155,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:32:08.821201+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCARB2 as ready",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:32:08.809335+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scarb2 has been classified as Green List (High Evidence).",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:31:52.600235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCP2 as ready",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:31:52.590484+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:31:40.572306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCP2 were set to 16685654",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:31:16.371775+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCP2 as Amber List (moderate evidence)",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:31:16.360364+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scp2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:30:57.846001+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: 26497993; Phenotypes: Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:28:53.436941+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12107",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:28:17.295922+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCARB2 were changed from Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900 to Progressive Myoclonus Epilepsy, MONDO:0020074; Epilepsy, progressive myoclonic 4, with or without renal failure, MIM #254900",
"entity_name": "SCARB2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:28:03.143887+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SCP2 were changed from to Leukoencephalopathy with dystonia and motor neuropathy, MIM#613724",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:27:55.792488+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12105",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D2 were changed from Cerebellar atrophy with seizures and variable developmental delay MIM#618501 to Cerebellar atrophy with seizures and variable developmental delay MIM#618501",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:27:29.688478+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12105",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: CACNA2D2 were set to 23339110; 24358150; 30410802; 29997391; 31402629; 11487633; 11756448; 4177347; 14660671; 15331424",
"entity_name": "CACNA2D2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:27:14.877306+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCP2 were set to ",
"entity_name": "SCP2",
"entity_type": "gene"
},
{
"created": "2022-03-28T14:27:11.488277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12104",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA2D2 were changed from to Cerebellar atrophy with seizures and variable developmental delay MIM#618501",
"entity_name": "CACNA2D2",
"entity_type": "gene"
}
]
}