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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=360",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=358",
"results": [
{
"created": "2024-10-25T09:34:04.165902+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.286",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "Gene: rreb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-10-25T09:33:21.388145+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.285",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: RREB1 was added\ngene: RREB1 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: RREB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RREB1 were set to PMID: 32938917; 38332451\nPhenotypes for gene: RREB1 were set to Rasopathy, MONDO:0021060, RREB1-related\nReview for gene: RREB1 was set to AMBER\nAdded comment: PMID 38332451: de novo LoF variant in an individual with Noonan syndrome-like features. No prenatal phenotype reported in this individual, however, prenatal phenotype has been reported with other RASopathies. \nSources: Literature",
"entity_name": "RREB1",
"entity_type": "gene"
},
{
"created": "2024-10-25T09:05:42.292192+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC17A5 were changed from to Sialic acid storage disorder, infantile, MIM# 269920",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2024-10-25T09:03:50.605536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC17A5 were set to ",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2024-10-25T09:03:11.564336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6586",
"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": "2024-10-25T09:00:51.129755+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC17A5: Changed publications: 10581036, 10947946",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2024-10-25T09:00:07.406733+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: SLC17A5: Sialic acid storage diseases are autosomal recessive neurodegenerative disorders that may present as a severe infantile form, including DD/IDD or a slowly progressive adult form, which is prevalent in Finland and referred to as Salla disease. p.Arg39Cys is a founder Finnish variant. Multiple families reported.",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:59:14.420632+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC17A5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sialic acid storage disorder, infantile, MIM# 269920; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:57:55.453515+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A6 as ready",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:57:55.439536+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:57:50.321053+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from to Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:57:09.758077+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A6 were set to ",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:56:34.552642+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A6 as ready",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:56:34.543578+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a6 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:53:00.518235+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF808 were changed from non-syndromic neonatal diabetes; MONDO:0016391 to Pancreatic agenesis 3, MIM# 620991",
"entity_name": "ZNF808",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:45:13.818960+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 3, MIM# 620991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF808",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:44:45.960084+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2071",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZNF808 were changed from non-syndromic neonatal diabetes; MONDO:0016391 to Pancreatic agenesis 3, MIM# 620991",
"entity_name": "ZNF808",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:44:18.217647+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZNF808: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 3, MIM# 620991; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZNF808",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:43:42.130571+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A6 were changed from to Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:43:07.097839+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.534",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A6 were set to ",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:42:33.604251+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.533",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:42:01.692721+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A6 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:41:57.260662+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.532",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:41:26.188067+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:40:45.041950+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC12A6: Rating: GREEN; Mode of pathogenicity: None; Publications: 31439721, 27485015, 16606917, 21628467, 12368912, 17893295; Phenotypes: Agenesis of the corpus callosum with peripheral neuropathy, MIM# 218000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2024-10-25T08:34:29.593489+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHRSX were changed from congenital disorder of glycosylation, MONDO:0015286, DHRSX-related to congenital disorder of glycosylation, MONDO:0015286, DHRSX-related",
"entity_name": "DHRSX",
"entity_type": "gene"
},
{
"created": "2024-10-24T23:45:41.735305+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-10-24T23:42:33.719971+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-10-24T23:39:50.703168+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: DMD: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301298 16770791; Phenotypes: Becker muscular dystrophy MIM#300376, Duchenne muscular dystrophy MIM#310200, Cardiomyopathy, dilated, 3B MIM#302045; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DMD",
"entity_type": "gene"
},
{
"created": "2024-10-24T23:16:27.081814+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: DDR2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19110212 20223752 8434618 20223752 8465857; Phenotypes: Spondylometaepiphyseal dysplasia, short limb-hand type MIM#271665; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DDR2",
"entity_type": "gene"
},
{
"created": "2024-10-24T23:10:10.949917+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CTSA: Rating: GREEN; Mode of pathogenicity: None; Publications: 8968752 18391110 7759227 6812049 28603679 8838767 19466716 16674934 23915561 26036949 24769197 28555253 15110321 27243974; Phenotypes: Galactosialidosis MIM#256540; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2024-10-24T22:57:12.594603+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: CTNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 26523297 20301574 25165189 9537412 10625078 30554218 12370309; Phenotypes: Cystinosis, nephropathic MIM#219800, Cystinosis, late-onset juvenile or adolescent nephropathic MIM#219900, Cystinosis, atypical nephropathic MIM#219800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:55:22.487964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: INPP5E as ready",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:55:22.474863+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: inpp5e has been classified as Green List (High Evidence).",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:55:18.636900+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.486",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: INPP5E were changed from Joubert syndrome 1, 213300 (3) to Joubert syndrome 1, MIM# 213300; MONDO:0008944; Mental retardation, truncal obesity, retinal dystrophy, and micropenis, MIM# 610156; MONDO:0012423",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:55:06.831041+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.485",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: INPP5E were set to ",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:54:13.135519+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNJ10 as ready",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:54:13.122138+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnj10 has been classified as Green List (High Evidence).",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:54:07.795026+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.484",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNJ10 were changed from SESAME syndrome, 612780 (3) to SESAME syndrome, MIM# 612780; EAST syndrome, MONDO:0013005",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:53:54.421917+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.483",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KCNJ10 were set to ",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:53:12.339066+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RECQL4 as ready",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:53:12.330020+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: recql4 has been classified as Green List (High Evidence).",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:53:07.652528+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RECQL4 were changed from Baller-Gerold syndrome, 218600 (3) to Baller-Gerold syndrome, MIM# 218600; RAPADILINO syndrome, MIM# 266280; Rothmund-Thomson syndrome, type 2,MIM# 268400",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:52:54.656201+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RECQL4 were set to ",
"entity_name": "RECQL4",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:52:17.396553+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KPTN as ready",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:52:17.370696+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kptn has been classified as Green List (High Evidence).",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:52:13.420982+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KPTN were changed from Mental retardation, autosomal recessive 41, 615637 (3) to Intellectual developmental disorder, autosomal recessive 41 (MIM#615637)",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:52:00.498624+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KPTN were set to ",
"entity_name": "KPTN",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:51:02.876917+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT10 as ready",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:51:02.856556+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt10 has been classified as Green List (High Evidence).",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:50:59.215483+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT10 were changed from Epidermolytic hyperkeratosis, 113800 (3), Autosomal recessive to Epidermolytic hyperkeratosis 2B, autosomal recessive MIM#620707; MONDO:0700245",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:50:43.608359+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT10 were set to ",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:49:37.613623+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KRT14 as ready",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:49:37.602659+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: krt14 has been classified as Green List (High Evidence).",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:49:30.600776+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KRT14 were changed from Epidermolysis bullosa simplex, recessive 1, 601001 (3) to Epidermolysis bullosa simplex 1D, generalized, intermediate or severe, autosomal recessive MIM# 601001; MONDO:0010976",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:49:18.086505+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: KRT14 were set to ",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:48:08.670564+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AJAP1 as ready",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:48:08.660436+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ajap1 has been classified as Green List (High Evidence).",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:48:04.037973+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AJAP1 as Green List (high evidence)",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:48:04.026060+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ajap1 has been classified as Green List (High Evidence).",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:47:27.999233+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AJAP1 as Green List (high evidence)",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:47:27.985633+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ajap1 has been classified as Green List (High Evidence).",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:44:36.449950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AJAP1 was added\ngene: AJAP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AJAP1 were set to 38985877\nPhenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092, AJAP1-related\nReview for gene: AJAP1 was set to GREEN\nAdded comment: PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available. \nSources: Literature",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:43:01.853328+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AJAP1 as ready",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:43:01.819178+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ajap1 has been classified as Green List (High Evidence).",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:42:55.339131+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AJAP1 as Green List (high evidence)",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:42:55.320578+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ajap1 has been classified as Green List (High Evidence).",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:42:18.151512+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AJAP1 was added\ngene: AJAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: AJAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AJAP1 were set to 38985877\nPhenotypes for gene: AJAP1 were set to neurodevelopmental disorder, MONDO:0700092, AJAP1-related\nReview for gene: AJAP1 was set to GREEN\nAdded comment: PMID:38985877 reported five unrelated individuals with monoallelic variants or a deletion in AJAP1 gene and they presented with epilepsy, neurodevelopmental problems, or intellectual disability. There is also supporting functional evidence available. \nSources: Literature",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:39:56.035860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AJAP1 as ready",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:39:56.020649+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ajap1 has been classified as Green List (High Evidence).",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:39:23.686392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AJAP1 as Green List (high evidence)",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:39:23.676418+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2070",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ajap1 has been classified as Green List (High Evidence).",
"entity_name": "AJAP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:38:11.474044+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA as ready",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:38:11.450352+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada has been classified as Green List (High Evidence).",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:38:07.161852+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA were changed from Adenosine deaminase deficiency, partial, 102700 (3) to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:37:47.313631+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA were set to ",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:37:05.470551+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTSL2 as ready",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:37:05.447865+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamtsl2 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2024-10-24T16:36:54.759144+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADAMTSL2 were set to ",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2024-10-24T14:00:09.675359+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIO as ready",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-10-24T14:00:09.606014+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trio has been classified as Red List (Low Evidence).",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-10-24T14:00:00.579797+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIO as Red List (low evidence)",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-10-24T14:00:00.499132+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.389",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trio has been classified as Red List (Low Evidence).",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:58:20.698450+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIO as Red List (low evidence)",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:58:20.639130+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.388",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trio has been classified as Red List (Low Evidence).",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:57:33.575276+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCK as ready",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:57:33.565752+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbck has been classified as Red List (Low Evidence).",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:56:31.981626+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBCK as Red List (low evidence)",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:56:31.963433+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.387",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbck has been classified as Red List (Low Evidence).",
"entity_name": "TBCK",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:55:49.052096+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBCD as ready",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:55:49.037105+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Red List (Low Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:55:41.057609+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TBCD as Red List (low evidence)",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:55:41.044678+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.386",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbcd has been classified as Red List (Low Evidence).",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:54:55.900814+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMG8 as ready",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:54:55.883290+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Red List (Low Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:54:07.535325+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMG8 as Red List (low evidence)",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:54:07.520198+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.385",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smg8 has been classified as Red List (Low Evidence).",
"entity_name": "SMG8",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:53:21.536735+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RTN4IP1 as ready",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:53:21.527372+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rtn4ip1 has been classified as Red List (Low Evidence).",
"entity_name": "RTN4IP1",
"entity_type": "gene"
},
{
"created": "2024-10-24T13:53:17.310617+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.384",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RTN4IP1 as Red List (low evidence)",
"entity_name": "RTN4IP1",
"entity_type": "gene"
}
]
}