HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220249,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=888",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=886",
"results": [
{
"created": "2022-04-09T16:59:21.407690+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMT5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:58:56.480610+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRMT5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26189817, 35342985, 35109800, 29021354; Phenotypes: Combined oxidative phosphorylation deficiency 26, MIM# 616539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT5",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:33:30.984711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12795",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EYS: Rating: GREEN; Mode of pathogenicity: None; Publications: 18836446, 18976725, 34689181; Phenotypes: retinitis pigmentosa 25 MONDO:0011272; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "EYS",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:26:09.245780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12795",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: EXT1 were set to ",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:21:40.338453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12794",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: EXT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:08:29.332312+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ETV1 as ready",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:08:29.320705+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etv1 has been classified as Red List (Low Evidence).",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T16:07:22.765100+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: EXT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 7550340, 8981950, 20534475; Phenotypes: hereditary multiple osteochondromas MONDO:0005508, exostoses, multiple, type 1 MONDO:0007585; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "EXT1",
"entity_type": "gene"
},
{
"created": "2022-04-09T15:58:43.161172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12793",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ETV1 were set to ",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:36:46.982664+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12792",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EXOC7 were changed from brain atrophy; seizures; developmental delay; microcephaly to Neurodevelopmental disorder with seizures and brain atrophy MIM#619072; brain atrophy; seizures; developmental delay; microcephaly",
"entity_name": "EXOC7",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:36:33.257617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12791",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ETV1 as Red List (low evidence)",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:36:33.247105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12791",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etv1 has been classified as Red List (Low Evidence).",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:35:09.292241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12790",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: EXOC3L2 were changed from Dandy-Walker malformation; renal dysplasia; bone marrow failure to Dandy-Walker malformation, MONDO:0009072; renal dysplasia; bone marrow failure",
"entity_name": "EXOC3L2",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:31:42.024052+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12789",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ETV1: Rating: RED; Mode of pathogenicity: None; Publications: 16254181, 34430591; Phenotypes: ; Mode of inheritance: Unknown",
"entity_name": "ETV1",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:24:56.624687+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12789",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ETFDH as ready",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:24:56.616163+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12789",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: etfdh has been classified as Green List (High Evidence).",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:18:47.757600+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12789",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ETFDH were changed from to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-09T13:12:35.238458+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12788",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ETFDH were set to ",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2022-04-08T21:51:35.922121+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12787",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SET: Rating: GREEN; Mode of pathogenicity: None; Publications: 29688601, 29907757, 25356899; Phenotypes: Intellectual developmental disorder, autosomal dominant 58, MIM#618106, intellectual disability, autosomal dominant 58, MONDO:0020847; Mode of inheritance: None",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2022-04-08T20:35:31.937043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12787",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERPING1: Rating: GREEN; Mode of pathogenicity: None; Publications: 35386643, 31517426, 29753808; Phenotypes: Angioedema, hereditary, 1 and 2, MIM#106100, Complement component 4, partial deficiency of, MIM#120790; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SERPING1",
"entity_type": "gene"
},
{
"created": "2022-04-08T20:19:17.287337+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12787",
"user_name": "Samantha Ayres",
"item_type": "entity",
"text": "reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 2863444, 8902986, 2647747, 15337701, 31064749, 11204559, 8562924, 29296762; Phenotypes: heparin cofactor 2 deficiency, MONDO:0012876, Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:33:35.392625+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBXO28 as ready",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:33:35.382512+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:33:33.003114+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBXO28 were changed from infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy to Developmental and epileptic encephalopathy 100, MIM# 619777",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:33:08.139148+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FBXO28 as Green List (high evidence)",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:33:08.129564+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbxo28 has been classified as Green List (High Evidence).",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:32:51.673263+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBXO28: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 100, MIM# 619777; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:30:56.330120+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TNPO2 as ready",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:30:56.320575+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnpo2 has been classified as Green List (High Evidence).",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:30:44.823187+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TNPO2 were changed from global developmental delay; dysmorphic features; ophthalmologic abnormalities; intellectual disability; fever induced seizures; epilepsy, dystonia; cerebellar dysplasia; cerebllar dysplasia; microcephaly to Intellectual developmental disorder with hypotonia, impaired speech, and dysmorphic facies, MIM#\t619556",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:30:27.151789+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TNPO2 as Green List (high evidence)",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-04-08T19:30:27.139883+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.209",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tnpo2 has been classified as Green List (High Evidence).",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-04-08T12:31:05.397281+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1546",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: NOVA2 was added\ngene: NOVA2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: NOVA2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOVA2 were set to 32197073\nPhenotypes for gene: NOVA2 were set to intellectual disability (ID), motor and speech delay; autistic features; hypotonia; feeding difficulties; spasticity; ataxia; epilepsy\nPenetrance for gene: NOVA2 were set to unknown\nReview for gene: NOVA2 was set to GREEN\nAdded comment: Sources: Literature",
"entity_name": "NOVA2",
"entity_type": "gene"
},
{
"created": "2022-04-08T11:41:19.861613+10:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.13",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: FBXO28 was added\ngene: FBXO28 was added to Progressive Myoclonic Epilepsy. Sources: Literature\nMode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXO28 were set to 33280099\nPhenotypes for gene: FBXO28 were set to Infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy\nPenetrance for gene: FBXO28 were set to unknown\nReview for gene: FBXO28 was set to GREEN\ngene: FBXO28 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T11:40:10.855916+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.208",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: FBXO28 was added\ngene: FBXO28 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: FBXO28 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FBXO28 were set to 33280099\nPhenotypes for gene: FBXO28 were set to infantile spasms; developmental epileptic encephalopathy; microcephaly; hypotonia; dystonia; intellectual disability; progressive myoclonic epilepsy\nPenetrance for gene: FBXO28 were set to unknown\nReview for gene: FBXO28 was set to GREEN\ngene: FBXO28 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "FBXO28",
"entity_type": "gene"
},
{
"created": "2022-04-08T11:33:46.602902+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.208",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "edited their review of gene: TNPO2: Set current diagnostic: yes",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-04-08T11:33:36.047388+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.208",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: TNPO2 was added\ngene: TNPO2 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: TNPO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNPO2 were set to 34314705\nPhenotypes for gene: TNPO2 were set to global developmental delay; dysmorphic features; ophthalmologic abnormalities; intellectual disability; fever induced seizures; epilepsy, dystonia; cerebellar dysplasia; cerebllar dysplasia; microcephaly\nPenetrance for gene: TNPO2 were set to unknown\nReview for gene: TNPO2 was set to GREEN\nAdded comment: The movement disorder noted is a complex dystonia, with hyperkinetic components and some patients have episodic exacerbations \nSources: Literature",
"entity_name": "TNPO2",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:58:06.271745+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:57:27.433106+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:56:23.074701+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMT10C as ready",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:56:23.065042+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmt10c has been classified as Green List (High Evidence).",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:56:14.352977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMT10C were changed from to Combined oxidative phosphorylation deficiency 30, MIM# 616974",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:55:36.931188+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRMT10C were set to ",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:55:16.299901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMT10C was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:54:56.882435+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRMT10C: Rating: GREEN; Mode of pathogenicity: None; Publications: 27132592, 33886802; Phenotypes: Combined oxidative phosphorylation deficiency 30, MIM# 616974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMT10C",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:06:06.021021+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHA2 as ready",
"entity_name": "PDHA2",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:06:06.011044+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha2 has been classified as Red List (Low Evidence).",
"entity_name": "PDHA2",
"entity_type": "gene"
},
{
"created": "2022-04-08T10:05:55.757296+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDHA2 was added\ngene: PDHA2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PDHA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDHA2 were set to 29581481; 35172124\nPhenotypes for gene: PDHA2 were set to Spermatogenic failure-70, MIM#619828\nReview for gene: PDHA2 was set to RED\nAdded comment: Three individuals reported from different families with same homozygous missense variant. Same ethnic background, likely founder effect. \nSources: Literature",
"entity_name": "PDHA2",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:57:16.078824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRDN as ready",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:57:16.068094+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trdn has been classified as Green List (High Evidence).",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:57:04.168675+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12783",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRDN were changed from to Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:56:36.443367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12782",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRDN were set to ",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:56:14.870718+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRDN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:55:48.985090+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240, 25922419, 30649896, 22422768; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness, MIM# 615441; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:52:41.966615+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRHR as ready",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:52:41.954028+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trhr has been classified as Green List (High Evidence).",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:52:38.947540+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRHR were changed from mild-moderate isolated central hypothyroidism; absent TSH and prolactin response to TRH; Thyrotropin-releasing hormone resistance, generalized to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:52:12.675981+10:00",
"panel_name": "Congenital hypothyroidism",
"panel_id": 3471,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:51:41.491708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRHR as ready",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:51:41.482560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trhr has been classified as Green List (High Evidence).",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:51:33.249591+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRHR were changed from to Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:51:13.649553+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRHR were set to ",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:50:51.669378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRHR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:50:31.879430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRHR: Rating: GREEN; Mode of pathogenicity: None; Publications: 9141550, 19213692, 26735259, 28419241, 32319661; Phenotypes: Hypothyroidism, congenital, nongoitrous, 7, MIM# 618573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRHR",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:44:05.935803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM37 as ready",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:44:05.926087+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim37 has been classified as Green List (High Evidence).",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:43:57.365923+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM37 were changed from to Mulibrey nanism, MIM# 253250",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:43:33.113326+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM37 were set to ",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:43:07.748172+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIM37 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-04-07T20:42:48.598378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM37: Rating: GREEN; Mode of pathogenicity: None; Publications: 10888877, 12754710, 15108285, 14757854, 27044324; Phenotypes: Mulibrey nanism, MIM# 253250; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:43:40.414733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM32 as ready",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:43:40.405165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim32 has been classified as Green List (High Evidence).",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:43:30.352514+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRIM32 were changed from to Bardet-Biedl syndrome 11, MIM# 615988; Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:32:43.901331+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRIM32 were set to ",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:31:15.369254+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRIM32 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:30:54.732997+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported in 2006.; to: BBS: Single family reported in 2006. LIMITED.",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:30:40.412464+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TRIM32: Added comment: >3 unrelated cases with myopathy, adult onset reported; Changed rating: GREEN; Changed publications: 16606853, 31309175, 11822024; Changed phenotypes: Bardet-Biedl syndrome 11, MIM# 615988, Muscular dystrophy, limb-girdle, autosomal recessive 8 MIM#254110",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:28:47.252715+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM4 as ready",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:28:47.242995+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Red List (Low Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:28:39.765741+10:00",
"panel_name": "Palmoplantar Keratoderma and Erythrokeratoderma",
"panel_id": 153,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM4 was added\ngene: TRPM4 was added to Palmoplantar Keratoderma and Erythrokeratoderma. Sources: Expert Review\nMode of inheritance for gene: TRPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRPM4 were set to 30528822\nPhenotypes for gene: TRPM4 were set to Erythrokeratodermia variabilis et progressiva 6, MIM# 618531\nReview for gene: TRPM4 was set to RED\nAdded comment: Two unrelated families reported with missense variants. \nSources: Expert Review",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:26:38.839384+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPM4 as ready",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:26:38.827824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:26:27.823873+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPM4 were changed from to Progressive familial heart block, type IB, MIM# 604559; Erythrokeratodermia variabilis et progressiva 6, MIM# 618531",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:26:01.245263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TRPM4 were set to ",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:25:41.797686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPM4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:25:22.312612+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRPM4 as Amber List (moderate evidence)",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:25:22.302252+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpm4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:25:04.030444+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRPM4: Rating: AMBER; Mode of pathogenicity: None; Publications: 19726882, 20562447, 21887725, 20562447, 35205305, 34897640, 30528822; Phenotypes: Progressive familial heart block, type IB, MIM# 604559, Erythrokeratodermia variabilis et progressiva 6 618531; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPM4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:15:25.744421+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRPV4 as ready",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:15:25.733947+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trpv4 has been classified as Green List (High Evidence).",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:15:17.529527+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRPV4 were changed from to Hereditary motor and sensory neuropathy, type IIc, MIM# 606071; Neuronopathy, distal hereditary motor, type VIII, MIM# 600175",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:14:57.175017+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRPV4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TRPV4",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:13:18.166408+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTPA as ready",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:13:18.154631+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttpa has been classified as Green List (High Evidence).",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:13:07.547785+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTPA were changed from to Ataxia with isolated vitamin E deficiency, MIM# 277460",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:12:43.103603+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTPA were set to ",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:12:23.727574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12763",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:11:33.091616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC19 as ready",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:11:33.070951+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc19 has been classified as Green List (High Evidence).",
"entity_name": "TTC19",
"entity_type": "gene"
},
{
"created": "2022-04-07T18:11:25.608038+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.12762",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC19 were changed from to Mitochondrial complex III deficiency, nuclear type 2, MIM#615157",
"entity_name": "TTC19",
"entity_type": "gene"
}
]
}