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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=405",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=403",
"results": [
{
"created": "2024-08-20T11:44:09.992157+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TNNC1 as Green List (high evidence)",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2024-08-20T11:44:09.986813+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Classified as Definitive by ClinGen Hereditary Cardiovascular Disease GCEP - 13/09/2023",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2024-08-20T11:44:09.937502+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: tnnc1 has been classified as Green List (High Evidence).",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2024-08-20T11:27:24.294331+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MPDZ as ready",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-08-20T11:27:24.274676+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-08-20T11:27:19.814493+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MPDZ as Amber List (moderate evidence)",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-08-20T11:27:19.798920+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.213",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mpdz has been classified as Amber List (Moderate Evidence).",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-08-20T11:27:09.492704+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.212",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPDZ was added\ngene: MPDZ was added to Syndromic Retinopathy. Sources: Literature\nMode of inheritance for gene: MPDZ was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPDZ were set to 36594712; 22159006; 21862650\nPhenotypes for gene: MPDZ were set to hydrocephalus, congenital, 2, with or without brain or eye anomalies MIM:615219\nReview for gene: MPDZ was set to AMBER\ngene: MPDZ was marked as current diagnostic\nAdded comment: 2 reported siblings with syndromic maculopathy and 1 unpublished case with syndromic macular dystrophy (RMH). Multiple animal models with retinal degeneration consistent with RP/LCA. \nSources: Literature",
"entity_name": "MPDZ",
"entity_type": "gene"
},
{
"created": "2024-08-20T10:29:59.811313+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PPARG as Green List (high evidence)",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2024-08-20T10:29:59.806176+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Diabetes can be a feature of lipodystrophy which is an established gene-disease association for PPARG",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2024-08-20T10:29:59.761319+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.135",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pparg has been classified as Green List (High Evidence).",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:26:25.925804+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP152 as ready",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:26:25.907736+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep152 has been classified as Green List (High Evidence).",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:26:22.102389+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP152 were changed from Seckel syndrome 5, 613823 (3) to Microcephaly 9, primary, autosomal recessive, MIM# 614852; MONDO:0013923; Seckel syndrome 5, MIM# 613823; MONDO:0013443",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:26:11.162914+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP152 were set to ",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:24:52.706505+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C1QC as ready",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:24:52.685786+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c1qc has been classified as Green List (High Evidence).",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:24:49.750504+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: C1QC were changed from C1q deficiency, 613652 (3) to C1q deficiency, MIM# 613652",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:24:34.774780+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: C1QC were set to ",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:24:22.107950+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: C1q deficiency, MIM# 613652; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:22:47.957418+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP41 as ready",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:22:47.941189+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep41 has been classified as Green List (High Evidence).",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:21:14.566788+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEP41 were changed from Joubert syndrome 15, 614464 (3) to Joubert syndrome 15, MIM# 614464",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:21:04.456562+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEP41 were set to ",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:20:49.132159+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:19:52.097353+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHRNA1 as ready",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:19:52.086111+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chrna1 has been classified as Green List (High Evidence).",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:19:48.493048+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNA1 were changed from Multiple pterygium syndrome, lethal type, 253290 (3) to Multiple pterygium syndrome, lethal type, MIM#253290; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:19:17.299517+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CHRNA1 were set to ",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:18:50.747121+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ETFA as ready",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:18:50.732854+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: etfa has been classified as Green List (High Evidence).",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:18:46.196455+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ETFA were set to ",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:18:16.118913+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FANCB as ready",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:18:16.100902+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fancb has been classified as Green List (High Evidence).",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:17:52.983522+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CERS3 as ready",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:17:52.971132+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cers3 has been classified as Green List (High Evidence).",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:17:49.883872+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CERS3 were changed from Ichthyosis, congenital, autosomal recessive 9, 615023 (3) to Ichthyosis, congenital, autosomal recessive 9, MIM# 615023; MONDO:0014010",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:17:36.798826+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CERS3 were set to ",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:17:02.804034+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:17:02.785618+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:16:59.712734+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FUCA1 were changed from Fucosidosis, 230000 (3) to Fucosidosis, MIM# 230000",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:16:25.915764+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: G6PC3 as ready",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:16:25.886723+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: g6pc3 has been classified as Green List (High Evidence).",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:16:17.752047+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: G6PC3 were changed from Dursun syndrome, 612541 (3) to Dursun syndrome, MIM# 612541; Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:16:00.356339+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dursun syndrome, MIM# 612541, Neutropenia, severe congenital 4, autosomal recessive, MIM# 612541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:15:05.859775+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:15:05.848771+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galt has been classified as Green List (High Evidence).",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:15:02.340929+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GALT were changed from Galactosemia, 230400 (3) to Galactosemia MIM# 230400",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:14:24.700794+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFTR as ready",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:14:24.684412+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cftr has been classified as Green List (High Evidence).",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:14:16.317501+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFTR were changed from Cystic fibrosis, 219700 (3) to Cystic fibrosis, MIM#219700; MONDO:0009061",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:14:05.205626+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFTR were set to ",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:11:56.381025+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ABCC8 as ready",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:11:56.364651+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: abcc8 has been classified as Green List (High Evidence).",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:09:41.929715+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3) to Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:09:24.413735+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC8 were set to ",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:05:16.020111+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ISPD as ready",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:05:16.005432+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ispd has been classified as Green List (High Evidence).",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:05:11.224882+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ISPD were set to ",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-08-19T19:05:01.495048+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag new gene name tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2024-08-19T13:36:42.483072+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CCBE1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-08-19T13:36:04.287983+10:00",
"panel_name": "Pulmonary Fibrosis_Interstitial Lung Disease",
"panel_id": 162,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CCBE1: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2024-08-19T11:04:00.692861+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BCAP31 as ready",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-08-19T11:04:00.687513+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Promote to Green at V2.",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-08-19T11:04:00.624195+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcap31 has been classified as Red List (Low Evidence).",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-08-19T11:03:24.318350+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: BCAP31.",
"entity_name": "BCAP31",
"entity_type": "gene"
},
{
"created": "2024-08-19T10:58:45.726361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELMOD3 as Red List (low evidence)",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2024-08-19T10:58:45.715040+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmod3 has been classified as Red List (Low Evidence).",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2024-08-19T10:58:25.794022+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELMOD3: Added comment: Discussed at GenCC: limited.; Changed rating: RED",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2024-08-19T10:58:04.419576+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ELMOD3 as Red List (low evidence)",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2024-08-19T10:58:04.401946+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: elmod3 has been classified as Red List (Low Evidence).",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2024-08-19T10:57:30.762207+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ELMOD3: Added comment: Discussed at GenCC: LIMITED.; Changed rating: RED",
"entity_name": "ELMOD3",
"entity_type": "gene"
},
{
"created": "2024-08-18T13:05:50.572196+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: GTPBP2.",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2024-08-18T13:05:42.623403+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GTPBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 26675814, 28454995, 29449720, 30790272, 38852771, 38118446; Phenotypes: Jaberi-Elahi syndrome, MIM#617988; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GTPBP2",
"entity_type": "gene"
},
{
"created": "2024-08-18T13:02:16.009748+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIF1B as Green List (high evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-18T13:02:15.997298+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-18T13:01:26.380638+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIF1B: Changed rating: GREEN",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-18T13:01:19.345584+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "1.44",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIF1B: Added comment: Multiple additional individuals now reported, including others with seizures. DEFINITIVE by ClinGen.; Changed publications: 36948290, 33103737",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:59:58.775425+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: YIF1B.",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:59:47.730347+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: YIF1B: Added comment: DEFINITIVE gene-disease association by ClinGen. Over 20 individuals now reported in the literature.; Changed publications: 33103737, 32006098, 36948290, 34373908",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:57:28.404864+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YIF1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:28:19.676059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1959",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP57 were changed from to Spermatogenic failure 95, MIM# 620917; Van der Woude Syndrome; Primary ciliary dyskinesia",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:27:56.392862+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFAP57 were set to ",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:27:34.486804+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP57 as Green List (high evidence)",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:27:34.476872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap57 has been classified as Green List (High Evidence).",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:27:15.917814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CFAP57: Added comment: PMID 36752199: 5 individuals from three families reported with biallelic LoF variants (two homozygous variants) and spermatogenic failure. Mouse model recapitulated the phenotype.; Changed rating: GREEN; Changed publications: 21574244, 32764743, 36752199; Changed phenotypes: Spermatogenic failure 95, MIM# 620917, Van der Woude Syndrome, Primary ciliary dyskinesia",
"entity_name": "CFAP57",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:23:30.888903+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FICD were changed from Hereditary motor neurone disease, FICD-related, MONDO:0024257 to Spastic paraplegia 92, autosomal recessive, MIM# 620911",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2024-08-18T12:22:23.754307+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FICD were changed from Hereditary motor neurone disease, FICD-related, MONDO:0024257 to Spastic paraplegia 92, autosomal recessive, MIM#\t620911",
"entity_name": "FICD",
"entity_type": "gene"
},
{
"created": "2024-08-16T16:24:38.106514+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CFTR: Rating: GREEN; Mode of pathogenicity: None; Publications: 31199594, 19092437, 38153325, 26708955, 32172939; Phenotypes: Cystic fibrosis, MIM#219700, MONDO:0009061; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2024-08-16T16:16:51.362706+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: GALT: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactosemia MIM# 230400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2024-08-16T16:12:28.448751+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: G6PC3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "G6PC3",
"entity_type": "gene"
},
{
"created": "2024-08-16T16:09:12.554954+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fucosidosis, MIM# 230000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-08-16T16:07:41.796781+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CERS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23754960, 23549421, 31168818, 30578701, 37128664; Phenotypes: Ichthyosis, congenital, autosomal recessive 9, MIM# 615023, MONDO:0014010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2024-08-16T15:59:11.260648+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: FANCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fanconi anaemia, complementation group B, MIM#300514; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FANCB",
"entity_type": "gene"
},
{
"created": "2024-08-16T15:52:06.315424+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lucy Spencer",
"item_type": "entity",
"text": "reviewed gene: ETFA: Rating: GREEN; Mode of pathogenicity: None; Publications: 31904027; Phenotypes: Glutaric acidemia IIA, MIM# 231680; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:24:23.246583+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.58",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PSKH1 as Green List (high evidence)",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:24:23.227680+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.58",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:24:11.253610+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PSKH1 as Green List (high evidence)",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:24:11.226853+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.25",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:24:02.973512+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PSKH1 as Green List (high evidence)",
"entity_name": "PSKH1",
"entity_type": "gene"
}
]
}