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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=502",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=500",
"results": [
{
"created": "2023-12-27T16:23:44.868981+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pde2a has been classified as Green List (High Evidence).",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:23:06.139977+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDE2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder with paroxysmal dyskinesia or seizures MIM#619150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDE2A",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:22:12.477751+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDCD10 as ready",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:22:12.464890+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd10 has been classified as Green List (High Evidence).",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:22:03.736687+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDCD10 as Green List (high evidence)",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:22:03.722490+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdcd10 has been classified as Green List (High Evidence).",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:21:22.862815+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDCD10: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral cavernous malformations-3 MIM#603285; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PDCD10",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:19:48.995873+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OGT: Changed rating: GREEN",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:19:29.767901+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OGT: Changed rating: RED",
"entity_name": "OGT",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:18:17.702306+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ODC1 were set to PMID:30475435; 30239107",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:17:19.457140+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ODC1: Changed rating: RED",
"entity_name": "ODC1",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:16:41.699065+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAK2 as ready",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:16:41.690249+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak2 has been classified as Red List (Low Evidence).",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:16:30.268464+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAK2 as Red List (low evidence)",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:16:30.251510+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak2 has been classified as Red List (Low Evidence).",
"entity_name": "PAK2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:12:09.052425+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen; however, experimental evidence appears not to have been considered.",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:11:12.169264+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen; however, experimental evidence appears not to have been considered.",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:10:43.530328+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen, however experimental evidence appears not to have been considered.",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:09:20.517656+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5657",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder; global developmental delay; behavioural difficulties ± epilepsy; autistic features; attention deficit hyperactive disorder; psychiatric symptoms to Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:08:42.167158+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5656",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRICKLE2 were set to PMID: 34092786",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:06:26.348152+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE2 as Amber List (moderate evidence)",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:06:26.332912+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5655",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:04:52.971366+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34092786, 21276947, 26942291, 26942292; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:04:12.868636+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1454",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder, MONDO:0700092; global developmental delay, behavioural difficulties ± epilepsy, autistic features, and attention deficit hyperactive disorder. to Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:03:46.999095+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1453",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRICKLE2 were set to 34092786",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:03:22.627486+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE2 as Amber List (moderate evidence)",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:03:22.614947+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1452",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:03:02.336801+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRICKLE2: Rating: AMBER; Mode of pathogenicity: None; Publications: 34092786, 21276947, 26942291, 26942292; Phenotypes: Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:02:19.473059+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE2 were changed from Neurodevelopmental disorder; global developmental delay; behavioural difficulties ± epilepsy; autistic features; attention deficit hyperactive disorder; psychiatric symptoms to Neurodevelopmental disorder MONDO:0700092, PRICKLE2-related",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:01:24.694010+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRICKLE2 were set to 34092786",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:00:39.731339+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE2 as Amber List (moderate evidence)",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T16:00:39.722872+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:59:49.768179+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE2: Added comment: LIMITED by ClinGen.; Changed rating: AMBER",
"entity_name": "PRICKLE2",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:56:57.807564+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PRICKLE1.",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:56:34.220067+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:54:47.067036+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Red List (low evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:54:47.057260+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:54:25.794029+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME.; Changed rating: RED",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:53:57.990406+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Red List (low evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:53:57.978585+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:53:27.038008+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME, DISPUTED for AD epilepsy.; Changed rating: RED",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:52:40.910937+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Red List (low evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:52:40.902625+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1451",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:52:20.385231+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen for AR PME and DISPUTED for AD epilepsy.; Changed rating: RED",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:51:35.494433+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Red List (low evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:51:35.486196+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:51:25.731340+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen.; to: LIMITED by ClinGen for AR PME, and DISPUTED for AD epilepsy.",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:51:07.349672+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Added comment: LIMITED by ClinGen.; Changed rating: RED",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:50:39.525669+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Red List (low evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:50:39.512783+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:49:56.923172+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Changed rating: RED",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:49:47.942288+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: LIMITED by ClinGen for PME, and DISPUTED for epilepsy.; to: LIMITED by ClinGen for AR PME, and DISPUTED for AD epilepsy.",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:48:41.046250+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: PRICKLE1: LIMITED by ClinGen for PME, and DISPUTED for epilepsy.",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:46:40.978800+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRICKLE1 as ready",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:46:40.966715+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:46:37.341285+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRICKLE1 were set to ",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:46:24.746232+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Amber List (moderate evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:46:24.735017+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:46:15.624959+11:00",
"panel_name": "Progressive Myoclonic Epilepsy",
"panel_id": 331,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 18976727, 30564977; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:44:36.460844+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Amber List (moderate evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:44:36.442635+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:44:15.514392+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Added comment: Note most reported variants are missense with little further supportive evidence and ClinVar variants in this gene are all VOUS/LB/B.; Changed rating: AMBER",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:43:24.308416+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRICKLE1 as ready",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:43:24.298398+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:43:20.171882+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE1 were changed from to Epilepsy, progressive myoclonic 1B, MIM# 612437",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:42:50.542058+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRICKLE1 were set to ",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:42:17.923369+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.537",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRICKLE1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:41:48.047802+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Amber List (moderate evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:41:48.034721+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.536",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:41:16.684089+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.535",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRICKLE1: Rating: AMBER; Mode of pathogenicity: None; Publications: 34597683, 30564977, 30345727, 29790814, 26727662, 31035234; Phenotypes: Epilepsy, progressive myoclonic 1B, MIM# 612437; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:39:32.635088+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRICKLE1 as ready",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:39:32.617991+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:39:29.782364+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.514",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRICKLE1 were changed from to Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:38:57.940533+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.513",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRICKLE1 were set to ",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:38:25.915428+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.512",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRICKLE1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:35:35.298820+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Red List (low evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:35:35.286302+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.511",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Red List (Low Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:35:02.266166+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.510",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRICKLE1: Rating: RED; Mode of pathogenicity: None; Publications: 26727662; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, PRICKLE1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:32:53.562634+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRICKLE1 as Amber List (moderate evidence)",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:32:53.550877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prickle1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:32:27.959532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Added comment: Note all ClinVar entries for this gene are VOUS/LB/B. The variants reported in bi-allelic cases are almost all missense without further supportive data.; Changed rating: AMBER",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:30:44.891125+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PRICKLE1: Added comment: Note ClinVar submissions for this gene are all VOUS/LB/B.; Changed rating: AMBER",
"entity_name": "PRICKLE1",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:22:40.719651+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PGM3 were changed from Idiopathic focal epilepsy to Idiopathic focal epilepsy; Immunodeficiency 23, MIM#\t615816",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2023-12-27T15:21:06.512243+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2099",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PGM3 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2023-12-27T12:01:20.951182+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510) to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T12:01:04.801821+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ERI1 was changed from BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T12:00:50.124111+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ERI1: Changed phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:59:43.928947+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:59:05.857145+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:58:46.027627+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related to Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:58:09.855602+11:00",
"panel_name": "Skeletal Dysplasia_Fetal",
"panel_id": 28,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:57:40.086592+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERI1 were changed from Spondyloepimetaphyseal dysplasia (MONDO#0100510), ERI1-related, Intellectual disability (MONDO#0001071), ERI1-related to Hoxha-Aliu syndrome, MIM# 620662; Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:57:12.592986+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1448",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hoxha-Aliu syndrome, MIM# 620662, Spondyloepimetaphyseal dysplasia, Guo-Salian type, MIM# 620663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:56:23.520553+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5654",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ERI1 were changed from Intellectual disability (MONDO#0001071), ERI1-related to Hoxha-Aliu syndrome, MIM# 620662",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:55:37.844427+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5653",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ERI1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hoxha-Aliu syndrome, MIM# 620662; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ERI1",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:41:04.657891+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1448",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:38:16.164555+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5653",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2023-12-27T11:37:27.964364+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2098",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: ALG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 35716054; Phenotypes: Congenital disorder of glycosylation, type Ih, MIM# 608104; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2023-12-22T16:41:32.100632+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2098",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: OCRL was added\ngene: OCRL was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: OCRL were set to 35919034\nPhenotypes for gene: OCRL were set to Lowe syndrome MIM#309000\nReview for gene: OCRL was set to RED\nAdded comment: PMID: 35919034: In a cohort of 83 Chinese individuals with Lowes syndrome or Dent-2 disease, 1/48 individuals with Lowes syndrome had epilepsy, developmental delay and intellectual disability with a maternally inherited p.R678X variant. \nSources: Literature",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2023-12-22T14:42:00.914034+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2098",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: PANK2 as Red List (low evidence)",
"entity_name": "PANK2",
"entity_type": "gene"
}
]
}