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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=456",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=454",
"results": [
{
"created": "2024-05-15T13:39:11.402417+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:39:11.388918+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:39:06.655094+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2672",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8 MIM#614830",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:38:26.407341+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2671",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POMGNT1 were set to ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:37:42.873246+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2670",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POMGNT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:36:53.275903+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: PMID 26908613 and 27391550: 4 unrelated families with isolated RP in adults.\r\n\r\nWell established association with dystroglycanopathy.; to: Well established association with dystroglycanopathy. Seizures are a feature of the more severe end of the spectrum.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:36:00.303053+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:36:00.285790+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:35:55.076214+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2669",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLG were changed from to Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:35:16.027240+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2668",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLG were set to ",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:34:39.743073+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-15T13:34:01.738802+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: POLG: Added comment: Seizures are a feature of the more severe, recessive disorders associated with this gene.; Changed phenotypes: Mitochondrial DNA depletion syndrome 4A (Alpers type), MIM# 203700, Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2024-05-15T07:57:54.501848+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.69",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, MIM#\t608776; Gillessen-Kaesbach-Nishimura syndrome, MIM#263210; Polycystic kidney disease to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM#263210; Polycystic kidney disease; ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2024-05-15T07:57:52.382130+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1788",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: ALG9 were changed from Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease to Congenital disorder of glycosylation, type Il, MIM#608776; Gillessen-Kaesbach-Nishimura syndrome, MIM# 263210; Polycystic kidney disease; ALG9-associated autosomal dominant polycystic kidney disease MONDO:0700000",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2024-05-14T16:20:01.741230+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KATNAL2: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005176; Phenotypes: complex neurodevelopmental disorder MONDO:0100038; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KATNAL2",
"entity_type": "gene"
},
{
"created": "2024-05-14T16:18:54.312343+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KAT6B: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005174; Phenotypes: KAT6B-related multiple congenital anomalies syndrome MONDO:0036042; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6B",
"entity_type": "gene"
},
{
"created": "2024-05-14T16:15:50.289668+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: KAT6A: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005173; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KAT6A",
"entity_type": "gene"
},
{
"created": "2024-05-14T16:12:29.877635+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: IGBP1: Rating: RED; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005117; Phenotypes: corpus callosum agenesis-intellectual disability-coloboma-micrognathia syndrome MONDO:0010333; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IGBP1",
"entity_type": "gene"
},
{
"created": "2024-05-14T16:11:07.056743+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: IDS: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005112; Phenotypes: mucopolysaccharidosis type 2 MONDO:0010674; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2024-05-14T16:04:19.059680+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HPRT1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005082; Phenotypes: Lesch-Nyhan syndrome MONDO:0010298; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:40:36.621941+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HOXA1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005077; Phenotypes: syndromic intellectual disability MONDO:0000508; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:39:06.996821+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: EP300 as Green List (high evidence)",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:39:06.984345+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.16",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: ep300 has been classified as Green List (High Evidence).",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:37:05.708831+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CREBBP as Green List (high evidence)",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:37:05.693590+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.15",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: crebbp has been classified as Green List (High Evidence).",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:36:25.524025+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: CREBBP was added\ngene: CREBBP was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: CREBBP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CREBBP were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588\nPhenotypes for gene: CREBBP were set to Rubinstein-Taybi syndrome 1, OMIM #180849\nReview for gene: CREBBP was set to GREEN\ngene: CREBBP was marked as current diagnostic\nAdded comment: Established gene-disease association. \r\nHyperinsulinaemic hypoglycaemia reported in less than 5%. \nSources: Literature",
"entity_name": "CREBBP",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:36:02.169783+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.14",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: EP300 was added\ngene: EP300 was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: EP300 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EP300 were set to PMID: 31137009, 33442921, 2240025, 31414570, 33043588\nPhenotypes for gene: EP300 were set to Rubinstein-Taybi syndrome 2, OMIM #613684\nReview for gene: EP300 was set to GREEN\ngene: EP300 was marked as current diagnostic\nAdded comment: Established gene-disease association. \r\nHyperinsulinaemic hypoglycaemia reported in less than 5%. \nSources: Literature",
"entity_name": "EP300",
"entity_type": "gene"
},
{
"created": "2024-05-14T15:24:35.214893+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.13",
"user_name": "Chirag Patel",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Genetic Health Queensland; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-14T14:55:53.992329+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: CACNA1D as Amber List (moderate evidence)",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:55:53.978755+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.12",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: cacna1d has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:55:19.940852+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: CACNA1D: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32336187; Phenotypes: congenital hyperinsulinism, primary hyperaldosteronism, and neurologic abnormalities; Mode of inheritance: None",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:53:54.384087+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: HNRNPK: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:005073; Phenotypes: neurodevelopmental disorder-craniofacial dysmorphism-cardiac defect-hip dysplasia syndrome (Au-Kline syndrome) MONDO:0018681; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HNRNPK",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:42:39.075510+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "commented on gene: HIST1H1E",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:34:09.399854+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: UCP2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 27967291, 23275527, 19065272, 28681398; Phenotypes: congenital hyperinsulinism; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "UCP2",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:29:35.327583+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GPC3: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004990; Phenotypes: Simpson-Golabi-Behmel syndrome MONDO:0010731; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:26:20.421462+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: GDI1: Rating: ; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004941; Phenotypes: non-syndromic X-linked intellectual disability MONDO:0019181; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:21:40.184908+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FTSJ1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004892; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FTSJ1",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:21:34.363235+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: PGM1 as Green List (high evidence)",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:21:34.338902+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.11",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pgm1 has been classified as Green List (High Evidence).",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:21:00.650558+10:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.10",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PGM1 was added\ngene: PGM1 was added to Hyperinsulinism. Sources: Literature\nMode of inheritance for gene: PGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PGM1 were set to PMID: 24499211, 27206562\nPhenotypes for gene: PGM1 were set to Congenital disorder of glycosylation, type It, OMIM# 614921\nReview for gene: PGM1 was set to GREEN\ngene: PGM1 was marked as current diagnostic\nAdded comment: Well established gene-disease association. Individuals can present with hypoglycaemia (+/- hyperinsulinism) and may not have all the syndromic features at presentation. \nSources: Literature",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-05-14T14:13:24.328774+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FMR1: Rating: GREEN; Mode of pathogenicity: None; Publications: https://search.clinicalgenome.org/CCID:004870; Phenotypes: fragile X syndrome MONDO:0010383; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FMR1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:52:32.528717+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:52:32.510483+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:52:28.397135+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5821",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:51:56.864969+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5820",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:51:25.664742+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5819",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPR was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:50:53.357128+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, MIM# 612716; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:47:28.573069+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5818",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAST3 were set to 34185323",
"entity_name": "MAST3",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:46:08.060082+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGTR2 as ready",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:46:08.041285+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agtr2 has been classified as Red List (Low Evidence).",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:45:57.485934+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in AGTR2 have been reported in individuals presenting various neurodevelopmental phenotypes, including intellectual disability, autistic features, epileptic seizures, speech delay, restlessness, and hyperactivity, as early as 2002. Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism, inheritance pattern, or phenotypic variability. Therefore, for the purposes of this curation, all of these features have been lumped into one disease entity, X-linked complex neurodevelopmental disorder. Although eight unique variants, including missense and truncating, have been reported in affected humans, the majority (six) have been ruled out from disease-causality based on high frequency in control populations (Piton et al., PMID 23871722), occurrence in unaffected males (Erdmann et al., PMID 14722754), non-segregation within a family (Bienvenu et al., PMID 12746399), and lack of enrichment in patients in a case-control study (Huang et al., PMID 16283672). Given that the two remaining variants are missense with no supporting functional evidence, and AGTR2 was the only gene sequenced in each case, the ClinGen Intellectual Disability and Autism Working Group recommended awarding 0 points for these variants. There are two AGTR2 mouse models which collectively show altered neuronal spine morphology, spatial memory impairment, delayed learning, and reduced exploratory behavior (PMIDs 18335189 and 7477267). \nSources: Expert Review; to: DISPUTED by ClinGen:\r\n\r\nVariants in AGTR2 have been reported in individuals presenting various neurodevelopmental phenotypes, including intellectual disability, autistic features, epileptic seizures, speech delay, restlessness, and hyperactivity, as early as 2002. Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism, inheritance pattern, or phenotypic variability. Therefore, for the purposes of this curation, all of these features have been lumped into one disease entity, X-linked complex neurodevelopmental disorder. Although eight unique variants, including missense and truncating, have been reported in affected humans, the majority (six) have been ruled out from disease-causality based on high frequency in control populations (Piton et al., PMID 23871722), occurrence in unaffected males (Erdmann et al., PMID 14722754), non-segregation within a family (Bienvenu et al., PMID 12746399), and lack of enrichment in patients in a case-control study (Huang et al., PMID 16283672). Given that the two remaining variants are missense with no supporting functional evidence, and AGTR2 was the only gene sequenced in each case, the ClinGen Intellectual Disability and Autism Working Group recommended awarding 0 points for these variants. There are two AGTR2 mouse models which collectively show altered neuronal spine morphology, spatial memory impairment, delayed learning, and reduced exploratory behavior (PMIDs 18335189 and 7477267). \r\nSources: Expert Review",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:45:34.698617+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1787",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AGTR2 was added\ngene: AGTR2 was added to Mendeliome. Sources: Expert Review\ndisputed tags were added to gene: AGTR2.\nMode of inheritance for gene: AGTR2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AGTR2 were set to X-linked complex neurodevelopmental disorder MONDO:0100148\nReview for gene: AGTR2 was set to RED\nAdded comment: Variants in AGTR2 have been reported in individuals presenting various neurodevelopmental phenotypes, including intellectual disability, autistic features, epileptic seizures, speech delay, restlessness, and hyperactivity, as early as 2002. Per criteria outlined by the ClinGen Lumping and Splitting Working Group, we found no difference in molecular mechanism, inheritance pattern, or phenotypic variability. Therefore, for the purposes of this curation, all of these features have been lumped into one disease entity, X-linked complex neurodevelopmental disorder. Although eight unique variants, including missense and truncating, have been reported in affected humans, the majority (six) have been ruled out from disease-causality based on high frequency in control populations (Piton et al., PMID 23871722), occurrence in unaffected males (Erdmann et al., PMID 14722754), non-segregation within a family (Bienvenu et al., PMID 12746399), and lack of enrichment in patients in a case-control study (Huang et al., PMID 16283672). Given that the two remaining variants are missense with no supporting functional evidence, and AGTR2 was the only gene sequenced in each case, the ClinGen Intellectual Disability and Autism Working Group recommended awarding 0 points for these variants. There are two AGTR2 mouse models which collectively show altered neuronal spine morphology, spatial memory impairment, delayed learning, and reduced exploratory behavior (PMIDs 18335189 and 7477267). \nSources: Expert Review",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:41:26.296505+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5817",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AGTR2 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:41:00.222790+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5816",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AGTR2 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:39:19.970277+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: AGTR2.",
"entity_name": "AGTR2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:38:58.951011+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LIPC as ready",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:38:58.937376+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lipc has been classified as Red List (Low Evidence).",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:38:56.490938+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LIPC were changed from {Diabetes mellitus, noninsulin-dependent}, 125853; [High density lipoprotein cholesterol level QTL 12], 612797; Hepatic lipase deficiency, 614025 to {Diabetes mellitus, noninsulin-dependent}, MIM#125853",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:38:40.117231+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LIPC were set to ",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:38:02.599373+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COQ2 as ready",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:38:02.579258+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:38:00.504886+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ2 were changed from neonatal hyperglycaemia, Primary Coenzyme Q10 Deficiency to coenzyme Q10 deficiency, primary, 1 MONDO:0011829",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:34:48.042523+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ2 were set to ",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:32:49.756176+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COQ2 as Green List (high evidence)",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:32:49.744215+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: coq2 has been classified as Green List (High Evidence).",
"entity_name": "COQ2",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:32:17.759534+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIDEC as ready",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:32:17.747670+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cidec has been classified as Red List (Low Evidence).",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:32:15.768059+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIDEC were changed from Lipodystrophy, familial partial, type 5 to CIDEC-related familial partial lipodystrophy MONDO:0014098",
"entity_name": "CIDEC",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:27:46.215185+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CAV1 as ready",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:27:46.203178+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cav1 has been classified as Red List (Low Evidence).",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:27:41.067724+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CAV1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:27:29.366274+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single family reported.; to: Single family reported in 2008.",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:27:08.831693+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CAV1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "CAV1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:26:11.332993+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZFP57 as ready",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:26:11.316508+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfp57 has been classified as Green List (High Evidence).",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:26:08.674928+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ZFP57 were changed from Diabetes mellitus, transient neonatal, 1, 601410; Transient Neonatal Diabetes; Transient Neonatal Diabetes, Recessive to Diabetes mellitus, transient neonatal, 1, MIM#601410",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:25:55.708843+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ZFP57 were set to ",
"entity_name": "ZFP57",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:25:27.619777+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTF1A as ready",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:25:27.589585+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptf1a has been classified as Green List (High Evidence).",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:25:24.874186+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTF1A were changed from Permanent neonatal diabetes mellitus (PNDM); Diabetes mellitus, permanent neonatal, with cerebellar agenesis, 609069 to Diabetes mellitus, permanent neonatal, with cerebellar agenesis, MIM#609069",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:25:03.523750+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTF1A were set to ",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:21:31.386394+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDX1 as ready",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:21:31.370183+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdx1 has been classified as Green List (High Evidence).",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:21:29.334734+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDX1 were changed from Permanent neonatal diabetes; Maturity-Onset Diabetes Of The Young; Maturity-onset diabetes of the young (MODY); MODY type IV; Recessive neonatal diabetes, pancreatic agenesis and dominant MODY, 606392; MODY4; Pancreatic agenesis 1; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 4 to maturity-onset diabetes of the young type 4 MONDO:0011667",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:21:14.846947+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDX1 were set to ",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:20:49.506275+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NEUROD1 as ready",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:20:49.492505+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: neurod1 has been classified as Green List (High Evidence).",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:18:42.650911+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NEUROD1 were changed from MODY6; Maturity-Onset Diabetes Of The Young; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity Onset Diabetes of the Young; Maturity-onset diabetes of the young 6, 606394; Permanent neonatal diabetes and cerebellar agenesis to maturity-onset diabetes of the young type 6 MONDO:0011668",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:17:17.561827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: AVPR1A.",
"entity_name": "AVPR1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:17:04.088653+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AVPR1A as ready",
"entity_name": "AVPR1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:17:04.076213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: avpr1a has been classified as Red List (Low Evidence).",
"entity_name": "AVPR1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:16:52.176427+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1786",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AVPR1A was added\ngene: AVPR1A was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: AVPR1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AVPR1A were set to 24924430\nPhenotypes for gene: AVPR1A were set to Autism spectrum disorder MONDO:0005258\nReview for gene: AVPR1A was set to RED\nAdded comment: DISPUTED by ClinGen:\r\n\r\nThe Arginine Vasopressin Receptor 1A (AVPR1A) was considered a candidate gene in autism spectrum disorder (ASD) based on reports focused on linkage intervals and animal models. Additionally, experimental evidence showed that AVPR1A is possibly involved in social behaviors, including affiliation and attachment (PMID: 24924430). However, these association studies were underpowered—sequencing more individuals may have identified variants of functional significance. In two studies, transmission disequilibrium between AVPR1A microsatellites and autism were found but most were not statistically significant (PMID: 12082568, 16520824). In another study, investigators screened AVPR1A exons in 125 independent autistic probands (PMID: 15098001). However, the study did not demonstrate a disease-causing variant in the coding sequence, and the authors noted that differences in AVPR1A at the amino-acid level are unlikely to confer genetic vulnerability to autism. Experimental evidence is available, but, in the absence of human genetic evidence, such data were not utilized in the scoring. In summary, there is no valid genetic evidence to support an association between AVPR1A and autism spectrum disorder. \nSources: Expert list",
"entity_name": "AVPR1A",
"entity_type": "gene"
},
{
"created": "2024-05-14T06:11:38.046592+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: AVPR1A.",
"entity_name": "AVPR1A",
"entity_type": "gene"
},
{
"created": "2024-05-13T19:01:01.828075+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BAZ2B as Amber List (moderate evidence)",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2024-05-13T19:01:01.798047+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5815",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: baz2b has been classified as Amber List (Moderate Evidence).",
"entity_name": "BAZ2B",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:59:42.921453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCORL1 as Amber List (moderate evidence)",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:59:42.906060+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1785",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:59:24.352900+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1784",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: BCORL1: Added comment: Classified as LIMITED by ClinGen.; Changed rating: AMBER",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:58:46.122915+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: BCORL1 as Amber List (moderate evidence)",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2024-05-13T18:58:46.103010+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5814",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bcorl1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "BCORL1",
"entity_type": "gene"
}
]
}