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{
"count": 221272,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=226",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=224",
"results": [
{
"created": "2025-05-18T04:49:42.033363+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R5C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 4, MIM# 621185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2025-05-18T04:49:16.565310+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5C were changed from Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability to Houge-Janssens syndrome 4, MIM# 621185",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2025-05-18T04:48:48.513683+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 4, MIM# 621185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2025-05-18T04:48:18.630552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5C were changed from Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability to Houge-Janssens syndrome 4, MIM# 621185",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2025-05-18T04:47:51.532455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PPP2R5C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Houge-Janssens syndrome 4, MIM# 621185; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2025-05-18T04:47:30.561150+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PPP2R5C were changed from Neurodevelopmental disorder, PPP2R5C-related (MONDO:070092); macrocephaly; intellectual disability to Houge-Janssens syndrome 4, MIM# 621185",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2025-05-18T04:46:55.444376+10:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PPP2R5C: Changed phenotypes: Houge-Janssens syndrome 4, MIM# 621185",
"entity_name": "PPP2R5C",
"entity_type": "gene"
},
{
"created": "2025-05-17T19:45:12.591297+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: RAI1_FAME8_TTTCA as ready",
"entity_name": "RAI1_FAME8_TTTCA",
"entity_type": "str"
},
{
"created": "2025-05-17T19:45:12.583305+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: rai1_fame8_tttca has been classified as Red List (Low Evidence).",
"entity_name": "RAI1_FAME8_TTTCA",
"entity_type": "str"
},
{
"created": "2025-05-17T19:44:56.355741+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.263",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: RAI1_FAME8_TTTCA was added\nSTR: RAI1_FAME8_TTTCA was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: RAI1_FAME8_TTTCA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: RAI1_FAME8_TTTCA were set to 37994247\nPhenotypes for STR: RAI1_FAME8_TTTCA were set to benign adult familial myoclonic epilepsy MONDO:0019448\nReview for STR: RAI1_FAME8_TTTCA was set to RED\nAdded comment: A single family from Mali segregating TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1. Consistent with other FAME expansions. RNA toxicity is suggested to be the mechanism. Loss of function is the mechanism of disease of Smith-Magenis syndrome. \nSources: Literature",
"entity_name": "RAI1_FAME8_TTTCA",
"entity_type": "str"
},
{
"created": "2025-05-17T19:19:09.170814+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked STR: NAXE_NME_GGGCC as ready",
"entity_name": "NAXE_NME_GGGCC",
"entity_type": "str"
},
{
"created": "2025-05-17T19:19:09.161402+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAXE_NME_GGGCC",
"entity_type": "str"
},
{
"created": "2025-05-17T19:19:01.023115+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified STR: NAXE_NME_GGGCC as Amber List (moderate evidence)",
"entity_name": "NAXE_NME_GGGCC",
"entity_type": "str"
},
{
"created": "2025-05-17T19:19:01.015915+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.262",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Str: naxe_nme_gggcc has been classified as Amber List (Moderate Evidence).",
"entity_name": "NAXE_NME_GGGCC",
"entity_type": "str"
},
{
"created": "2025-05-17T19:18:51.144373+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.261",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "STR: NAXE_NME_GGGCC was added\nSTR: NAXE_NME_GGGCC was added to Repeat Disorders. Sources: Literature\nMode of inheritance for STR: NAXE_NME_GGGCC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for STR: NAXE_NME_GGGCC were set to 39455596\nPhenotypes for STR: NAXE_NME_GGGCC were set to encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 1 MONDO:0020781\nReview for STR: NAXE_NME_GGGCC was set to AMBER\nSTR: NAXE_NME_GGGCC was marked as clinically relevant\nSTR: NAXE_NME_GGGCC was marked as current diagnostic\nAdded comment: A single case with a homozygous (result of UPD) repeat expansion in the promoter that leads to methylation of the promoter (identified by long-read sequencing). Biallelic loss of function variants in this gene cause a mitochondrial disease. \nSources: Literature",
"entity_name": "NAXE_NME_GGGCC",
"entity_type": "str"
},
{
"created": "2025-05-17T17:22:49.849071+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.260",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319; 37148549",
"entity_name": "THAP11_SCA51_CAG",
"entity_type": "str"
},
{
"created": "2025-05-17T17:22:14.748882+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.259",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: THAP11_SCA51_CAG were set to 15368101; 24677642; 34165550; 38113319",
"entity_name": "THAP11_SCA51_CAG",
"entity_type": "str"
},
{
"created": "2025-05-17T16:57:22.990458+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.258",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: AFF3_FRA2A_CGG were set to 24763282",
"entity_name": "AFF3_FRA2A_CGG",
"entity_type": "str"
},
{
"created": "2025-05-17T16:02:42.873534+10:00",
"panel_name": "Repeat Disorders",
"panel_id": 3597,
"panel_version": "0.257",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for STR: DIP2B_FRA12A_CGG were set to 17236128",
"entity_name": "DIP2B_FRA12A_CGG",
"entity_type": "str"
},
{
"created": "2025-05-16T09:41:23.464101+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "gene: ARL2BP was added\ngene: ARL2BP was added to Syndromic Retinopathy. Sources: Expert Review\nMode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL2BP were set to 23849777; 31425546; 36507858; 38649918\nPhenotypes for gene: ARL2BP were set to Ciliopathy MONDO:0005308\nReview for gene: ARL2BP was set to GREEN\nAdded comment: Classified as Definitive by ClinGen Retina GCEP on 02/01/2025 - https://search.clinicalgenome.org/CCID:004172\r\n\r\nAffected individuals present with different forms of ocular phenotypes along with other non-ocular phenotypes. \nSources: Expert Review",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-05-16T09:36:36.916563+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.159",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ARL2BP: Rating: RED; Mode of pathogenicity: None; Publications: 27790702, 20301590; Phenotypes: Retinitis pigmentosa 82 with or without situs inversus MIM#615434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL2BP",
"entity_type": "gene"
},
{
"created": "2025-05-15T16:42:54.583673+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.159",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: AHI1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28442542; Phenotypes: Joubert syndrome 3 MONDO:0012078, retinitis pigmentosa MONDO:0019200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2025-05-15T15:39:13.578149+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.159",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: AGBL5: Rating: GREEN; Mode of pathogenicity: None; Publications: 26720455, 26355662, 27842159; Phenotypes: retinitis pigmentosa 75, MONDO:0014871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2025-05-15T14:55:47.268722+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.159",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: 20797687 - only one individual presenting with nonsyndromic RP.\r\n\r\nPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome) is a form of syndromic RP. This association is green on syndromic RP.; to: 20797687 - only one individual presenting with nonsyndromic RP.\r\n\r\nPolyneuropathy, hearing loss, ataxia, retinitis pigmentosa, and cataract (PHARC syndrome) is a form of syndromic RP. This association is green on syndromic RP.\r\nMultiple individuals reported with syndromic RP.",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2025-05-15T14:55:33.057491+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.159",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: ABHD12: Rating: RED; Mode of pathogenicity: None; Publications: 20797687; Phenotypes: PHARC syndrome MONDO:0012984; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD12",
"entity_type": "gene"
},
{
"created": "2025-05-15T11:40:15.178922+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.223",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 11479594, 15911822, 1734303; Phenotypes: pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2025-05-14T14:26:44.171213+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCO2 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2025-05-14T13:54:42.855067+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GATA1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2025-05-14T13:54:14.277065+10:00",
"panel_name": "Diamond Blackfan anaemia",
"panel_id": 98,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GATA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Diamond-Blackfan anemia (MONDO:0015253); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "GATA1",
"entity_type": "gene"
},
{
"created": "2025-05-13T09:49:34.118348+10:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.39",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: ATP13A3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34493544; Phenotypes: Pulmonary hypertension, primary, 5 MIM#265400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "ATP13A3",
"entity_type": "gene"
},
{
"created": "2025-05-13T09:43:03.620729+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2591",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MMAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 24813872; Phenotypes: methylmalonic aciduria, cblB type MONDO:0009614; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2025-05-13T08:31:10.677464+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "1.37",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: NPHP4 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:17:54.822167+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PANX1 as ready",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:17:54.812291+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: panx1 has been classified as Green List (High Evidence).",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:17:51.341545+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PANX1 as Green List (high evidence)",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:17:51.331318+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: panx1 has been classified as Green List (High Evidence).",
"entity_name": "PANX1",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:17:14.761081+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEPT4 as ready",
"entity_name": "SEPT4",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:17:14.751049+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept4 has been classified as Green List (High Evidence).",
"entity_name": "SEPT4",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:16:59.212466+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEPT4 as Green List (high evidence)",
"entity_name": "SEPT4",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:16:59.202644+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sept4 has been classified as Green List (High Evidence).",
"entity_name": "SEPT4",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:16:50.764005+10:00",
"panel_name": "Infertility and Pregnancy Loss",
"panel_id": 4455,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEPT4 was added\ngene: SEPT4 was added to Infertility and Pregnancy Loss. Sources: Expert Review\nMode of inheritance for gene: SEPT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEPT4 were set to 36135717; 15737931; 15737930\nPhenotypes for gene: SEPT4 were set to Spermatogenic failure 99, MIM# 621194\nReview for gene: SEPT4 was set to GREEN\nAdded comment: Two unrelated cases with primary male infertility (asthenoteratozoospermia) from consanguineous Chinsese families with 2 difference homozygous stopgain variants (Patient 1: c.721A>T, p.R241* and Patient 2: c.205C>T, p.R69*). Multiple supporting mouse models where the male mice are sterile. \nSources: Expert Review",
"entity_name": "SEPT4",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:15:43.680812+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SEPT4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spermatogenic failure 99, MIM# 621194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SEPT4",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:12:16.365170+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from permanent neonatal diabetes mellitus MONDO:0100164; transient neonatal diabetes mellitus MONDO:0020525 to Maturity-onset diabetes of the young, type 12, MIM# 621196; permanent neonatal diabetes mellitus MONDO:0100164; transient neonatal diabetes mellitus MONDO:0020525",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:12:04.764666+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC8 were set to 21054355; 32027066; 32376986",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:11:46.829066+10:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21989597, 34014594; Phenotypes: Maturity-onset diabetes of the young, type 12, MIM# 621196; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:11:07.645615+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ABCC8 were changed from Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800 to Maturity-onset diabetes of the young, type 12, MIM# 621196; Diabetes mellitus, noninsulin-dependent MIM#125853; Diabetes mellitus, permanent neonatal 3, with or without neurologic features MIM#618857; Diabetes mellitus, transient neonatal 2 MIM#610374; Hyperinsulinemic hypoglycemia, familial, 1 MIM#256450; Hypoglycemia of infancy, leucine-sensitive MIM#240800",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:07:58.712451+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.348",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:07:49.036048+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.347",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:06:32.007808+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:06:07.810900+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:05:55.510174+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:05:29.957015+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:05:20.113421+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.974",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:04:52.327448+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.973",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:04:38.355277+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRPL49 were changed from Mitochondrial disease, MONDO:0044970, MRPL49-related to Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:04:17.526298+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: MRPL49: Changed phenotypes: Combined oxidative phosphorylation deficiency 60, MIM# 621195",
"entity_name": "MRPL49",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:03:29.810520+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 99, MIM# 301148",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:03:19.564760+10:00",
"panel_name": "Retinitis pigmentosa_Autosomal Recessive/X-linked",
"panel_id": 277,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IDH3G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 99, MIM# 301148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:03:01.277117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IDH3G were changed from X-linked retinitis pigmentosa, MONDO:0019200 to Retinitis pigmentosa 99, MIM# 301148",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-05-12T17:00:37.670890+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: IDH3G: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 99, MIM# 301148; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "IDH3G",
"entity_type": "gene"
},
{
"created": "2025-05-12T16:47:34.216219+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.141",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "changed review comment from: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606). \nSources: Literature; to: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606) and 11/15 had neurodevelopmental delay in Timberlake et al. (PMID: 27606499)\r\nSources: Literature",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2025-05-12T16:40:19.040973+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.141",
"user_name": "Boris Keren",
"item_type": "entity",
"text": "gene: SMAD6 was added\ngene: SMAD6 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SMAD6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD6 were set to PMID: 32499606\nPenetrance for gene: SMAD6 were set to Incomplete\nReview for gene: SMAD6 was set to GREEN\nAdded comment: 7/28 patients had intellectual disability in Calpena et al. (PMID: 32499606). \nSources: Literature",
"entity_name": "SMAD6",
"entity_type": "gene"
},
{
"created": "2025-05-12T14:38:53.342906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2588",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: MAN2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18651971, 9158146, 9758606, 9915946, 22161967; Phenotypes: alpha-mannosidosis MONDO:0009561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2025-05-12T14:16:10.767918+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2588",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "edited their review of gene: LYST: Changed publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2025-05-12T14:15:56.401223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2588",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: None; Publications: 8896560, 9215680, 31906877, 9215679, 26499269, 24112114, 28145517); Phenotypes: Chediak-Higashi syndrome MONDO:0008963; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2025-05-12T13:56:33.145117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2588",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LYRM7: Rating: GREEN; Mode of pathogenicity: None; Publications: 24014394, 26912632; Phenotypes: mitochondrial disease, LYRM7-related MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LYRM7",
"entity_type": "gene"
},
{
"created": "2025-05-12T13:31:35.156191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2588",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LPAR6: Rating: GREEN; Mode of pathogenicity: None; Publications: 18297072, 18297070, 18461368; Phenotypes: LPAR6-related hypotrichosis/woolly hair with or without hypotrichosis, MONDO:MONDO:0800312; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LPAR6",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:57:10.750550+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QDPR as ready",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:57:10.740596+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qdpr has been classified as Green List (High Evidence).",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:57:08.810319+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.854",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630 to Hyperphenylalaninaemia, BH4-deficient, C, MIM# 261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:57:01.543051+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.853",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QDPR were changed from Hyperphenylalaninemia, BH4-deficient, C, 261630 (3) to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:56:52.074527+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.852",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QDPR were set to ",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:56:32.098883+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PUS1 as ready",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:56:32.091735+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pus1 has been classified as Green List (High Evidence).",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:56:29.833776+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.851",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PUS1 were changed from Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3) to Myopathy, lactic acidosis, and sideroblastic anaemia 1, MIM# 600462",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:56:10.872775+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.850",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PUS1 were set to ",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:48.957427+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTS as ready",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:48.945517+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pts has been classified as Green List (High Evidence).",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:46.599638+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.849",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTS were changed from Hyperphenylalaninemia, BH4-deficient, A, 261640 (3) to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; BH4-deficient hyperphenylalaninemia A, MONDO:0009863",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:35.956486+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.848",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTS were set to ",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:15.444016+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSAP as ready",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:15.433583+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psap has been classified as Green List (High Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:12.875016+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.847",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3) to Metachromatic leukodystrophy due to SAP-b deficiency, MIM #249900; Combined SAP deficiency, MIM #611721; Gaucher disease, atypical, MIM #610539; Krabbe disease, atypical, MIM #611722",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:55:01.832600+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.846",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PSAP were set to ",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:54:41.371298+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPS1 as ready",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:54:41.358888+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prps1 has been classified as Green List (High Evidence).",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:54:38.665327+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.845",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from Arts syndrome, 301835 (3) to PRPS1 deficiency disorder MONDO:0100061; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:54:17.010210+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROP1 as ready",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:54:16.999669+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prop1 has been classified as Green List (High Evidence).",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:54:14.501388+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.844",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PROP1 were changed from Pituitary hormone deficiency, combined, 2, 262600 (3) to Pituitary hormone deficiency, combined, 2, MIM#262600",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:53.249203+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRF1 as ready",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:53.239418+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prf1 has been classified as Green List (High Evidence).",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:51.034886+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.843",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRF1 were changed from Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3) to Haemophagocytic lymphohistiocytosis, familial, 2 MIM#603553",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:39.629613+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.842",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRF1 were set to ",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:14.104143+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRDM5 as ready",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:14.094286+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prdm5 has been classified as Green List (High Evidence).",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:11.903098+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.841",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRDM5 were changed from Brittle cornea syndrome 2, 614170 (3) to Brittle cornea syndrome 2, MIM#614170",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:53:00.584580+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.840",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PRDM5 were set to ",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:52:40.468255+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PQBP1 as ready",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2025-05-09T16:52:40.458309+10:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "1.839",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Green List (High Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
}
]
}