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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=498",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=496",
"results": [
{
"created": "2024-01-08T17:30:07.623987+11:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-01-08T17:07:20.079021+11:00",
"panel_name": "Congenital nystagmus",
"panel_id": 3762,
"panel_version": "1.19",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-01-07T15:49:00.115504+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPIN4 as ready",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-07T15:49:00.092984+11:00",
"panel_name": "Overgrowth",
"panel_id": 151,
"panel_version": "1.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spin4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPIN4",
"entity_type": "gene"
},
{
"created": "2024-01-05T17:19:50.137732+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: PRIMA1 was added\ngene: PRIMA1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PRIMA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRIMA1 were set to PMID: 26339676\nPhenotypes for gene: PRIMA1 were set to Frontal Lobe Epilepsy MONDO:0002612\nReview for gene: PRIMA1 was set to RED\nAdded comment: - 2/3 siblings from unaffected parents in PMID: 26339676 were diagnosed with nocturnal frontal lobe epilepsy, which was confirmed by EEG. The affected siblings were homozygous for the c.93+2T>C variant canonical splice site variant. This variant was demonstrated by mini-gene assay to skip exon 2 of PRIMA1.\r\n\r\nOverall 1 family, 2 individuals with epilepsy and high impact variants in PRIMA1. \nSources: Literature",
"entity_name": "PRIMA1",
"entity_type": "gene"
},
{
"created": "2024-01-05T17:11:26.434653+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: POMGNT2 was added\ngene: POMGNT2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: POMGNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMGNT2 were set to PMID: 36808730\nPhenotypes for gene: POMGNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8 MIM#614830\nReview for gene: POMGNT2 was set to RED\nAdded comment: This gene was included in the Genes4Epilepsy (PMID: 36808730) Gene resource and was said to be associated with developmental and epileptic encephalopathies and malformations of cortical development. In a review of the literature an association with individuals presenting with epilepsy was not found. \nSources: Literature",
"entity_name": "POMGNT2",
"entity_type": "gene"
},
{
"created": "2024-01-05T16:54:24.099436+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: PLXNC1 was added\ngene: PLXNC1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PLXNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLXNC1 were set to PMID: 36808730\nPhenotypes for gene: PLXNC1 were set to Malformations of cortical development\nReview for gene: PLXNC1 was set to RED\nAdded comment: This gene was included in the genes4epilepsy resource (PMID:36808730) and was reported as being associated with the clinical phenotype \"malformations of cortical development\". \r\n\r\nThere are no current PubMed articles linking this gene with epilepsy however \nSources: Literature",
"entity_name": "PLXNC1",
"entity_type": "gene"
},
{
"created": "2024-01-05T15:50:37.211185+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: PRDM8 was added\ngene: PRDM8 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PRDM8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PRDM8 were set to PMID: 2296154; 35034233\nPhenotypes for gene: PRDM8 were set to ?Epilepsy, progressive myoclonic, 10 MIM#616640\nReview for gene: PRDM8 was set to RED\nAdded comment: - PMID:22961547, 3 individuals from one family, all with myoclonic epilepsy, all had the Phe261Leu variant. This variant is absent from gnomAD V4.\r\n\r\n- PMID: 35034233, Two individuals from one family, no clinical seizures but presented with myoclonus and abnormal EEG (generalised epileptiform charges), these individuals had the Ala230Gly missense change, which has currently been reported as a VUS. \nSources: Literature",
"entity_name": "PRDM8",
"entity_type": "gene"
},
{
"created": "2024-01-05T15:22:02.603875+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "reviewed gene: PPP2R5D: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26168268, 29296277, 26576547; Phenotypes: Houge-Janssens syndrome 1 MIM#616355; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-01-05T15:16:04.146341+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-01-05T15:15:56.345704+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: PPP2R5D was added\ngene: PPP2R5D was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPP2R5D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PPP2R5D were set to Houge-Janssens syndrome 1 MIM#616355\nReview for gene: PPP2R5D was set to GREEN\nAdded comment: - PMID:26168268, 3/11 individuals with intellectual disability also presented with epilepsy, In these three individuals two had the commonly reported pathogenic Glu198Lys variant while the third had another very well reported Glu200Lys variant.\r\n\r\n- PMID:29296277, 2/2 individuals in this study with variants in PPP2R5D with epilepsy. Both individuals had the Glu198Lys variant.\r\n\r\n- PMID: 26576547, 1/7 individuals with variants in this gene presented with complex partial seizures, this individual also had the Glu198Lys well reported variant. \nSources: Literature",
"entity_name": "PPP2R5D",
"entity_type": "gene"
},
{
"created": "2024-01-05T14:57:58.354076+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: POMK was added\ngene: POMK was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: POMK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: POMK were set to PMID: 24925318\nPhenotypes for gene: POMK were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 12 MIM#615249\nReview for gene: POMK was set to RED\nAdded comment: - PMID:24925318, 1/3 unrelated individuals with bi-allelic POMK variants presented with seizures along with Cobblestone lissencephaly and hydrocephalus. This individual was compound heterozgyous for a high impact frameshift variant (c.286delT, p.F96fs) and a missense variant (c.905T>A , p.V302D). \nSources: Literature",
"entity_name": "POMK",
"entity_type": "gene"
},
{
"created": "2024-01-05T14:01:07.445091+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: POGZ was added\ngene: POGZ was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POGZ were set to PMIS: 34645992; 31136090; 28490548; 26739615; 27824329\nPhenotypes for gene: POGZ were set to White-Sutton syndrome MIM#616364\nReview for gene: POGZ was set to GREEN\nAdded comment: - 2/12 Individuals in this in PMID:34645992 with POGZ PTVs were reported as having a history of at least 1 seizure. This information is mentioned in the article but seems to be left out in the clinical characteristics table on page 97 so we are unsure which individuals had a history of seizures.\r\n\r\n- PMID:31136090, a de novo POGZ truncating variant (c.2711T>G; p.Leu904*) in an individual with dysmorphic features and poor tolerance to oral feeding. No family history of seizures or ID. First epileptic seizure occurred at age 2 and persisted despite clobazam. MRI at age 3 showed cortical and sub cortical atrophy and individual presented with dev delay and epileptic encephalopathy.\r\n\r\n- PMID: 28480548, 15 year old female with healthy parents, MRI revealed global cerebellar atrophy, individual presented with dev delay and no verbal capacity, was being treated for epilepsy with medication. p.Asn941fs*3 variant was identified in this individual.\r\n\r\n- PMID:26739615, 5 individuals with POGZ p.Ser278* variant, only 1/5 with complex, partial seizures.\r\n\r\n- PMID:27824329, One chinese individual with autism, POGZ variant p.Gln127* who presented with seizures.\r\n\r\nAll the above variants are high impact and absent from gnomAD V4. 6 unique cases of individuals with high impact POGZ variants presenting with seizures/epilepsy. \nSources: Literature",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:11:05.155580+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG2 as ready",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:11:05.132869+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:10:47.716304+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG2 as Amber List (moderate evidence)",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:10:47.706417+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:10:06.713567+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: POLG2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:07:51.488755+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLP1 as ready",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:07:51.477773+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:07:33.417249+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLP1 as Green List (high evidence)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:07:33.407196+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:06:11.573564+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLP1 as Green List (high evidence)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-01-05T13:06:11.565364+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-01-05T12:07:21.508726+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2146",
"user_name": "Chris Ciotta",
"item_type": "entity",
"text": "gene: POLG2 was added\ngene: POLG2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: POLG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POLG2 were set to PMID: 21555342\nPhenotypes for gene: POLG2 were set to Progressive external ophthalmoplegia with mitochondrial DNA deletions, autosomal dominant 4 MIM#610131\nReview for gene: POLG2 was set to AMBER\nAdded comment: PMID:21555342 reports 4/11 unrelated individuals with mitochondrial disease as presenting with seizures and heterozygous variants in POLG2, 3/4 of these individuals had missense variants. Of these variants, 2 have been reported in Clinvar as benign and have high homozygote counts in gnomAD V4. The p.P205R variant was seen in an individual with seizures and is absent from gnomAD V4 and has been reported as pathogenic once in ClinVar for MIM#610131.\r\n\r\nThe last individual with seizures had a high impact variant (p.L475DfsX2) with 3 heterozygotes in the population (V4) which has been classified as pathogenic in ClinVar.\r\n\r\nOverall, 2/11 unrelated individuals with plausible pathogenic variants presenting with seizures. \nSources: Literature",
"entity_name": "POLG2",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:51:02.122230+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIA3 as ready",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:51:02.103654+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia3 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:50:55.996984+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIA3 as Green List (high evidence)",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:50:55.988382+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia3 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:50:15.565557+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIA3 was added\ngene: PPFIA3 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPFIA3 were set to 37034625\nPhenotypes for gene: PPFIA3 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related\nReview for gene: PPFIA3 was set to GREEN\nAdded comment: 19 individuals with mono-allelic variants presenting with features including developmental delay, intellectual disability, hypotonia, micro/macrocephaly, autism, and epilepsy. One individual with compound het variants: insufficient evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:48:28.147455+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIA3 as ready",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:48:28.133105+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia3 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:48:17.592241+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIA3 as Green List (high evidence)",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:48:17.583025+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia3 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:47:36.416762+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PPFIA3 as ready",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:47:36.405675+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia3 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:46:58.657082+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PPFIA3 as Green List (high evidence)",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:46:58.648644+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5667",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ppfia3 has been classified as Green List (High Evidence).",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T10:46:29.966142+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIA3 was added\ngene: PPFIA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPFIA3 were set to 37034625\nPhenotypes for gene: PPFIA3 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related\nReview for gene: PPFIA3 was set to GREEN\nAdded comment: 19 individuals with mono-allelic variants presenting with features including developmental delay, intellectual disability, hypotonia, micro/macrocephaly, autism, and epilepsy.\r\n\r\nOne individual with compound het variants: insufficient evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-05T09:59:55.142103+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5666",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PPFIA3 was added\ngene: PPFIA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PPFIA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PPFIA3 were set to 37034625\nPhenotypes for gene: PPFIA3 were set to Neurodevelopmental disorder, MONDO:0700092, PPFIA3-related\nReview for gene: PPFIA3 was set to GREEN\nAdded comment: 19 individuals with mono-allelic variants presenting with features including developmental delay, intellectual disability, hypotonia, micro/macrocephaly, autism, and epilepsy.\r\n\r\nOne individual with compound het variants: insufficient evidence for bi-allelic variants causing disease. \nSources: Literature",
"entity_name": "PPFIA3",
"entity_type": "gene"
},
{
"created": "2024-01-04T17:53:53.022929+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2144",
"user_name": "Lisa Norbart",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: PLP1 were set to 7512350; 11071483; 21679407; 28133555; 29486744; 35346287; 37637647\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher Disease, MIM#312080\nReview for gene: PLP1 was set to GREEN\nAdded comment: PMID: 7512350 (1994) - Mouse study demonstrating that seizures and convulsions are a result of a 2-fold increased PLP gene dosage. (Cited in OMIM)\r\n\r\nPMID: 11071483 (2000) - One family with 2x brothers affected with PMD, both developing seizures in late teens. Other symptoms in both brothers include hypotonia at birth, nystagmus, and slowly progressive spastic paraplegia. (Cited in OMIM)\r\n\r\nPMID: 21679407 (2011) - Male cohort, 43 individuals from 38 unrelated families with a PLP1-related disorder diagnosis. Seizures present in 2/43 males (both PLP1 duplication mutations). Additional symptoms include 3/43 stridor, 4/43 developmental delay, and 18/43 muscular hypotonia.\r\n\r\nPMID: 28133555 (2017) - Case report on 9 year old male affected with classic PMD. Presented with a history of seizures since age 4. Also presents with developmental delay, nystagmus, microcephaly, spastic quadriplegia. Maternally inherited gain of 436Kb on Xq22.2 encompassing TCEAL1,MORF4L2, PLP1, and RAB9B, of which only PLP1 is associated with a disease. \r\n\r\nPMID: 29486744 (2018) - Case report on family diagnosed with connatal PMD (previously diagnosed as X-linked epileptic seizures). The PLP1 missense mutation p.Ala84Asp was found to segregate in the family. 1x proband presenting with daily generalised seizures, onset at 8 months and no treatment response. 2x cousins and 2x maternal uncles also presented with epilepsy, all onset around 6 months and all died in childhood. Additional symptoms include 5/5 hypotonia and 5/5 psycho-motor delay. Consanguinity reported in the family.\r\n\r\nPMID: 35346287 (2022) - Chinese cohort of 141 patients, 111 whom were followed up with. Seizures present in 4/28 individuals with connatal PMD, including 1 patient who died due to epileptic seizures at age 7, and 4/56 individuals with transitional PMD. Additional symptoms include 111/111 development delay, 110/111 nystagmus, 93/111 hypotonia, 35/111 stridor, and 4/111 respiratory difficulty. \r\n\r\nPMID: 37637647 (2023) - Case report on 1x newborn individual diagnosed with failure to thrive and later PMD. Presented with episodes of rapid eye and side-to-side head movement episodes of 5-10 seconds, onset one month after birth. Diagnosis of seizure disorder considered before further testing. Individual hemizygous for PLP1: c.67G>A (p.Gly23Arg), maternally inherited.\r\n\r\nGeneReviews: Seizures may develop in infants affected by 'severe connatal PMD'. \nSources: Literature",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:06:04.670562+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A3 as ready",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:06:04.658305+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:05:49.950245+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.301",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:05:32.963698+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A3 as Green List (high evidence)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:05:32.943594+11:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.300",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:05:12.845084+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A3 as ready",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:05:12.836248+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:05:03.505816+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A3 were set to 30635937 35527102; https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:04:27.397046+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A3 were set to 30635937 35527102; https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:03:50.458746+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:03:17.355236+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A3 as Green List (high evidence)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:03:17.343696+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:02:31.524362+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A3 as ready",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:02:31.512346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:02:17.699762+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC13A3 were set to https://www.neurology.org/doi/full/10.1212/NXG.0000000000200101 (No PMID)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:01:51.895820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A3 as Green List (high evidence)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:01:51.886867+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:00:46.394114+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC13A3 as ready",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T15:00:46.380593+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:59:42.405838+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC13A3 as Green List (high evidence)",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:59:42.391185+11:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc13a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC13A3",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:44.517176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAX as ready",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:44.507117+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Green List (High Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:38.790743+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAX as Green List (high evidence)",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:38.779251+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Green List (High Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:18.203489+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAX as ready",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:18.188097+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Green List (High Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:12.505293+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAX as Green List (high evidence)",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:58:12.496200+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5665",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Green List (High Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:57:29.816761+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAX as ready",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:57:29.804063+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Green List (High Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:57:24.346263+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAX as Green List (high evidence)",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:57:24.336456+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Green List (High Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:56:37.185538+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MAX were changed from {Pheochromocytoma, susceptibility to}, MIM# 171300 to {Pheochromocytoma, susceptibility to}, MIM# 171300; Syndromic disease (MONDO:0002254), MAX-related",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:56:13.711766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MAX were set to 21685915",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:55:41.851781+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MAX as ready",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:55:41.827407+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:55:37.802476+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MAX as Amber List (moderate evidence)",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:55:37.791616+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: max has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:54:38.625046+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN2A as ready",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:54:38.614742+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:54:33.987786+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN2A as Green List (high evidence)",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:54:33.973437+11:00",
"panel_name": "Alternating Hemiplegia and Hemiplegic Migraine",
"panel_id": 40,
"panel_version": "0.55",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn2a has been classified as Green List (High Evidence).",
"entity_name": "SCN2A",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:53:15.107320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZRSR2 as ready",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:53:15.094524+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:53:09.371624+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZRSR2 as Green List (high evidence)",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:53:09.362203+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:50.973575+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZRSR2 as ready",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:50.961712+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:47.704673+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZRSR2 as Green List (high evidence)",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:47.693186+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:33.965507+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZRSR2 as ready",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:33.955589+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:30.721271+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZRSR2 as Green List (high evidence)",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:30.711843+11:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:15.920418+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZRSR2 as ready",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:15.909025+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:05.352041+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZRSR2 as Green List (high evidence)",
"entity_name": "ZRSR2",
"entity_type": "gene"
},
{
"created": "2024-01-04T14:52:05.342394+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5664",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zrsr2 has been classified as Green List (High Evidence).",
"entity_name": "ZRSR2",
"entity_type": "gene"
}
]
}