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"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=469",
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"results": [
{
"created": "2024-04-19T07:31:08.908755+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1697",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACBD6: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with progressive movement abnormalities, MIM# 620785; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACBD6",
"entity_type": "gene"
},
{
"created": "2024-04-18T13:58:36.994407+10:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-04-18T13:58:32.769115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5778",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-04-18T13:58:08.066097+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5778",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-04-18T13:58:08.054776+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2599",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-04-18T13:57:32.873865+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.198",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-04-18T13:57:12.875757+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.198",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-04-18T13:56:51.796004+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1697",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: IQSEC2 were changed from Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347 to Intellectual developmental disorder, X-linked 1\tMIM#309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2024-04-18T06:59:18.449116+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1696",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: SLC37A3 was added\ngene: SLC37A3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC37A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC37A3 were set to 28041643; 35486108\nPhenotypes for gene: SLC37A3 were set to retinitis pigmentosa, MONDO:0019200\nReview for gene: SLC37A3 was set to GREEN\nAdded comment: Three unrelated cases reported with biallelic variants in SLC37A3 gene (One case in PMID:28041643 and two cases in PMID:35486108) and with autosomal recessive retinitis pigmentosa. \nSources: Literature",
"entity_name": "SLC37A3",
"entity_type": "gene"
},
{
"created": "2024-04-18T03:55:20.460649+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1696",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "gene: PTCRA was added\ngene: PTCRA was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PTCRA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PTCRA were set to 38422122\nPhenotypes for gene: PTCRA were set to Autoimmunity, HP:0002960; lymphopenia, MONDO:0003783\nReview for gene: PTCRA was set to GREEN\nAdded comment: PMID:38422122 reported the identification of 10 individuals from seven kindreds from four different ethnicities with biallelic PTCRA variants (homozygous in five kindreds and compound heterozygous in two kindreds).\r\n\r\nSix of these 10 patients were clinically asymptomatic at their most recent evaluation, while other four patients displayed infection, lymphoproliferation, and/or autoimmunity with an onset during their teens or in adulthood. One of these patients died from SARS-CoV-2 pneumonia at the age of 24 years. Patient 9 had a small thymus on MRI at the age of 2 years, whereas P5 and P6 had no visible thymus at the ages of 13 and 8 years, respectively. Three of the nine patients with pLOF PTCRA variants tested were found to produce autoantibodies, several of which were associated with clinical manifestations. Anti-thyroid autoantibodies and/or clinically overt thyroiditis were found in three of the nine patients. P7, who suffered from recurrent herpes infections, had autoantibodies against type I interferons.\r\n\r\nTwo of those identified variants are hypomorphic and are associated with autoimmunity. In addition, there is extensive functional and epidemiological data available. \nSources: Literature",
"entity_name": "PTCRA",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:59:40.237831+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.548",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA60 were changed from Basal ganglia calcification, MONDO:0008947, NAA60-related to Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:59:07.695190+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NAA60: Changed phenotypes: Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:58:50.318264+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1696",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA60 were changed from Basal ganglia calcification, MONDO:0008947, NAA60-related to Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:58:32.654211+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:58:07.517273+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.95",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA60 were changed from Basal ganglia calcification, MONDO:0008947, NAA60-related to Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2024-04-17T12:57:25.093733+10:00",
"panel_name": "Brain Calcification",
"panel_id": 58,
"panel_version": "1.94",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NAA60: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal ganglia calcification, idiopathic, 9, autosomal recessive, MIM# 620786; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NAA60",
"entity_type": "gene"
},
{
"created": "2024-04-17T08:44:52.722191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1695",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy.\r\n\r\nAll affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM.; to: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy.\r\n\r\nAll affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain, and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-17T08:00:32.672117+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1695",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "changed review comment from: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy.\r\n\r\nAll affected individuals (seven males and seven females, aged 9-50 years) exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM.; to: PMID:38527963 reported the identification of seven novel or ultra-rare homozygous loss-of-function RTN2 variants in 14 individuals from seven unrelated families with distal hereditary motor neuropathy.\r\n\r\nAll affected individuals exhibited weakness in the distal upper and lower limbs, lower limb spasticity, hyperreflexia, with an onset in the first decade of life. Nerve conduction studies revealed axonal motor neuropathy with neurogenic changes in the electromyography.\r\n\r\nCharacterisation of C. elegans RTN2 homolog loss-of-function variants demonstrated morphological and behavioural differences compared to the parental strain and treatment with an endoplasmic/sarcoplasmic reticulum Ca(2+) re-uptake inhibitor (2,5-di-tert-butylhydroquinone) rescued key phenotypic differences.\r\n\r\nBiallelic variants in RTN2 gene have not yet been associated with any phenotypes in OMIM or Gene2Phenotype, while monoallelic variants have been associated with spastic paraplegia (MIM #604805) in OMIM.",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-17T00:09:00.223590+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1695",
"user_name": "Achchuthan Shanmugasundram",
"item_type": "entity",
"text": "reviewed gene: RTN2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38527963; Phenotypes: distal hereditary motor neuropathy, MONDO:0018894; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RTN2",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:54:50.190248+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX19 as ready",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:54:50.181234+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex19 has been classified as Green List (High Evidence).",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:54:43.490361+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX19 were changed from to Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:54:05.788195+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX19 were set to ",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:53:28.711537+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:52:47.911717+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 12A (Zellweger) - MIM#614886; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX19",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:51:44.103590+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX12 as ready",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:51:44.094600+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex12 has been classified as Green List (High Evidence).",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:51:40.071260+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2595",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX12 were changed from to Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859; Peroxisome biogenesis disorder 3B - MIM#266510",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:50:52.963089+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2594",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:50:16.237440+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX12: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 3A (Zellweger) - MIM#614859, Peroxisome biogenesis disorder 3B - MIM#266510; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:49:37.891628+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PEX1 as ready",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:49:37.878886+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pex1 has been classified as Green List (High Evidence).",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:49:30.716687+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2593",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PEX1 were changed from to Peroxisome biogenesis disorder 1A (Zellweger) 214100",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:48:51.442509+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2592",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PEX1 were set to ",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:48:15.555947+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2591",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PEX1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:47:38.936782+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PEX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Peroxisome biogenesis disorder 1A (Zellweger) 214100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:46:59.319868+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHX as ready",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:46:59.311079+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdhx has been classified as Green List (High Evidence).",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:46:56.439368+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2590",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHX were changed from to Lactic acidaemia due to PDX1 deficiency MIM#245349",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:46:24.517529+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2589",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHX were set to ",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:45:23.110066+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2588",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:44:44.489169+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDHX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lactic acidaemia due to PDX1 deficiency MIM#245349; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHX",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:42:01.345365+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDHA1 as ready",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:42:01.334887+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdha1 has been classified as Green List (High Evidence).",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:41:57.339656+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2587",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PDHA1 were changed from to Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:41:27.238557+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2586",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PDHA1 were set to ",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:40:51.338795+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2585",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PDHA1 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:40:12.367221+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PDHA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-alpha deficiency - MIM#312170; 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": "PDHA1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:38:58.510113+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCDH12 as ready",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:38:58.500663+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcdh12 has been classified as Green List (High Evidence).",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:38:46.426878+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2584",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCDH12 were changed from to Diencephalic-mesencephalic junction dysplasia syndrome 1, MIM# 251280",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:38:07.554123+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2583",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCDH12 were set to ",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:37:21.828698+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2582",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCDH12 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:36:21.278160+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCCB as ready",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:36:21.264878+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pccb has been classified as Green List (High Evidence).",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:36:17.796965+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2581",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCCB were changed from to Propionicacidemia - MIM#606054",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:35:40.960498+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2580",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCCB were set to ",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:35:05.129233+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2579",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCCB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:34:23.592658+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCCB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:32:51.633622+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PCCA as ready",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:32:51.620847+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pcca has been classified as Green List (High Evidence).",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:32:47.777247+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2578",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PCCA were changed from to Propionicacidemia - MIM#606054",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:32:08.482108+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2577",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PCCA were set to ",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:31:30.819020+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2576",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCCA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:30:51.588282+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PCCA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Propionicacidemia - MIM#606054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:26:00.858138+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OTUD6B as ready",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:26:00.846409+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud6b has been classified as Green List (High Evidence).",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:25:51.973970+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2575",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD6B were changed from to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, OMIM #617452",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:25:13.312819+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2574",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD6B were set to ",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:24:35.474027+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2573",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OTUD6B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:23:05.756996+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OPHN1 as ready",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:23:05.741767+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ophn1 has been classified as Green List (High Evidence).",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:23:02.331559+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2572",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OPHN1 were changed from to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, MIM#300486",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:21:38.624230+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2571",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OPHN1 were set to ",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:20:54.801490+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2570",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OPHN1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:20:17.849743+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.; to: OPHN1 variants cause cerebellar hypoplasia and distinctive facial appearance, macrocephaly is a feature. At least 8 families reported.\r\n\r\nSeizures are a feature.",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:17:51.954336+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OCLN as ready",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:17:51.941226+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ocln has been classified as Green List (High Evidence).",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:17:34.796717+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2569",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OCLN were changed from to Pseudo-TORCH syndrome 1, MIM#251290",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:16:57.980622+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2568",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OCLN were set to ",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:15:29.661685+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2567",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OCLN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:14:17.616055+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NSD1 as ready",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:14:17.603141+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nsd1 has been classified as Green List (High Evidence).",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:14:09.458072+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2566",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NSD1 were changed from to Sotos syndrome 1 (MIM#117550), AD",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:13:22.851088+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NSD1 were set to ",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:12:41.882690+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2564",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NSD1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:12:03.445291+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NSD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sotos syndrome 1 (MIM#117550), AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NSD1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:11:13.210363+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NGLY1 as ready",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:11:13.195301+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ngly1 has been classified as Green List (High Evidence).",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:11:10.078440+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NGLY1 were changed from to Congenital disorder of deglycosylation, MIM# 615273",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:10:33.055541+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2562",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NGLY1 were set to ",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:08:59.087334+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2561",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NGLY1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:06:19.238294+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFV1 as ready",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:06:19.226115+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufv1 has been classified as Green List (High Evidence).",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:06:15.799028+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NDUFV1 were changed from to Mitochondrial complex I deficiency, nuclear type 4 MIM#618225",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:05:39.969348+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NDUFV1 were set to ",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:05:02.845439+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2558",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NDUFV1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:04:23.660380+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NDUFV1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial complex I deficiency, nuclear type 4 MIM#618225; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:01:08.571931+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDUFS8 as ready",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2024-04-16T19:01:08.559526+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2557",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndufs8 has been classified as Green List (High Evidence).",
"entity_name": "NDUFS8",
"entity_type": "gene"
}
]
}