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{
    "count": 213758,
    "next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=4",
    "previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?format=api&page=2",
    "results": [
        {
            "created": "2024-03-18T16:02:36.916639Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "4.58",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Phenotypes for gene: ZFHX3 were changed from syndromic intellectual disability to Spinocerebellar ataxia 4, OMIM:600223; spinocerebellar ataxia type 4, MONDO:0010847",
            "entity_name": "ZFHX3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-18T16:01:18.094052Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "4.57",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Entity copied from Intellectual disability - microarray and sequencing v5.499",
            "entity_name": "ZFHX3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-18T16:01:17.977509Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "4.57",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "gene: ZFHX3 was added\ngene: ZFHX3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZFHX3 were set to 38412861; 38035881; 37292950\nPhenotypes for gene: ZFHX3 were set to syndromic intellectual disability",
            "entity_name": "ZFHX3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-18T15:47:40.664233Z",
            "panel_name": "Intellectual disability - microarray and sequencing",
            "panel_id": 285,
            "panel_version": "5.499",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Classified gene: ZFHX3 as Amber List (moderate evidence)",
            "entity_name": "ZFHX3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-18T15:47:40.653895Z",
            "panel_name": "Intellectual disability - microarray and sequencing",
            "panel_id": 285,
            "panel_version": "5.499",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Gene: zfhx3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "ZFHX3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-18T15:10:04.571764Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.103",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag new-gene-name was removed from gene: ATP5E.\nTag Q4_23_promote_green was removed from gene: ATP5E.\nTag Q4_23_NHS_review was removed from gene: ATP5E.\nTag watchlist tag was added to gene: ATP5E.\nTag Q1_24_promote_green tag was added to gene: ATP5E.\nTag Q1_24_NHS_review tag was added to gene: ATP5E.",
            "entity_name": "ATP5E",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-18T13:58:44.147340Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.103",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "changed review comment from: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for  ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710.  Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.; to: PMID: 34954817 reports two further cases of OMIM: 614053 who are both homozygous for  ATP5E (new gene name: ATP5F1E) variant c.35A>G, p.Tyr12Cys (rs387906929), previously reported in PubMed: 20566710.  Personal communication with the lead author of PMID: 34954817, confirmed that none of these cases were related to one another and so represent independent occurrences of this variant.  In addition, PMID: 34954817 reports significantly reduced ATPase amounts associated with the ATP5F1E variants.",
            "entity_name": "ATP5E",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-18T12:54:44.526906Z",
            "panel_name": "Intellectual disability - microarray and sequencing",
            "panel_id": 285,
            "panel_version": "5.498",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "gene: ZFHX3 was added\ngene: ZFHX3 was added to Intellectual disability - microarray and sequencing. Sources: Literature\nMode of inheritance for gene: ZFHX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZFHX3 were set to 38412861; 38035881; 37292950\nPhenotypes for gene: ZFHX3 were set to syndromic intellectual disability",
            "entity_name": "ZFHX3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:47:16.641490Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: XK: Should be included in R78 as now inlcudes many other complex phenotype genes that can present with neuropathy",
            "entity_name": "XK",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:45:33.120528Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: TYMP: Added comment: Can present with neuropathy and should be included in R78 panel; Changed publications to: 21933806",
            "entity_name": "TYMP",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:41:44.611228Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: SURF1: Added comment: Should be included as R78 now includes complex phenotype genes; Changed publications to: 27475922, 12026244, 24027061",
            "entity_name": "SURF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:39:23.915803Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: SPTBN4",
            "entity_name": "SPTBN4",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:35:56.270941Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: SLC25A19: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed phenotypes to: Acute encephalopathic episodes and paralysis following febrile illness with almost complete recovery. Absent sensory-motor action potential during illness. Bilateral striatal necrosis on MRI. Additional chronic progressive axonal neuropathy",
            "entity_name": "SLC25A19",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:34:30.869556Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: SCARB2: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 21670406, 19597094",
            "entity_name": "SCARB2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:33:53.603844Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: SACS: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 30460542",
            "entity_name": "SACS",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:31:45.645738Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: POLR3A: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "POLR3A",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:30:34.274977Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: PNPLA6: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "PNPLA6",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:30:14.330408Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: PMM2: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed phenotypes to: Neonatal onset, leukodystrophy, abnormal serum glycoproteins, mental retardation, hypotonia, ataxia, retinitis pigmentosa, seizures, slowly progressive neuropathy with SNCV, severe infections, hepatic insufficiency and cardiomyopathy.",
            "entity_name": "PMM2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:29:46.403756Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: PLP1: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 12601703",
            "entity_name": "PLP1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:27:59.288891Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: PEX7: Added comment: Should be included in R78 as can present with neuropathy and other complex disease are now include in R78; Changed publications to: 11493716",
            "entity_name": "PEX7",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:21:53.791253Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: PEX10: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 27230853, 20695019",
            "entity_name": "PEX10",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:21:20.072571Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: PDYN: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "PDYN",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:17:33.580118Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: NAGA: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "NAGA",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:16:41.042894Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: MTTP: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "MTTP",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:15:42.759672Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: MMACHC: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed phenotypes to: Onset infancy to adulthood, thrombotic thrombocytopenia with encephalopathy, myelopathy, renal and pulmonary complications (can be life threatening), retinitis pigmentosa, axonal motor neuropathy. Treated with high dose vitamin B12.",
            "entity_name": "MMACHC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:15:15.729779Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: LYST: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "LYST",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:13:33.223181Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: IARS2: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 25130867, 28328135, 30041933, 30419932",
            "entity_name": "IARS2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:09:32.053569Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: GBA2: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "GBA2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:08:52.486452Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: BCKDHB: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 18855118, 11180212; Changed phenotypes to: Maple Syrup Urine Disease, Metabolic encephalopathy, elevated branched chain amino acids in urine, acute axonal neuropathy",
            "entity_name": "BCKDHB",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:08:29.973023Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: B4GALNT1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "B4GALNT1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:07:21.268768Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: APOA1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "APOA1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:07:01.469282Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "Deleted their comment",
            "entity_name": "AP1S1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:06:54.387654Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: AP1S1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "AP1S1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:06:40.031626Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: AGXT: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 4701948, 25363903",
            "entity_name": "AGXT",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:06:29.575256Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: AGTPBP1: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "AGTPBP1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:06:17.720437Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: ABHD12: Added comment: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46; Changed publications to: 29571850, 20797687",
            "entity_name": "ABHD12",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:05:50.681384Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "commented on gene: GAN: should be included in R78 panel as panel now includes complex phenotypes e.g. ACOX1, HEXA, HEXB, MCM3AP, MORC2, PIGB, POLR3B, SLC25A46",
            "entity_name": "GAN",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:04:18.282662Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: FXN: Added comment: FA can present with a sensory neuropathy and should be included in the R78 panel. A missense may prompt testing for an expansion in the other allele.; Changed publications to: 20339857",
            "entity_name": "FXN",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-17T21:00:32.844312Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "3.83",
            "user_name": "Alexander Rossor",
            "item_type": "entity",
            "text": "edited their review of gene: GALC: Added comment: Can present with peripheral neuropathy and should be included in R78 panel; Changed publications to: 26840509; Changed phenotypes to: Krabbe. Spastic paraplegia, developmental delay, optic atrophy, adult onset has spastic paraplegia and sensory-motor axonal neuropathy with slow or normal conduction velocities, MRI shows leukodystrophy",
            "entity_name": "GALC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-14T17:20:25.829409Z",
            "panel_name": "Intellectual disability - microarray and sequencing",
            "panel_id": 285,
            "panel_version": "5.497",
            "user_name": "Tracy Lester",
            "item_type": "entity",
            "text": "reviewed gene: SOX9: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Skeletal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "SOX9",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T06:22:45.449418Z",
            "panel_name": "Optic neuropathy",
            "panel_id": 186,
            "panel_version": "4.24",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "changed review comment from: Comment on list classification: There are two unrelated cases reported with optic atrophy and hence this gene should be rated amber with Current evidence.; to: Comment on list classification: There are two unrelated cases reported with optic atrophy and hence this gene should be rated amber with current evidence.",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T06:22:26.578321Z",
            "panel_name": "Optic neuropathy",
            "panel_id": 186,
            "panel_version": "4.24",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Classified gene: SNF8 as Amber List (moderate evidence)",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T06:22:26.572338Z",
            "panel_name": "Optic neuropathy",
            "panel_id": 186,
            "panel_version": "4.24",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: There are two unrelated cases reported with optic atrophy and hence this gene should be rated amber with Current evidence.",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T06:22:26.538197Z",
            "panel_name": "Optic neuropathy",
            "panel_id": 186,
            "panel_version": "4.24",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Gene: snf8 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T06:20:26.808334Z",
            "panel_name": "Optic neuropathy",
            "panel_id": 186,
            "panel_version": "4.23",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "gene: SNF8 was added\ngene: SNF8 was added to Optic neuropathy. Sources: Literature\nMode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNF8 were set to 38423010\nPhenotypes for gene: SNF8 were set to neurodevelopmental disorder, MONDO:0700092; optic atrophy, MONDO:0003608\nReview for gene: SNF8 was set to AMBER\nAdded comment: PMID:38423010 reported nine individuals from six families presenting with a spectrum of neurodevelopmental/ neurodegenerative features caused by biallelic variants in SNF8.\r\n\r\nThe phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy with leukoencephalopathy and early death in three of those cases. Two individuals died too young to develop epilepsy. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous. Three of the patients (from two families) with the milder phenotype also have optic atrophy.\r\n\r\nFunctional studies using fibroblasts derived from patients and zebrafish model showed loss of function as the disease mechanism.\r\n\r\nThis gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T05:56:12.237642Z",
            "panel_name": "Early onset or syndromic epilepsy",
            "panel_id": 402,
            "panel_version": "4.181",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Classified gene: SNF8 as Amber List (moderate evidence)",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T05:56:12.233506Z",
            "panel_name": "Early onset or syndromic epilepsy",
            "panel_id": 402,
            "panel_version": "4.181",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: There are only two unrelated patients reported with seizures and hence this gene should be rated amber with current evidence.",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T05:56:12.207135Z",
            "panel_name": "Early onset or syndromic epilepsy",
            "panel_id": 402,
            "panel_version": "4.181",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Gene: snf8 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-13T05:54:56.298633Z",
            "panel_name": "Early onset or syndromic epilepsy",
            "panel_id": 402,
            "panel_version": "4.180",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "gene: SNF8 was added\ngene: SNF8 was added to Early onset or syndromic epilepsy. Sources: Literature\nMode of inheritance for gene: SNF8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNF8 were set to 38423010\nPhenotypes for gene: SNF8 were set to neurodevelopmental disorder, MONDO:0700092; epilepsy, MONDO:0005027\nReview for gene: SNF8 was set to AMBER\nAdded comment: PMID:38423010 reported nine individuals from six families presenting with a spectrum of neurodevelopmental/ neurodegenerative features caused by biallelic variants in SNF8.\r\n\r\nThe phenotypic spectrum included four individuals with severe developmental and epileptic encephalopathy with leukoencephalopathy and early death in three of those cases. Two individuals died too young to develop epilepsy. A second cohort shows a milder phenotype with intellectual disability, childhood-onset optic atrophy, or ataxia. All mildly affected individuals shared the same hypomorphic variant, c.304G>A (p.Val102Ile) as compound heterozygous.\r\n\r\nFunctional studies using fibroblasts derived from patients and zebrafish model showed loss of function as the disease mechanism.\r\n\r\nThis gene has not yet been associated with any phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
            "entity_name": "SNF8",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:09:55.152892Z",
            "panel_name": "Likely inborn error of metabolism - targeted testing not possible",
            "panel_id": 467,
            "panel_version": "4.134",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: G6PC were changed from Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease; Glycogen Storage Disease Ia; Glycogen storage disease Ia, 232200; Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); Glycogen storage disease Ia; fasting intolerance with enlarged liver, renal tubular disease to Glycogen storage disease Ia, OMIM:232200",
            "entity_name": "G6PC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:09:30.961523Z",
            "panel_name": "Mitochondrial disorders",
            "panel_id": 112,
            "panel_version": "4.167",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia to Glycogen storage disease Ia, OMIM:232200",
            "entity_name": "G6PC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:09:15.868014Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.103",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia, 232200 to Glycogen storage disease Ia, OMIM:232200",
            "entity_name": "G6PC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:09:11.720691Z",
            "panel_name": "Undiagnosed metabolic disorders",
            "panel_id": 302,
            "panel_version": "1.615",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: G6PC were changed from Glycogen storage disease type 1a, von Gierke (Glycogen storage disorders); fasting intolerance with enlarged liver, renal tubular disease; Glycogen storage disease Ia, 232200; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease;  Glycogen Storage Disease Ia to Glycogen storage disease Ia, OMIM:232200",
            "entity_name": "G6PC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:08:50.906128Z",
            "panel_name": "Glycogen storage disease",
            "panel_id": 528,
            "panel_version": "2.4",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: G6PC were changed from Glycogen storage disease Ia 232200 to Glycogen storage disease Ia, OMIM:232200",
            "entity_name": "G6PC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:08:46.929721Z",
            "panel_name": "Ketotic hypoglycaemia",
            "panel_id": 248,
            "panel_version": "1.9",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: G6PC were changed from fasting intolerance with enlarged liver, renal tubular disease; Glycogen storage disease Ia, 232200; Glycogen Storage Disease Type I; Glycogen Storage Disorders- Liver; Glycogen Storage Disease;  Glycogen Storage Disease Ia to Glycogen storage disease Ia, OMIM:232200",
            "entity_name": "G6PC",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:07:00.308596Z",
            "panel_name": "Mitochondrial disorder with complex V deficiency",
            "panel_id": 538,
            "panel_version": "2.16",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: ATPAF1 as Red List (low evidence)",
            "entity_name": "ATPAF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:07:00.304773Z",
            "panel_name": "Mitochondrial disorder with complex V deficiency",
            "panel_id": 538,
            "panel_version": "2.16",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "ATPAF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:07:00.253408Z",
            "panel_name": "Mitochondrial disorder with complex V deficiency",
            "panel_id": 538,
            "panel_version": "2.16",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: atpaf1 has been classified as Red List (Low Evidence).",
            "entity_name": "ATPAF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:55.442376Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.102",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: ATPAF1 as Red List (low evidence)",
            "entity_name": "ATPAF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:55.437504Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.102",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "ATPAF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:55.391870Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.102",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: atpaf1 has been classified as Red List (Low Evidence).",
            "entity_name": "ATPAF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:17.038610Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.19",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COA4 as Red List (low evidence)",
            "entity_name": "COA4",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:17.031952Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.19",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COA4",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:16.986122Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.19",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: coa4 has been classified as Red List (Low Evidence).",
            "entity_name": "COA4",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:12.198486Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.101",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COA4 as Red List (low evidence)",
            "entity_name": "COA4",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:12.193368Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.101",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COA4",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:06:12.142613Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.101",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: coa4 has been classified as Red List (Low Evidence).",
            "entity_name": "COA4",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:05:15.597084Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.18",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX17 as Red List (low evidence)",
            "entity_name": "COX17",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:05:15.581644Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.18",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX17",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:05:15.538209Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.18",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox17 has been classified as Red List (Low Evidence).",
            "entity_name": "COX17",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:05:10.020813Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.100",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX17 as Red List (low evidence)",
            "entity_name": "COX17",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:05:10.013689Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.100",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX17",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:05:09.955821Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.100",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox17 has been classified as Red List (Low Evidence).",
            "entity_name": "COX17",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:47.463720Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.17",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX18 as Red List (low evidence)",
            "entity_name": "COX18",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:47.460011Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.17",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX18",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:47.427873Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.17",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox18 has been classified as Red List (Low Evidence).",
            "entity_name": "COX18",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:37.361735Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.99",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX18 as Red List (low evidence)",
            "entity_name": "COX18",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:37.356290Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.99",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX18",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:37.322787Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.99",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox18 has been classified as Red List (Low Evidence).",
            "entity_name": "COX18",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:17.697212Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.16",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX19 as Red List (low evidence)",
            "entity_name": "COX19",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:17.692348Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.16",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX19",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:17.646545Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.16",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox19 has been classified as Red List (Low Evidence).",
            "entity_name": "COX19",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:13.063551Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.98",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX19 as Red List (low evidence)",
            "entity_name": "COX19",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:13.056541Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.98",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX19",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:04:12.978578Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.98",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox19 has been classified as Red List (Low Evidence).",
            "entity_name": "COX19",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:03:50.750655Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.15",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX6B2 as Red List (low evidence)",
            "entity_name": "COX6B2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:03:50.746058Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.15",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX6B2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:03:50.696754Z",
            "panel_name": "Mitochondrial disorder with complex IV deficiency",
            "panel_id": 537,
            "panel_version": "3.15",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox6b2 has been classified as Red List (Low Evidence).",
            "entity_name": "COX6B2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:03:37.840011Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.97",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: COX6B2 as Red List (low evidence)",
            "entity_name": "COX6B2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:03:37.831415Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.97",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "COX6B2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:03:37.740376Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.97",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: cox6b2 has been classified as Red List (Low Evidence).",
            "entity_name": "COX6B2",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:01:17.285470Z",
            "panel_name": "Mitochondrial disorder with complex I deficiency",
            "panel_id": 534,
            "panel_version": "3.8",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: NDUFAF7 as Red List (low evidence)",
            "entity_name": "NDUFAF7",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:01:17.279499Z",
            "panel_name": "Mitochondrial disorder with complex I deficiency",
            "panel_id": 534,
            "panel_version": "3.8",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "NDUFAF7",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:01:17.235980Z",
            "panel_name": "Mitochondrial disorder with complex I deficiency",
            "panel_id": 534,
            "panel_version": "3.8",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: ndufaf7 has been classified as Red List (Low Evidence).",
            "entity_name": "NDUFAF7",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:01:10.947474Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.96",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: NDUFAF7 as Red List (low evidence)",
            "entity_name": "NDUFAF7",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:01:10.937655Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.96",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "NDUFAF7",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:01:10.900835Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.96",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: ndufaf7 has been classified as Red List (Low Evidence).",
            "entity_name": "NDUFAF7",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:00:34.270143Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.95",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: SDHAF3 as Red List (low evidence)",
            "entity_name": "SDHAF3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:00:34.266014Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.95",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Demoting from Amber to Red as this gene has not been associated with human disease.",
            "entity_name": "SDHAF3",
            "entity_type": "gene"
        },
        {
            "created": "2024-03-12T17:00:34.236982Z",
            "panel_name": "Possible mitochondrial disorder - nuclear genes",
            "panel_id": 539,
            "panel_version": "3.95",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: sdhaf3 has been classified as Red List (Low Evidence).",
            "entity_name": "SDHAF3",
            "entity_type": "gene"
        }
    ]
}