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{
    "count": 216156,
    "next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
    "previous": null,
    "results": [
        {
            "created": "2024-05-28T12:55:23.957189Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.7",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Classified gene: SLC35A3 as Amber List (moderate evidence)",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T12:55:23.951673Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.7",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: As reviewed by Hannah Knight, there are 12 affected individuals from four different families reported with biallelic SLC35A3 variants and arthrogryposis. Hence, this gene can be promoted to green rating in the next GMS review.",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T12:55:23.915554Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.7",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Gene: slc35a3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T12:48:51.580731Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.6",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553 to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T12:48:49.011516Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.5",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures  615553   to Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T12:48:34.519717Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.4",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Publications for gene: SLC35A3 were set to 24031089",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T12:48:03.367874Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.3",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: SLC35A3.\nTag Q2_24_NHS_review tag was added to gene: SLC35A3.",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T12:47:35.874394Z",
            "panel_name": "Arthrogryposis",
            "panel_id": 258,
            "panel_version": "6.3",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arthrogryposis, impaired intellectual development, and seizures, OMIM:615553; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "SLC35A3",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T09:29:27.283812Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "5.6",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Classified gene: PQLC2 as Amber List (moderate evidence)",
            "entity_name": "PQLC2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T09:29:27.277910Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "5.6",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: There are six unrelated families/ cases reported with biallelic SLC66A1 variants and retinal disorders. Hence, this gene should be promoted to green rating in the next GMS review.",
            "entity_name": "PQLC2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T09:29:27.240055Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "5.6",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Gene: pqlc2 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "PQLC2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T09:12:35.741925Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "5.5",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: PQLC2.",
            "entity_name": "PQLC2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T09:11:58.854334Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "5.5",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "commented on gene: PQLC2: HGNC Gene Symbol: SLC66A1. Hence, 'new-gene-name' tag added.",
            "entity_name": "PQLC2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T09:10:26.882696Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "5.5",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Tag new-gene-name tag was added to gene: PQLC2.",
            "entity_name": "PQLC2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T09:10:09.460188Z",
            "panel_name": "Retinal disorders",
            "panel_id": 307,
            "panel_version": "5.5",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "gene: PQLC2 was added\ngene: PQLC2 was added to Retinal disorders. Sources: Literature\nMode of inheritance for gene: PQLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PQLC2 were set to 35486108\nPhenotypes for gene: PQLC2 were set to Retinitis pigmentosa, MONDO:0019200\nReview for gene: PQLC2 was set to GREEN\nAdded comment: PMID:35486108 reported whole-exome sequencing with targeted analysis of SLC genes in 913 cases from 785 families with inherited retinal dystrophy. This identified 2 different homozygous variants in SLC66A1 in three individuals from two families with adult-onset retinal dystrophy.\r\n\r\nOlinger et al. (2024) (https://www.sciencedirect.com/science/article/pii/S2949774424009804) reported CNV analysis of trio and non-trio WGS data from Genomics England 100K genomes project. This identified homozygous 21kb deletion spanning nearly entire SLC66A1 gene in 2 siblings with adult-onset rod-cone dystrophy, while parents are heterozygous carriers. Review of cohort data then identified homozygous loss-of-function variants (1 nonsense, 2 frameshift) in another 3 unrelated individuals with rod-cone dystrophy.\r\n\r\nThis gene has not yet been associated with any relevant phenotypes either in OMIM or in Gene2Phenotype. \nSources: Literature",
            "entity_name": "PQLC2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T07:44:35.870162Z",
            "panel_name": "Paediatric or syndromic cardiomyopathy",
            "panel_id": 749,
            "panel_version": "4.6",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Classified gene: MT-TI as Amber List (moderate evidence)",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T07:44:35.865574Z",
            "panel_name": "Paediatric or syndromic cardiomyopathy",
            "panel_id": 749,
            "panel_version": "4.6",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: There are at least three unrelated cases reported with infantile-onset/ paediatric-onset cardiomyopathy and hence this gene can be promoted to green rating in the next GMS update.",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T07:44:35.836553Z",
            "panel_name": "Paediatric or syndromic cardiomyopathy",
            "panel_id": 749,
            "panel_version": "4.6",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Gene: mt-ti has been classified as Amber List (Moderate Evidence).",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T07:38:54.438911Z",
            "panel_name": "Paediatric or syndromic cardiomyopathy",
            "panel_id": 749,
            "panel_version": "4.5",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Phenotypes for gene: MT-TI were changed from  to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T07:38:44.592361Z",
            "panel_name": "Paediatric or syndromic cardiomyopathy",
            "panel_id": 749,
            "panel_version": "4.4",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Publications for gene: MT-TI were set to ",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T07:38:31.735188Z",
            "panel_name": "Paediatric or syndromic cardiomyopathy",
            "panel_id": 749,
            "panel_version": "4.3",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: MT-TI.",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-28T07:38:15.831613Z",
            "panel_name": "Paediatric or syndromic cardiomyopathy",
            "panel_id": 749,
            "panel_version": "4.3",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12767666, 21945886, 23332932, 29481798, 30025578; Phenotypes: familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333; Mode of inheritance: MITOCHONDRIAL",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T21:16:22.675214Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "5.5",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Classified gene: COL3A1 as Amber List (moderate evidence)",
            "entity_name": "COL3A1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T21:16:22.669965Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "5.5",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoting this gene to amber, with a recommendation for green rating following GMS review.",
            "entity_name": "COL3A1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T21:16:22.633056Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "5.5",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Gene: col3a1 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "COL3A1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T21:15:49.695224Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "5.4",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: COL3A1.",
            "entity_name": "COL3A1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T21:15:23.002789Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "5.4",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "changed review comment from: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. \r\n\r\nSeveral cases reported:\r\n\r\nPMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS.  The phenotype also included diffuse cortical dysplasia.  A  homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified.  Both parents were heterozygous for this variant. \r\n\r\nPMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants.   One sibling died suddenly due to extensive aortic dissection at age 15.  The younger sibling was  cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria \r\n\r\nPMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105).  The patient phenotype at birth was  bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. \r\n\r\nPMID: 28258187 - Vandervore et al 2017 - exome analysis of a family consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal. \r\n; to: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. \r\n\r\nSeveral cases reported:\r\n\r\nPMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS.  The phenotype also included diffuse cortical dysplasia.  A  homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified.  Both parents were heterozygous for this variant. \r\n\r\nPMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants.   One sibling died suddenly due to extensive aortic dissection at age 15.  The younger sibling was  cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria \r\n\r\nPMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105).  The patient phenotype at birth was  bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family (born of unrelated parents from Chechnya and Ingushetia), the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. \r\n\r\nPMID: 28258187 - Vandervore et al 2017 - exome analysis of a family with unrelated parents from the same mountain village in Chechnya, consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal. \r\n",
            "entity_name": "COL3A1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T21:11:32.346155Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "5.4",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "changed review comment from: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. \r\n\r\nSeveral cases reported:\r\n\r\nPMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS.  The phenotype also included diffuse cortical dysplasia.  A  homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified.  Both parents were heterozygous for this variant. \r\n\r\nPMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants.   One sibling died suddenly due to extensive aortic dissection at age 15.  The younger sibling was  cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria \nSources: Literature; to: Associated with Polymicrogyria with or without vascular-type EDS in OMIM (OMIM:618343) with a autosomal recessive mode of inheritance. \r\n\r\nSeveral cases reported:\r\n\r\nPMID: 19455184 Plancke et al 2009 - report an 11 year old female with consangiuneous parents, who had vascular EDS.  The phenotype also included diffuse cortical dysplasia.  A  homozygous nucleotide duplication (c.479dupT) in COL3A1 resulting in a premature termination codon (p.Lys161GlnfsX45) was identified.  Both parents were heterozygous for this variant. \r\n\r\nPMID: 25205403 Jørgensen et al 2015 - report 2 siblings who are compound heterozygous for COL3A1 sequence variants.   One sibling died suddenly due to extensive aortic dissection at age 15.  The younger sibling was  cerebral cortical dysplasia with thickened frontoparietal cortices bilaterally, small gyri and findings consistent with pachy micropolygyria \r\n\r\nPMID:28742248 - Horn et al 2017 identified biallelic COL3A1 variants in two unrelated families. A 3-year-old female with developmental delay was compound het for a nonsense variant c.1282C>T, p.(Arg428*) and a frameshift variant c.2057delC, p.(Pro686Leufs*105).  The patient phenotype at birth was  bilateral clubfoot, joint laxity, and dysmorphic facial features an at age 2 years cerebral MRI showed a profound cerebral abnormalities including bilateral frontoparietal polymicrogyria of the cobblestone variant. In the second family, the two affected siblings were homozygous for the missense variant c.145C<G, p.(Pro49Ala) of COL3A1 and showed cobblestone-like cortical malformation, cerebellar cysts, and white matter abnormalities, developmental delay, and seizures. \r\n\r\nPMID: 28258187 - Vandervore et al 2017 - exome analysis of a family consisting of two affected and two non-affected siblings identified a novel homozygous variant c.145C>G (p.Pro49Ala) in exon 2 of COL3A1 in the affected siblings. Both patients had cobblestone-like malformation of the cortex and the white matter was severely abnormal. \r\n",
            "entity_name": "COL3A1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T09:14:20.472758Z",
            "panel_name": "Monogenic hearing loss",
            "panel_id": 126,
            "panel_version": "4.41",
            "user_name": "Barbara Vona",
            "item_type": "entity",
            "text": "reviewed gene: MYO1A: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 24616153; Phenotypes: ; Mode of inheritance: Other",
            "entity_name": "MYO1A",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-25T09:11:01.950612Z",
            "panel_name": "Monogenic hearing loss",
            "panel_id": 126,
            "panel_version": "4.41",
            "user_name": "Barbara Vona",
            "item_type": "entity",
            "text": "gene: PKHD1L1 was added\ngene: PKHD1L1 was added to Monogenic hearing loss. Sources: Literature\nMode of inheritance for gene: PKHD1L1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PKHD1L1 were set to PMID: 38459354\nPhenotypes for gene: PKHD1L1 were set to Hearing loss\nPenetrance for gene: PKHD1L1 were set to Complete\nReview for gene: PKHD1L1 was set to GREEN\ngene: PKHD1L1 was marked as current diagnostic\nAdded comment: Through exome sequencing of four probands with autosomal recessive non-syndromic sensorineural hearing loss, biallelic variants were identified in PKHD1L1 (Redfield et al., 2024; PMID: 38459354). Hearing loss was of highly variable severities and ranged from mild to profound. It had a congenital (or suspected congenital) onset and was progressive. This work benefitted from two previously published models: a mouse model, showing progressive hearing loss in homozygous conditional knockout animals (Wu et al., 2019; PMID: 31444330) and a zebrafish study with zebrafish homozygous for knockout of both pkhd1l1-alpha and -beta having deficits in auditory startle response (Makrogkikas et al., 2023; PMID: 36960824). PKHD1L1 has been curated in OMIM as causing Autosomal Recessive Deafness 124 (DFNB124). Note that PKHD1L1 is a rather large gene, so variants should be carefully assessed for pathogenicity. \nSources: Literature",
            "entity_name": "PKHD1L1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-24T12:46:39.777492Z",
            "panel_name": "Laterality disorders and isomerism",
            "panel_id": 549,
            "panel_version": "3.10",
            "user_name": "Nour Elkhateeb",
            "item_type": "entity",
            "text": "changed review comment from: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 38649918. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546). \nSources: Literature; to: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 23849777. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546). \r\nSources: Literature",
            "entity_name": "ARL2BP",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-24T12:32:48.086696Z",
            "panel_name": "Laterality disorders and isomerism",
            "panel_id": 549,
            "panel_version": "3.10",
            "user_name": "Nour Elkhateeb",
            "item_type": "entity",
            "text": "gene: ARL2BP was added\ngene: ARL2BP was added to Laterality disorders and isomerism. Sources: Literature\nMode of inheritance for gene: ARL2BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARL2BP were set to 36507858; 38649918; 38649918\nPhenotypes for gene: ARL2BP were set to Situs Inversus\nReview for gene: ARL2BP was set to GREEN\nAdded comment: Biallelic ARL2BP variants are reported to be associated with Retinitis pigmentosa with or without situs inversus. Situs inversus is reported in several reports including PMID 36507858, 38649918, 38649918. ARL2BP is a ciliary gene associated with multiple ciliopathy phenotypes. ARL2BP murine knockout model showed similar phenotypes to humans, including retinal degeneration, immotile sperm cells and impaired spermatogenesis, as well as situs inversus and increased brain ventricular volume (PMID: 31425546). \nSources: Literature",
            "entity_name": "ARL2BP",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-23T20:59:10.687637Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "6.13",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "commented on gene: RNU4-2",
            "entity_name": "RNU4-2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T15:00:27.313791Z",
            "panel_name": "Hypertrophic cardiomyopathy",
            "panel_id": 49,
            "panel_version": "4.12",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Classified gene: MT-TI as Amber List (moderate evidence)",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T15:00:27.305201Z",
            "panel_name": "Hypertrophic cardiomyopathy",
            "panel_id": 49,
            "panel_version": "4.12",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: There are at least four unrelated cases with hypertrophic cardiomyopathy and hence this gene can be promoted to green rating in the next GMS review.",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T15:00:27.269944Z",
            "panel_name": "Hypertrophic cardiomyopathy",
            "panel_id": 49,
            "panel_version": "4.12",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Gene: mt-ti has been classified as Amber List (Moderate Evidence).",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T14:59:11.404017Z",
            "panel_name": "Hypertrophic cardiomyopathy",
            "panel_id": 49,
            "panel_version": "4.11",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Phenotypes for gene: MT-TI were changed from  to familial hypertrophic cardiomyopathy, MONDO:0024573; familial dilated cardiomyopathy, MONDO:0016333",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T14:58:53.953080Z",
            "panel_name": "Hypertrophic cardiomyopathy",
            "panel_id": 49,
            "panel_version": "4.10",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Publications for gene: MT-TI were set to 12767666; 30025578",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T14:58:29.007282Z",
            "panel_name": "Hypertrophic cardiomyopathy",
            "panel_id": 49,
            "panel_version": "4.9",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: MT-TI.",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T14:58:10.130243Z",
            "panel_name": "Hypertrophic cardiomyopathy",
            "panel_id": 49,
            "panel_version": "4.9",
            "user_name": "Achchuthan Shanmugasundram",
            "item_type": "entity",
            "text": "reviewed gene: MT-TI: Rating: GREEN; Mode of pathogenicity: None; Publications: 12767666, 21945886, 23332932, 29481798, 30025578; Phenotypes: familial hypertrophic cardiomyopathy, MONDO:0024573, familial dilated cardiomyopathy, MONDO:0016333; Mode of inheritance: MITOCHONDRIAL",
            "entity_name": "MT-TI",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T08:30:38.580717Z",
            "panel_name": "Inherited pancreatic cancer",
            "panel_id": 524,
            "panel_version": "2.3",
            "user_name": "Terri McVeigh",
            "item_type": "entity",
            "text": "gene: ATM was added\ngene: ATM was added to Inherited pancreatic cancer. Sources: Other\nMode of inheritance for gene: ATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATM were set to 34529012; 33509806\nPhenotypes for gene: ATM were set to Breast, prostate, pancreatic cancer predisposition; recessive trait for ataxia telangiectasia\nPenetrance for gene: ATM were set to Incomplete\nMode of pathogenicity for gene: ATM was set to Other\nReview for gene: ATM was set to GREEN\nAdded comment: Discussed at UKCGG/Cancer Leads meeting 29th February 2024 - consensus that ATM should be added to this panel for diagnostic testing in individuals with pancreatic cancer fulfilling eligibility criteria. Reporting of variants should be restricted to truncating variants, high-risk missense c.7271T/G and exceptional variants as determined by Can-VIG UK, as per other panels where ATM is tested for cancer predisposition (R208/430) \nSources: Other",
            "entity_name": "ATM",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-22T08:25:43.070658Z",
            "panel_name": "Inherited pancreatic cancer",
            "panel_id": 524,
            "panel_version": "2.3",
            "user_name": "Terri McVeigh",
            "item_type": "entity",
            "text": "reviewed gene: STK11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33513864, 11113065, 16707622, 23240097, 23415580; Phenotypes: Peutz-Jeghers syndrome; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "STK11",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-21T11:53:33.542504Z",
            "panel_name": "Severe Paediatric Disorders",
            "panel_id": 921,
            "panel_version": "1.184",
            "user_name": "Tracy Lester",
            "item_type": "entity",
            "text": "reviewed gene: KLF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "KLF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-21T10:07:40.393121Z",
            "panel_name": "Severe Paediatric Disorders",
            "panel_id": 921,
            "panel_version": "1.184",
            "user_name": "Tracy Lester",
            "item_type": "entity",
            "text": "reviewed gene: PCSK9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "PCSK9",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-20T12:24:56.991550Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "4.24",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "edited their review of gene: FHL1: Changed rating: GREEN",
            "entity_name": "FHL1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-20T12:24:48.388617Z",
            "panel_name": "Congenital muscular dystrophy",
            "panel_id": 207,
            "panel_version": "4.24",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "changed review comment from: In response to Zornitza Starks' review, Helen Brittain (Genomics England Clinical Fellow) was asked the following question: are the phenotypes of Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (OMIM:300717) and/or Reducing body myopathy, X-linked 1b, with late childhood or adult onset (OMIM:300718), which are associated with FHL1 variants, appropriate for this panel - Congenital muscular dystrophy (R79)?\r\nHelen Brittain replied that in PMID: 19181672,  the patients present with weakness and a raised CK - this would make clinicians think of a muscular dystrophy primarily. Although technically it may be a myopathy, I think it is enough of a mimic to be included on both the dystrophy and myopathy panels. Therefore this gene should remain green on Congenital muscular dystrophy; to: In response to Zornitza Starks' review, Helen Brittain (Genomics England Clinical Fellow) was asked the following question: are the phenotypes of Reducing body myopathy, X-linked 1a, severe, infantile or early childhood onset (OMIM:300717) and/or Reducing body myopathy, X-linked 1b, with late childhood or adult onset (OMIM:300718), which are associated with FHL1 variants, appropriate for this panel - Congenital muscular dystrophy (R79)?\r\nHelen Brittain replied that in PMID: 19181672,  the patients present with weakness and a raised CK - this would make clinicians think of a muscular dystrophy primarily. Although technically it may be a myopathy, I think it is enough of a mimic to be included on both the dystrophy and myopathy panels. Therefore this gene should remain green on Congenital muscular dystrophy",
            "entity_name": "FHL1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-16T14:09:28.796099Z",
            "panel_name": "Severe Paediatric Disorders",
            "panel_id": 921,
            "panel_version": "1.184",
            "user_name": "Tracy Lester",
            "item_type": "entity",
            "text": "reviewed gene: DPP6: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "DPP6",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-16T10:32:41.980483Z",
            "panel_name": "Cleidocranial Dysplasia",
            "panel_id": 1315,
            "panel_version": "1.1",
            "user_name": "Alistair Pagnamenta",
            "item_type": "entity",
            "text": "gene: CBFB was added\ngene: CBFB was added to Cleidocranial Dysplasia. Sources: Literature\nMode of inheritance for gene: CBFB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CBFB were set to PMID: 36241386\nPhenotypes for gene: CBFB were set to cleidocranial dysplasia; dental anomalies such as supernumery teeth and eruption failure; developmental delay (variable); shortening of the distal phalanges\nPenetrance for gene: CBFB were set to Complete\nReview for gene: CBFB was set to GREEN\ngene: CBFB was marked as current diagnostic\nAdded comment: Beyltjens et al describe 8 individuals from 5 families (ascertained via GeneMatcher) with cleidocranial dysplasia and rare severe consequence variants in CBFB. Previous analysis of RUNX2 had been negative. CBFB encodes the core-binding factor β subunit, which can interact with RUNX2 to form a heterodimeric transcription factor - so biologically was a good candidate gene, even before the Beyltjens et al study. Aware of data in 100kGP that supports this new gene-disease association. \nSources: Literature",
            "entity_name": "CBFB",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-15T14:17:56.198721Z",
            "panel_name": "Dilated and arrhythmogenic cardiomyopathy",
            "panel_id": 652,
            "panel_version": "2.25",
            "user_name": "Mike Spiller",
            "item_type": "entity",
            "text": "reviewed gene: PRDM16: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "PRDM16",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-15T08:10:42.304827Z",
            "panel_name": "Autoinflammatory disorders",
            "panel_id": 1075,
            "panel_version": "2.1",
            "user_name": "Hannah Knight",
            "item_type": "entity",
            "text": "gene: OGFRL1 was added\ngene: OGFRL1 was added to Autoinflammatory disorders. Sources: Literature\nMode of inheritance for gene: OGFRL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: OGFRL1 were set to PMID: 38699440\nPhenotypes for gene: OGFRL1 were set to Cherubism\nReview for gene: OGFRL1 was set to AMBER\nAdded comment: PMID: 38699440 (2024) identified two different homozygous LOF mutations in two unrelated families with cherubism. Functional work carried out, but inconclusive - mouse model did not recapitulate human cherubism \nSources: Literature",
            "entity_name": "OGFRL1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-14T17:09:22.399324Z",
            "panel_name": "Adult onset hereditary spastic paraplegia",
            "panel_id": 567,
            "panel_version": "4.3",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "changed review comment from: The mode of inheritance of this gene has been updated to SPG7 following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal, following NHS Genomic Medicine Service approval.",
            "entity_name": "SPG7",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T13:03:58.183117Z",
            "panel_name": "Adult onset hereditary spastic paraplegia",
            "panel_id": 567,
            "panel_version": "4.3",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "changed review comment from: The mode of inheritance of this gene has been updated to XX following NHS Genomic Medicine Service approval.; to: The mode of inheritance of this gene has been updated to SPG7 following NHS Genomic Medicine Service approval.",
            "entity_name": "SPG7",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:21:52.658337Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_NHS_review tag was added to gene: RTN2.",
            "entity_name": "RTN2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:13:12.516443Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green was removed from gene: SPTBN4.\nTag Q2_24_NHS_review was removed from gene: SPTBN4.",
            "entity_name": "SPTBN4",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:08:59.830572Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: ABHD12.\nTag Q2_24_NHS_review tag was added to gene: ABHD12.",
            "entity_name": "ABHD12",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:08:46.526797Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: AGXT.\nTag Q2_24_NHS_review tag was added to gene: AGXT.",
            "entity_name": "AGXT",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:08:34.553650Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: APOA1.\nTag Q2_24_NHS_review tag was added to gene: APOA1.",
            "entity_name": "APOA1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:08:18.429411Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: B4GALNT1.\nTag Q2_24_NHS_review tag was added to gene: B4GALNT1.",
            "entity_name": "B4GALNT1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:08:04.439378Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: BCKDHB.\nTag Q2_24_NHS_review tag was added to gene: BCKDHB.",
            "entity_name": "BCKDHB",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:07:49.530158Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: FXN.\nTag Q2_24_NHS_review tag was added to gene: FXN.",
            "entity_name": "FXN",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:07:27.882148Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: GALC.\nTag Q2_24_NHS_review tag was added to gene: GALC.",
            "entity_name": "GALC",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:07:11.928351Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: GBA2.\nTag Q2_24_NHS_review tag was added to gene: GBA2.",
            "entity_name": "GBA2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:06:56.642947Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: IARS2.\nTag Q2_24_NHS_review tag was added to gene: IARS2.",
            "entity_name": "IARS2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:06:42.682321Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: LYST.\nTag Q2_24_NHS_review tag was added to gene: LYST.",
            "entity_name": "LYST",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:06:27.584875Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: MMACHC.\nTag Q2_24_NHS_review tag was added to gene: MMACHC.",
            "entity_name": "MMACHC",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:06:13.464634Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: MTTP.\nTag Q2_24_NHS_review tag was added to gene: MTTP.",
            "entity_name": "MTTP",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:05:58.608005Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: NAGA.\nTag Q2_24_NHS_review tag was added to gene: NAGA.",
            "entity_name": "NAGA",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:05:44.675877Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: PDYN.\nTag Q2_24_NHS_review tag was added to gene: PDYN.",
            "entity_name": "PDYN",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:05:28.849620Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: PEX10.\nTag Q2_24_NHS_review tag was added to gene: PEX10.",
            "entity_name": "PEX10",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:05:15.185445Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: PEX7.\nTag Q2_24_NHS_review tag was added to gene: PEX7.",
            "entity_name": "PEX7",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:04:59.597754Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: PLP1.\nTag Q2_24_NHS_review tag was added to gene: PLP1.",
            "entity_name": "PLP1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:04:44.624856Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: PMM2.\nTag Q2_24_NHS_review tag was added to gene: PMM2.",
            "entity_name": "PMM2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:04:32.623746Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: PNPLA6.\nTag Q2_24_NHS_review tag was added to gene: PNPLA6.",
            "entity_name": "PNPLA6",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:04:18.788332Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: POLR3A.\nTag Q2_24_NHS_review tag was added to gene: POLR3A.",
            "entity_name": "POLR3A",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:03:29.348428Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: SACS.\nTag Q2_24_NHS_review tag was added to gene: SACS.",
            "entity_name": "SACS",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:02:55.348409Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: SCARB2.\nTag Q2_24_NHS_review tag was added to gene: SCARB2.",
            "entity_name": "SCARB2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:02:15.415560Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: SLC25A19.\nTag Q2_24_NHS_review tag was added to gene: SLC25A19.",
            "entity_name": "SLC25A19",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:01:51.111438Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: SPTBN4.\nTag Q2_24_NHS_review tag was added to gene: SPTBN4.",
            "entity_name": "SPTBN4",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:01:30.979622Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: SURF1.\nTag Q2_24_NHS_review tag was added to gene: SURF1.",
            "entity_name": "SURF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T09:00:34.077395Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: TYMP.\nTag Q2_24_NHS_review tag was added to gene: TYMP.",
            "entity_name": "TYMP",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:58:33.677474Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q2_24_promote_green tag was added to gene: XK.\nTag Q2_24_NHS_review tag was added to gene: XK.",
            "entity_name": "XK",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:09.237908Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: XK: Rating: GREEN; Mode of pathogenicity: ; Publications: 8619554, 11261514; Phenotypes: McLeod syndrome, OMIM:300842; 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": "XK",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:09.212221Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: TYMP: Rating: GREEN; Mode of pathogenicity: ; Publications: 14757860, 12177387, 9924029; Phenotypes: Mitochondrial DNA depletion syndrome 1 (MNGIE type), OMIM:603041; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "TYMP",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:09.184863Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: SURF1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4K, OMIM:616684, Mitochondrial complex IV deficiency, nuclear type 1, OMIM:220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "SURF1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:09.116230Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "edited their review of gene: SPTBN4: Added comment: At least six SPTBN4 variants have been associated with OMIM:617519, which includes axonal and demyelinating peripheral neuropathy as one of the clinical features.  Six SPTBN4 variants have been reported by PMID: 28540413;29861105 in five unrelated cases of OMIM:617519.; Changed rating: GREEN; Changed publications to: 28540413, 29861105; Changed phenotypes to: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness, OMIM:617519; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "SPTBN4",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:09.093751Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: SLC25A19: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 4 (progressive polyneuropathy type), OMIM:613710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "SLC25A19",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:09.057787Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: SCARB2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Epilepsy, progressive myoclonic 4, with or without renal failure, OMIM:254900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "SCARB2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:09.031411Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: SACS: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic ataxia, Charlevoix-Saguenay type, OMIM:270550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "SACS",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.909537Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Wiedemann-Rautenstrauch syndrome, OMIM:264090, Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism OMIM:607694; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "POLR3A",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.888147Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Oliver-McFarlane syndrome, OMIM:275400, Spastic paraplegia 39, autosomal recessive, OMIM:612020, Boucher-Neuhauser syndrome, OMIM:215470; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "PNPLA6",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.863669Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Congenital disorder of glycosylation, type Ia, OMIM:212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "PMM2",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.841856Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: PLP1: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Spastic paraplegia 2, X-linked, OMIM:312920, Pelizaeus-Merzbacher disease, OMIM:312080; 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": "PLP1",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.810879Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: PEX7: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 9B, OMIM:14879; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "PEX7",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.780510Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: PEX10: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Peroxisome biogenesis disorder 6A (Zellweger), OMIM:614870, Peroxisome biogenesis disorder 6B, OMIM:614871; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "PEX10",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.758395Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: PDYN: Rating: GREEN; Mode of pathogenicity: ; Publications: 21035104; Phenotypes: Spinocerebellar ataxia 23, OMIM:610245; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
            "entity_name": "PDYN",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.736615Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: NAGA: Rating: GREEN; Mode of pathogenicity: ; Publications: 8782044, 11251574; Phenotypes: Kanzaki disease, OMIM:609242; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "NAGA",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.711100Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: MTTP: Rating: GREEN; Mode of pathogenicity: ; Publications: 8361539, 10446076, 8111381; Phenotypes: Abetalipoproteinemia, OMIM:200100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "MTTP",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.686332Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: MMACHC: Rating: GREEN; Mode of pathogenicity: ; Publications: 17431913, 16311595, 19370762; Phenotypes: Methylmalonic aciduria and homocystinuria, cblC type, OMIM:277400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "MMACHC",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.660403Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: LYST: Rating: GREEN; Mode of pathogenicity: ; Publications: 9215680, 8896560, 9215679, 11857544; Phenotypes: Chediak-Higashi syndrome, OMIM:214500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "LYST",
            "entity_type": "gene"
        },
        {
            "created": "2024-05-13T08:57:08.602139Z",
            "panel_name": "Hereditary neuropathy or pain disorder",
            "panel_id": 846,
            "panel_version": "4.11",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: IARS2: Rating: GREEN; Mode of pathogenicity: ; Publications: ; Phenotypes: Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, OMIM:616007; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "IARS2",
            "entity_type": "gene"
        }
    ]
}