GET /api/v1/activities/?page=3
HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept

{
    "count": 177481,
    "next": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=4",
    "previous": "https://panelapp.genomicsengland.co.uk/api/v1/activities/?page=2",
    "results": [
        {
            "created": "2021-11-29T13:48:10.385820Z",
            "panel_name": "Skeletal dysplasia",
            "panel_id": 309,
            "panel_version": "2.159",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome to Martsolf syndrome 1, OMIM:212720",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T13:47:32.124012Z",
            "panel_name": "Skeletal dysplasia",
            "panel_id": 309,
            "panel_version": "2.158",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Mode of inheritance for gene: RAB3GAP2 was changed from  to BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T13:47:08.771753Z",
            "panel_name": "Dilated Cardiomyopathy and conduction defects",
            "panel_id": 47,
            "panel_version": "1.75",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: RAB3GAP2 were changed from 212720; 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T13:46:39.107287Z",
            "panel_name": "Corneal abnormalities",
            "panel_id": 250,
            "panel_version": "1.10",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome \t212720; Warburg micro syndrome 2  614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T13:46:06.594641Z",
            "panel_name": "Structural eye disease",
            "panel_id": 509,
            "panel_version": "1.94",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, 212720; Warburg micro syndrome 2, 614225; Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; Warburg Micro Syndrome to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T13:45:54.029759Z",
            "panel_name": "Anophthalmia or microphthalmia",
            "panel_id": 34,
            "panel_version": "1.43",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: RAB3GAP2 were changed from Warburg Micro Syndrome; Martsolf syndrome, 212720Warburg micro syndrome 2, 614225 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T13:45:10.652106Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1472",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome, 212720Warburg micro syndrome 2, 614225; MARTSOLF SYNDROME (MARTS) to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T13:45:04.921100Z",
            "panel_name": "Cataracts",
            "panel_id": 230,
            "panel_version": "2.90",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: RAB3GAP2 were changed from Martsolf syndrome; Warburg micro syndrome 2; Warburg Micro syndrome-2 to Martsolf syndrome 1, OMIM:212720; Warburg micro syndrome 2, OMIM:614225",
            "entity_name": "RAB3GAP2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T12:06:12.172107Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.278",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: MAPK8IP3 as Amber List (moderate evidence)",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T12:06:12.168531Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.278",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 3 subjects displayed cerebellar atrophy on brain MRI and 2 had ataxia. Onset in childhood. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T12:06:12.139857Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.278",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T12:03:52.145929Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.130",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: MAPK8IP3 as Green List (high evidence)",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T12:03:52.142524Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.130",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 3 subjects displayed cerebellar atrophy on brain MRI and 2 had ataxia. However, this is a childhood onset condition and literature search did not reveal any evidence of adult onset ataxia associated with this gene. Therefore, MAPK8IP3 should be downgraded from Green here and added to the childhood cerebellar anomalies panel.",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T12:03:52.115545Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.130",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: mapk8ip3 has been classified as Green List (High Evidence).",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:57:44.873086Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.277",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Entity copied from Hereditary ataxia - adult onset v2.129",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:57:44.805901Z",
            "panel_name": "Ataxia and cerebellar anomalies - narrow panel",
            "panel_id": 477,
            "panel_version": "2.277",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "gene: MAPK8IP3 was added\ngene: MAPK8IP3 was added to Ataxia and cerebellar anomalies - narrow panel. Sources: Wessex and West Midlands GLH,Expert Review Green,NHS GMS\nQ4_21_rating tags were added to gene: MAPK8IP3.\nMode of inheritance for gene: MAPK8IP3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAPK8IP3 were set to 30612693; 30945334\nPhenotypes for gene: MAPK8IP3 were set to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:57:43.753035Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.129",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Publications for gene: MAPK8IP3 were updated from  to 30612693; 30945334\nTag Q4_21_rating tag was added to MAPK8IP3.",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:57:30.307211Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.117",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: MAPK8IP3 were changed from Neurodevelopmental disorder with or without variable brain abnormalities, MIM#\t618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:56:42.804213Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.116",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: MAPK8IP3.",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:56:33.577128Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.116",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: MAPK8IP3 as Amber List (moderate evidence)",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:56:33.574443Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.116",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334) of which 8 subjects presented with spasticity, among other features. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:56:33.552209Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.116",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:47:54.291282Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.97",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: MAPK8IP3.",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:47:44.918877Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.97",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Publications for gene: MAPK8IP3 were set to 30612693",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:47:39.336375Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.96",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: MAPK8IP3 as Amber List (moderate evidence)",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:47:39.332712Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.96",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: 18 individuals from 17 families reported with de novo variants in this gene (PMIDs: 30612693; 30945334). Various brain malformations affecting both cerebral and cerebellar structures identified in all except four individuals. Overall there is sufficient evidence to promote this gene to Green at the next GMS panel update.",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:47:39.301970Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.96",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: mapk8ip3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:20:38.971502Z",
            "panel_name": "Intellectual disability",
            "panel_id": 285,
            "panel_version": "3.1471",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: MAPK8IP3 were changed from Abnormal muscle tone; Global developmental delay; Intellectual disability; Abnormality of nervous system morphology; Neurodevelopmental disorder with or without variable brain abnormalities, 618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:20:38.360053Z",
            "panel_name": "Hereditary ataxia - adult onset",
            "panel_id": 466,
            "panel_version": "2.128",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: MAPK8IP3 were changed from Intellectual Disability with variable brain anomalies; Neurodevelopmental disorder with or without variable brain abnormalities, 618443 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-29T11:18:32.905151Z",
            "panel_name": "Malformations of cortical development",
            "panel_id": 96,
            "panel_version": "2.95",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: MAPK8IP3 were changed from Neurodevelopmental disorder with or without variable brain abnormalities OMIM# 605431 to Neurodevelopmental disorder with or without variable brain abnormalities, OMIM:618443",
            "entity_name": "MAPK8IP3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-28T13:59:01.176990Z",
            "panel_name": "Limb girdle muscular dystrophy",
            "panel_id": 185,
            "panel_version": "2.32",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: CAPN3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32896923; Phenotypes: limb girdle muscle dystrophy; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "CAPN3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-28T13:48:09.564183Z",
            "panel_name": "Distal myopathies",
            "panel_id": 235,
            "panel_version": "1.38",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: SMPX was added\ngene: SMPX was added to Distal myopathies. Sources: Literature\nMode of inheritance for gene: SMPX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SMPX were set to PMID: 33974137\nPhenotypes for gene: SMPX were set to Distal myopathy\nPenetrance for gene: SMPX were set to unknown\nMode of pathogenicity for gene: SMPX was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: SMPX was set to GREEN\nAdded comment: Hemizygous variants in 10 patients from 9 families with functional data. \nSources: Literature",
            "entity_name": "SMPX",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-28T13:43:55.948144Z",
            "panel_name": "Congenital myopathy",
            "panel_id": 225,
            "panel_version": "2.68",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "reviewed gene: ACTN2: Rating: ; Mode of pathogenicity: None; Publications: PMID: 34471957; Phenotypes: ; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "ACTN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-28T13:43:11.033504Z",
            "panel_name": "Limb girdle muscular dystrophy",
            "panel_id": 185,
            "panel_version": "2.32",
            "user_name": "Dmitrijs Rots",
            "item_type": "entity",
            "text": "gene: ACTN2 was added\ngene: ACTN2 was added to Limb girdle muscular dystrophy. Sources: Literature\nMode of inheritance for gene: ACTN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ACTN2 were set to PMID: 34471957; 30701273; 30900782\nPhenotypes for gene: ACTN2 were set to Muscular dystrophy; hyperCKemia\nPenetrance for gene: ACTN2 were set to unknown\nReview for gene: ACTN2 was set to GREEN\nAdded comment: Multiple individuals from multiple families reported suggesting ACTN2 as both, monoallelic and biallelic cause of muscular dysctrophy. \nSources: Literature",
            "entity_name": "ACTN2",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-26T13:09:17.850477Z",
            "panel_name": "Erythropoietic protoporphyria, mild variant",
            "panel_id": 91,
            "panel_version": "1.2",
            "user_name": "Aleš Maver",
            "item_type": "entity",
            "text": "gene: CLPX was added\ngene: CLPX was added to Erythropoietic protoporphyria, mild variant. Sources: Other\nMode of inheritance for gene: CLPX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CLPX were set to 28874591\nPenetrance for gene: CLPX were set to unknown\nMode of pathogenicity for gene: CLPX was set to Other\nReview for gene: CLPX was set to RED\nAdded comment: Entry is based on a single report (PMID: 28874591) of a novel missense variant in CPLX gene (p.Gly298Asp) in a family with erythropoietic protoporphyria. The mutation is reported to occur in the ATPase active site of human CLPX, p.Gly298Asp, and it stated by authors that it results in pathological accumulation of the heme biosynthesis intermediate protoporphyrin IX (PPIX).Three heterozygous members of the family are reported - the proband is affected, while the two relatives have been reported to have free and zinc-PPIX accumulation in erythrocytes and associated mild photosensitivity, but are without the complete clinical symptoms of EPP. \nSources: Other",
            "entity_name": "CLPX",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:56:01.423057Z",
            "panel_name": "Lipoprotein lipase deficiency",
            "panel_id": 527,
            "panel_version": "1.19",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "reviewed gene: APOB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
            "entity_name": "APOB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:40:42.204931Z",
            "panel_name": "Inborn errors of metabolism",
            "panel_id": 467,
            "panel_version": "2.202",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "edited their review of gene: APOB: Added comment: The mode of inheritance for APOB should be both monoallelic and biallelic, as Hypercholesterolemia, familial, 2 OMIM:144010 is monoallelic and Hypobetalipoproteinemia OMIM:615558 is biallelic.; Changed rating: GREEN; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "APOB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:40:01.365018Z",
            "panel_name": "Undiagnosed metabolic disorders",
            "panel_id": 302,
            "panel_version": "1.500",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "edited their review of gene: APOB: Added comment: The mode of inheritance for APOB should be both monoallelic and biallelic, as Hypercholesterolemia, familial, 2 OMIM:144010 is monoallelic and Hypobetalipoproteinemia OMIM:615558 is biallelic.; Changed rating: GREEN; Changed mode of pathogenicity: Other; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
            "entity_name": "APOB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:39:10.119201Z",
            "panel_name": "Rare genetic inflammatory skin disorders",
            "panel_id": 565,
            "panel_version": "1.45",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Classified gene: ECM1 as Amber List (moderate evidence)",
            "entity_name": "ECM1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:39:10.115932Z",
            "panel_name": "Rare genetic inflammatory skin disorders",
            "panel_id": 565,
            "panel_version": "1.45",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoting from grey to amber, with a recommendation for a GREEN rating following GMS review.  More than 3 cases reported with a plausible disease causing variant in the ECM1 gene and a Lipoid proteinosis phenotype.",
            "entity_name": "ECM1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:39:10.096786Z",
            "panel_name": "Rare genetic inflammatory skin disorders",
            "panel_id": 565,
            "panel_version": "1.45",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Gene: ecm1 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "ECM1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:38:10.290124Z",
            "panel_name": "Rare genetic inflammatory skin disorders",
            "panel_id": 565,
            "panel_version": "1.44",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Phenotypes for gene: ECM1 were changed from Urbach-Wiethe disease to Urbach-Wiethe disease, OMIM:247100; lipoid proteinosis, MONDO:0009530",
            "entity_name": "ECM1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:38:00.905609Z",
            "panel_name": "Rare genetic inflammatory skin disorders",
            "panel_id": 565,
            "panel_version": "1.43",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Publications for gene: ECM1 were set to 11929856",
            "entity_name": "ECM1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:37:49.222490Z",
            "panel_name": "Rare genetic inflammatory skin disorders",
            "panel_id": 565,
            "panel_version": "1.42",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: ECM1.\nTag Q4_21_NHS_review tag was added to gene: ECM1.",
            "entity_name": "ECM1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:37:30.501073Z",
            "panel_name": "Rare genetic inflammatory skin disorders",
            "panel_id": 565,
            "panel_version": "1.42",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "reviewed gene: ECM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11929856, 28720532, 33159951; Phenotypes: Urbach-Wiethe disease, OMIM:247100, lipoid proteinosis, MONDO:0009530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
            "entity_name": "ECM1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:34:50.688848Z",
            "panel_name": "Undiagnosed metabolic disorders",
            "panel_id": 302,
            "panel_version": "1.500",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q4_21_MOI tag was added to gene: APOB.",
            "entity_name": "APOB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:34:14.307434Z",
            "panel_name": "Undiagnosed metabolic disorders",
            "panel_id": 302,
            "panel_version": "1.500",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252",
            "entity_name": "APOB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:33:43.419829Z",
            "panel_name": "Inborn errors of metabolism",
            "panel_id": 467,
            "panel_version": "2.202",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Phenotypes for gene: APOB were changed from Hypercholesterolemia, familial, 2 144010; Hypobetalipoproteinemia 615558 to Hypercholesterolemia, familial, 2 OMIM:144010; hypercholesterolemia, autosomal dominant, type B MONDO:0007751; Hypobetalipoproteinemia OMIM:615558; familial hypobetalipoproteinemia 1 MONDO:0014252",
            "entity_name": "APOB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T17:30:54.217412Z",
            "panel_name": "Inborn errors of metabolism",
            "panel_id": 467,
            "panel_version": "2.201",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Tag Q4_21_MOI tag was added to gene: APOB.",
            "entity_name": "APOB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:55:33.673129Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_NHS_review tag was added to gene: PORCN.",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:54:49.306365Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_NHS_review tag was added to gene: PTPN11.",
            "entity_name": "PTPN11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:51:38.602155Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_NHS_review tag was added to gene: BRAF.",
            "entity_name": "BRAF",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:48:48.711040Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_expert_review tag was added to gene: NOTCH3.\nTag Q4_21_NHS_review tag was added to gene: NOTCH3.",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:48:31.401682Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "changed review comment from: Comment on list classification: Promoting from grey to amber. 1 case plus functional studies supporting the role of the reported NOTCH3 variant in disease.; to: Comment on list classification: Promoting from grey to amber. 1 case plus functional studies supporting the role of the reported NOTCH3 variant in disease. Note the eligibility criteria for the clinical indication will need to be expanded before promoting to green.",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:47:30.769233Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Classified gene: PDGFRB as Amber List (moderate evidence)",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:47:30.765977Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoting this gene from grey (curator removed) to amber, with a green rating recommendation if approved by the GMS.  Note the eligibility criteria for the clinical indication will need to be expanded before promoting to green.",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:47:30.747406Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Gene: pdgfrb has been classified as Amber List (Moderate Evidence).",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:46:13.458202Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.17",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag curated_removed was removed from gene: PDGFRB.",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:43:55.904121Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.17",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Phenotypes for gene: PDGFRB were changed from Infantile myofibromatosis to Myofibromatosis, infantile, 1, OMIM:228550; myofibromatosis, infantile, 1, MONDO:0009227",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:42:07.702473Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.16",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Publications for gene: PDGFRB were set to ",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:41:44.615842Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_expert_review tag was added to gene: PDGFRB.\nTag Q4_21_rating tag was added to gene: PDGFRB.\nTag Q4_21_phenotype tag was added to gene: PDGFRB.\nTag Q4_21_NHS_review tag was added to gene: PDGFRB.",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:41:06.849845Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "commented on gene: PDGFRB",
            "entity_name": "PDGFRB",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:28:16.322057Z",
            "panel_name": "Structural eye disease",
            "panel_id": 509,
            "panel_version": "1.93",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Mode of inheritance for gene: NDUFB11 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
            "entity_name": "NDUFB11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:23:23.813680Z",
            "panel_name": "Pigmentary skin disorders",
            "panel_id": 559,
            "panel_version": "1.24",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Classified gene: HCCS as Amber List (moderate evidence)",
            "entity_name": "HCCS",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:23:23.809856Z",
            "panel_name": "Pigmentary skin disorders",
            "panel_id": 559,
            "panel_version": "1.24",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: New gene added by Tom Cullup (Great Ormond Street Hospital). This gene is associated with a relevant phenotype in OMIM and Gene2Phenotype (confirmed). There is enough evidence to support a gene-disease association. This gene should be rated Green at the next review.",
            "entity_name": "HCCS",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:23:23.780664Z",
            "panel_name": "Pigmentary skin disorders",
            "panel_id": 559,
            "panel_version": "1.24",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Gene: hccs has been classified as Amber List (Moderate Evidence).",
            "entity_name": "HCCS",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T16:22:27.255657Z",
            "panel_name": "Pigmentary skin disorders",
            "panel_id": 559,
            "panel_version": "1.23",
            "user_name": "Ivone Leong",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: HCCS.",
            "entity_name": "HCCS",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T10:55:02.085479Z",
            "panel_name": "COVID-19 research",
            "panel_id": 111,
            "panel_version": "1.90",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "gene: FLNA was added\ngene: FLNA was added to COVID-19 research. Sources: Literature\nMode of inheritance for gene: FLNA was set to Unknown\nPublications for gene: FLNA were set to DOI:10.3390/genes12111842\nReview for gene: FLNA was set to AMBER\nAdded comment: DOI: 10.3390/genes12111842 reports: Results based on DSC and SSC metrics demonstrated a different selective pressure on three genes (MUC5AC, ABCA7, FLNA) between Qatari and Italian populations. This study highlighted the genetic differences between Qatari and Italian populations and identified a subset of genes involved in innate immunity and host-pathogen interaction. \nSources: Literature",
            "entity_name": "FLNA",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T10:52:30.169706Z",
            "panel_name": "COVID-19 research",
            "panel_id": 111,
            "panel_version": "1.89",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "Publications for gene: MUC5AC were set to 10.3390/genes12111842",
            "entity_name": "MUC5AC",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T10:51:50.649986Z",
            "panel_name": "COVID-19 research",
            "panel_id": 111,
            "panel_version": "1.88",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "gene: ABCA7 was added\ngene: ABCA7 was added to COVID-19 research. Sources: Literature\nMode of inheritance for gene: ABCA7 was set to Unknown\nPublications for gene: ABCA7 were set to DOI:10.3390/genes12111842\nReview for gene: ABCA7 was set to AMBER\nAdded comment: DOI: 10.3390/genes12111842 reports: Results based on DSC and SSC metrics demonstrated a different selective pressure on three genes (MUC5AC, ABCA7, FLNA) between Qatari and Italian populations. This study highlighted the genetic differences between Qatari and Italian populations and identified a subset of genes involved in innate immunity and host-pathogen interaction. \nSources: Literature",
            "entity_name": "ABCA7",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-25T10:47:36.387429Z",
            "panel_name": "COVID-19 research",
            "panel_id": 111,
            "panel_version": "1.87",
            "user_name": "Sarah Leigh",
            "item_type": "entity",
            "text": "gene: MUC5AC was added\ngene: MUC5AC was added to COVID-19 research. Sources: Literature\nMode of inheritance for gene: MUC5AC was set to Unknown\nPublications for gene: MUC5AC were set to 10.3390/genes12111842\nReview for gene: MUC5AC was set to AMBER\nAdded comment: DOI: 10.3390/genes12111842 reports: Results based on DSC and SSC metrics demonstrated a different selective pressure on three genes (MUC5AC, ABCA7, FLNA) between Qatari and Italian populations. This study highlighted the genetic differences between Qatari and Italian populations and identified a subset of genes involved in innate immunity and host-pathogen interaction. \nSources: Literature",
            "entity_name": "MUC5AC",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:27:29.860861Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Classified gene: NOTCH3 as Amber List (moderate evidence)",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:27:29.858105Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoting from grey to amber. 1 case plus functional studies supporting the role of the reported NOTCH3 variant in disease.",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:27:29.841720Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Gene: notch3 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:26:31.100205Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.14",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Phenotypes for gene: NOTCH3 were changed from MYOFIBROMATOSIS, INFANTILE, 2 to ?Myofibromatosis, infantile 2, OMIM:615293; myofibromatosis, infantile, 2, MONDO:0014122",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:25:12.597708Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.13",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Publications for gene: NOTCH3 were set to 23731542",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:24:48.573085Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.12",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "changed review comment from: Provisionally associated with ?Myofibromatosis, infantile 2 #615293 (AD) in OMIM which they state is characterized by the development of benign tumors in the skin, muscle, bone, and viscera.\r\n\r\nPMID: 23731542 - Martignetti et al 2013 - In a family with Infantile myofibromatosis  exome sequencing identified a heterozygous variant in NOTCH along with another candidate variant. By performing Sanger sequencing of 16 family members (9 affected and 7 unaffected) they found that only NOTCH3 mutation c.4556T>C (p.Leu1519Pro) segregated appropriately with affected status.; to: Provisionally associated with ?Myofibromatosis, infantile 2 #615293 (AD) in OMIM which they state is characterized by the development of benign tumors in the skin, muscle, bone, and viscera.\r\n\r\nPMID: 23731542 - Martignetti et al 2013 - In a family with Infantile myofibromatosis exome sequencing identified a heterozygous variant in NOTCH along with another candidate variant. By performing Sanger sequencing of 16 family members (9 affected and 7 unaffected) they found that only NOTCH3 mutation c.4556T>C (p.Leu1519Pro) segregated appropriately with affected status.\r\n\r\nPMID: 33509954 - Wu et al 2021 - looked at the molecular consequences of the NOTCH3 L1519P mutation using HEK293 cells. The NOTCH3L1519P receptor generates enhanced downstream signaling in a ligand-independent manner, but is absent from the cell surface and accumulates in the endoplasmic reticulum instead.  The protein with the variant upregulates PDGFRB expression in fibroblasts. This supports a functional link between Notch and PDGF dysregulation in Infantile myofibromatosis.",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:15:57.936095Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.12",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "edited their review of gene: NOTCH3: Changed publications to: 33509954, 23731542",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T18:01:24.201317Z",
            "panel_name": "Multiple monogenic benign skin tumours",
            "panel_id": 558,
            "panel_version": "1.12",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "commented on gene: NOTCH3",
            "entity_name": "NOTCH3",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:17:14.059565Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Classified gene: PTPN11 as Amber List (moderate evidence)",
            "entity_name": "PTPN11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:17:14.056284Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Leaving rating as amber, but with recommendation for green rating after GMS confirmation given the green review from NHS reviewer.",
            "entity_name": "PTPN11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:17:14.026850Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.18",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Gene: ptpn11 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "PTPN11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:14:46.430280Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.17",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Phenotypes for gene: PTPN11 were changed from Noonan syndrome; Noonan syndrome with lentigines (LEOPARD); Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion) to Phakomatosis pigmentovascularis (PPV), MONDO:0017318; LEOPARD syndrome 1, OMIM:151100; Speckled lentiginous naevus syndrome (deletion)",
            "entity_name": "PTPN11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:10:41.825729Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.16",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: PTPN11.",
            "entity_name": "PTPN11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:07:21.200830Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.16",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Phenotypes for gene: PTPN11 were changed from Noonan syndrome; Noonan syndrome with lentigines (LEOPARD) to Noonan syndrome; Noonan syndrome with lentigines (LEOPARD); Phakomatosis pigmentovascularis (PPV), Noonan syndrome with lentigines (LEOPARD)(151100); Speckled lentiginous naevus syndrome (deletion)",
            "entity_name": "PTPN11",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:03:51.076028Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag mosaicism tag was added to gene: PORCN.",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:03:36.824223Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Classified gene: PORCN as Amber List (moderate evidence)",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:03:36.820674Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Promoting from grey to amber, but with a recommendation for a GREEN rating following GMS review.",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:03:36.798983Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.15",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Gene: porcn has been classified as Amber List (Moderate Evidence).",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:02:55.332772Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.14",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: PORCN.",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:02:21.760665Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.14",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Phenotypes for gene: PORCN were changed from Focal dermal hypoplasia (https://omim.org/entry/305600) to Focal dermal hypoplasia, OMIM:305600; focal dermal hypoplasia, MONDO:0010592",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:01:15.544242Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.13",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "Publications for gene: PORCN were set to 17546030",
            "entity_name": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T17:00:48.400266Z",
            "panel_name": "Mosaic skin disorders - deep sequencing",
            "panel_id": 564,
            "panel_version": "1.12",
            "user_name": "Eleanor Williams",
            "item_type": "entity",
            "text": "edited their review of gene: PORCN: Changed 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": "PORCN",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T13:37:37.837649Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.115",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Tag Q4_21_rating tag was added to gene: IFIH1.",
            "entity_name": "IFIH1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T13:37:27.415550Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.115",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Classified gene: IFIH1 as Amber List (moderate evidence)",
            "entity_name": "IFIH1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T13:37:27.412338Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.115",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Added comment: Comment on list classification: Spasticity can be a prominent feature of Aicardi-Goutières syndrome (OMIM:615846) and has been reported as an early presenting sign in some cases. There has also been a case of spastic paraplegia without other common manifestations such as abnormal brain imaging and impaired cognitive development. \r\n\r\nOverall there is value in including IFIH1 on this panel and therefore this gene should be promoted to Green at the next GMS panel update.",
            "entity_name": "IFIH1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T13:37:27.378238Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.115",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Gene: ifih1 has been classified as Amber List (Moderate Evidence).",
            "entity_name": "IFIH1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T13:27:25.551801Z",
            "panel_name": "Hereditary spastic paraplegia - childhood onset",
            "panel_id": 568,
            "panel_version": "2.114",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7 MIM#615846 to Aicardi-Goutieres syndrome 7, OMIM:615846",
            "entity_name": "IFIH1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T13:21:44.330019Z",
            "panel_name": "Skeletal dysplasia",
            "panel_id": 309,
            "panel_version": "2.157",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: IFIH1 were changed from Singleton-Merten syndrome 1, 182250 to Singleton-Merten syndrome 1, OMIM:182250",
            "entity_name": "IFIH1",
            "entity_type": "gene"
        },
        {
            "created": "2021-11-24T13:20:07.289593Z",
            "panel_name": "Genetic epilepsy syndromes",
            "panel_id": 402,
            "panel_version": "2.474",
            "user_name": "Arina Puzriakova",
            "item_type": "entity",
            "text": "Phenotypes for gene: IFIH1 were changed from Aicardi-Goutieres syndrome 7, 615846; seizures to Aicardi-Goutieres syndrome 7, OMIM:615846",
            "entity_name": "IFIH1",
            "entity_type": "gene"
        }
    ]
}