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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1679",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1677",
"results": [
{
"created": "2020-08-10T16:08:41.270197+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a4 has been classified as Green List (High Evidence).",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:07:31.547415+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP2C1 as ready",
"entity_name": "ATP2C1",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:07:31.538358+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2c1 has been classified as Green List (High Evidence).",
"entity_name": "ATP2C1",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:07:27.677985+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP2C1 as Green List (high evidence)",
"entity_name": "ATP2C1",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:07:27.667882+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp2c1 has been classified as Green List (High Evidence).",
"entity_name": "ATP2C1",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:06:41.711068+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC39A7 as ready",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:06:41.699844+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:06:36.899751+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC39A7 as Red List (low evidence)",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-08-10T16:06:36.891872+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc39a7 has been classified as Red List (Low Evidence).",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-08-10T15:51:18.600836+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: IKBKG was set to Other\nPublications for gene: IKBKG were set to 12588226; 30151858; 10839543; 11673821\nPhenotypes for gene: IKBKG were set to Incontinentia pigmenti (MIM#308300)\nReview for gene: IKBKG was set to GREEN\ngene: IKBKG was marked as current diagnostic\nAdded comment: Well-established association with Incontinentia pigmenti, which is a multi-stage disease, stage 1 of which has blister-like bullous eruptions that are linear on the extremities and/or circumferential on the trunk, which usually disappear by 18 months (GeneReviews - https://www.ncbi.nlm.nih.gov/books/NBK1472/). Most pathogenic variants are gene rearrangements or multi-exon deletions.\r\n\r\nX-linked dominant, with presumed male lethality (although there are reports of mosaic and XXY affected males).\r\n\r\nThis gene is also associated with Ectodermal dysplasia and immunodeficiency but these associations do not fit this panel. \nSources: Literature",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2020-08-10T15:45:31.635671+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: DSG1 was added\ngene: DSG1 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: DSG1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: DSG1 were set to 19558595; 23974871\nPhenotypes for gene: DSG1 were set to Erythroderma, congenital, with palmoplantar keratoderma, hypotrichosis, and hyper IgE, AR (MIM#615508); Keratosis palmoplantaris striata I, AD (MIM# 148700)\nPenetrance for gene: DSG1 were set to unknown\nReview for gene: DSG1 was set to AMBER\nAdded comment: skin blistering and/or fragility reported in 2 probands\r\n\r\nPMID: 19558595;\r\n- 40-yr old man presented with painful thickening of the skin on his palms and soles, hyperhidrosis and intermittent associated blistering, since childhood\r\n- heterozygous p.(Arg144*)\r\n\r\nPMID: 23974871;\r\n(authors are calling it SAM syndrome)\r\n- 2 families in this report with 1 individual presenting with skin erosions and scaling homozygous for c.49–1G>A \nSources: Literature",
"entity_name": "DSG1",
"entity_type": "gene"
},
{
"created": "2020-08-10T14:58:58.505179+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: KRT1 was added\ngene: KRT1 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: KRT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KRT1 were set to 7511022; 21271994\nPhenotypes for gene: KRT1 were set to Epidermolytic hyperkeratosis (MIM#113800; Epidermolytic ichthyosis\nReview for gene: KRT1 was set to GREEN\ngene: KRT1 was marked as current diagnostic\nAdded comment: Well-established gene-disease association. Associated with Epidermolytic hyperkeratosis, Ichthyosis, and Palmoplantar keratoderma. OMIM says AD and AR associations for EHK but this seems to apply to KRT10, not KRT1. Multiple families reported mostly with EHK (also referred to as epidermolytic ichthyosis in the literature? I'm unsure about the phenotype distinctions).\r\n\r\nEHK can apparently present with skin blistering early in life before thickening, and so this gene is green on the GEL panel. \nSources: Literature",
"entity_name": "KRT1",
"entity_type": "gene"
},
{
"created": "2020-08-10T14:52:43.526090+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: DSC3 was added\ngene: DSC3 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: DSC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DSC3 were set to 19765682; 20159115; 24690439; 31790667\nPhenotypes for gene: DSC3 were set to Hypotrichosis and recurrent skin vesicles (MIM# \t613102)\nPenetrance for gene: DSC3 were set to unknown\nReview for gene: DSC3 was set to AMBER\nAdded comment: PMID: 19765682;\r\n- large family from Afghanistan with 4x affecteds with hereditary hypotrichosis and the appearance of recurrent skin vesicle formation\r\n- homozygous for p.(Leu710*)\r\n\r\nHowever, Payne 2010 (PMID: 20159115) and Fine 2014 (PMID: 24690439) argued that no definitive clinical or histopathologic evidence of blistering was presented. This family's phenotype is more consistent with a different skin disorder known as keratosis pilaris, which is associated with follicular plugging on histology. \r\n\r\nPMID: 31790667;\r\n- 1x proband born to consanguineous Egyptian parents with unequivocal skin blistering and hypotrichosis. From 4 years of age, he started to develop blisters on his hands, feet, and knees, as well as at sites of trauma\r\n- homozygous for p.(Leu727*)\r\n- Immunofluorescence microscopy in patient’s skin revealed a complete absence of DSC3 labeling, consistent with nonsense-mediated RNA decay \nSources: Literature",
"entity_name": "DSC3",
"entity_type": "gene"
},
{
"created": "2020-08-10T14:10:35.114377+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CSTA was added\ngene: CSTA was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: CSTA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSTA were set to 23534700; 25400170; 21944047\nPhenotypes for gene: CSTA were set to Peeling skin syndrome 4\t(MIM#607936)\nPenetrance for gene: CSTA were set to unknown\nReview for gene: CSTA was set to GREEN\nAdded comment: PMID: 23534700;\r\n- large consanguineous Jordanian American pedigree with acral peeling skin syndrome (APSS) that affected 10 individuals over four generations.\r\n- homozygous for p(.Lys22*)\r\n\r\nPMID: 25400170;\r\n- 25-year-old man from Iran with consanguineous parents, who presented with congenital erythroderma, hyperhidrosis and diffuse hyperkeratosis with coarse palmo plantar peeling of the skin\r\n- homozygous for p.(Arg58T*)\r\n\r\nPMID: 21944047;\r\n- 1x consanguineous family of Bedouin origin homoyzgous for c.67-2A>T\r\n-> minigene assays demonstrated skipping of the first 12 base pairs of exon 2 of CSTA\r\n- 1x consanguineous family Turkish origin homozygous for p.(Gln86*) \nSources: Literature",
"entity_name": "CSTA",
"entity_type": "gene"
},
{
"created": "2020-08-10T13:16:53.052487+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CDSN was added\ngene: CDSN was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: CDSN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CDSN were set to 23957618; 20691404; 21191406; 25473393\nPhenotypes for gene: CDSN were set to Peeling skin syndrome 1\t(MIM#270300)\nPenetrance for gene: CDSN were set to unknown\nReview for gene: CDSN was set to GREEN\nAdded comment: Also known as TypeB\r\n\r\nPMID: 23957618;\r\n1x Caucasian female with homozygous p.(Gly142*)\r\n\r\nPMID: 20691404;\r\n4x in a large consanguineous Roma family from Germany with homozygous p.(Lys59*)\r\n\r\nPMID: 21191406;\r\n1x Jewish male from a consanguineous family with homozygous p.(Gly249Valfs40)\r\n\r\nPMID: 25473393;\r\n1x japanese female from consanguineous family with homozygous p.(Ser453Asn) \nSources: Literature",
"entity_name": "CDSN",
"entity_type": "gene"
},
{
"created": "2020-08-10T13:09:39.901890+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: KRT10 was added\ngene: KRT10 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: KRT10 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KRT10 were set to 1380725; 1381287; 7508181; 20798280; 16505000; 18219278; 19474805\nPhenotypes for gene: KRT10 were set to Epidermolytic hyperkeratosis (MIM#113800); Ichthyosis with confetti (MIM#609165); Ichthyosis, cyclic, with epidermolytic hyperkeratosis (MIM#607602)\nReview for gene: KRT10 was set to GREEN\ngene: KRT10 was marked as current diagnostic\nAdded comment: Well-established gene-disease association. \r\n\r\nAssociated with Epidermolytic Hyperkeratosis (both dominant and recessive inheritance have been reported) and Ichthyosis with confetti. Multiple families (>3) reported for each phenotype and inheritance. I think this gene belongs on the panel for its association with EHK. \nSources: Literature",
"entity_name": "KRT10",
"entity_type": "gene"
},
{
"created": "2020-08-10T12:54:40.585823+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: CAST was added\ngene: CAST was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: CAST was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CAST were set to 25683118\nPhenotypes for gene: CAST were set to Peeling skin with leukonychia, acral punctate keratoses, cheilitis, and knuckle pads (MIM# 616295)\nPenetrance for gene: CAST were set to unknown\nReview for gene: CAST was set to GREEN\nAdded comment: PMID: 25683118;\r\n\r\n 1x Chinese proband from a consanguineous family. She presented with trauma-induced recurrent blistering prominently on the extremities since infancy, which was worse in summer. In winter, asymptomatic skin peeling was more prominent . Homozygous for c.607dup; p.(Ile203Asnfs*8)\r\n-> RT-PCR of mRNA from this patient's skin demonstrated NMD\r\n- 1x Nepalese proband from non-consanguineous parents with history of painful lesions on the palms and soles. Homozygous for c.424A>T ; p.(Lys142*)\r\n- 1x European sibling pair with history of blistering and peeling of skin. Homozygous for c.1750delG p.(*Val584Trpfs*37) \nSources: Literature",
"entity_name": "CAST",
"entity_type": "gene"
},
{
"created": "2020-08-10T12:34:08.932158+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP2A2 was added\ngene: ATP2A2 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: ATP2A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP2A2 were set to 10441324; 17635506\nPhenotypes for gene: ATP2A2 were set to Darier disease\t(MIM#124200)\nPenetrance for gene: ATP2A2 were set to unknown\nReview for gene: ATP2A2 was set to GREEN\nAdded comment: Characteristic lesions in DD are hyperkeratotic, erythematous, pruritic plaques that may ulcerate, scale and turn gray, getcrusted, or coalesce into larger lesions.\r\nAcral haemorrhagic Darier disease causes macules, papules, vesicles and/or hemorrhagic blisters on the extremities.\r\n\r\n\r\nHaemorrhagic DD described in\r\nPMID: 10441324;\r\n 2 unrelated Italian families + 1 scottish family with p.(Asn767Ser)\r\n1 Swedish family with p.(Cys268Phe)\r\n\r\nPMID: 17635506;\r\n1 Japanese family with 9 affecteds harbouring p.(Asn767Ser) \nSources: Literature",
"entity_name": "ATP2A2",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:47:59.189120+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLC39A4 was added\ngene: SLC39A4 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A4 were set to 19370757\nPhenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica (MIM#201100)\nReview for gene: SLC39A4 was set to GREEN\ngene: SLC39A4 was marked as current diagnostic\nAdded comment: Well-established gene-disease association. PMID:19370757 summarises 22 families with identified biallelic variants as of 2009 (although some families have only one or no variants identified).\r\n\r\nDisease is characterised by intermittent simultaneous occurrence of diarrhea and dermatitis with failure to thrive. Alopecia of the scalp, eyebrows, and eyelashes is a usual feature. The skin lesions are bullous. \nSources: Literature",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:31:45.304958+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.92",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SCN3A were set to 30146301",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:31:08.353048+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:31:05.218590+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SCN3A: Added comment: Six unrelated families reported with prominent speech and oral motor dysfunction but no epilepsy, some multiplex in PMID: 30146301. Additionally malformations of cortical development reported in ~75% of a cohort of 22 individuals with a broader neurodevelomental phenotype, including epilepsy, PMID: 32515017; Changed rating: GREEN; Changed publications: 32515017, 30146301; Changed phenotypes: Polymicrogyria, malformations of cortical development, epilepsy; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:26:36.898619+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCN3A as ready",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:26:36.892388+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Six unrelated families reported, some multiplex.",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:26:36.852455+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:26:25.386861+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCN3A as Green List (high evidence)",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:26:25.378550+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.91",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scn3a has been classified as Green List (High Evidence).",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:24:11.988731+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MADD as ready",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:24:11.978650+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: madd has been classified as Green List (High Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:24:05.395407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MADD were changed from to Intellectual disability; seizures; autonomic dysfunction; endocrine dysfunction",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:23:49.894469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MADD were set to ",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:23:34.744289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MADD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:23:16.283534+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: Intellectual disability, seizures, autonomic dysfunction, endocrine dysfunction; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:21:34.700239+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: ATP2C1 was added\ngene: ATP2C1 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: ATP2C1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ATP2C1 were set to 28551824\nPhenotypes for gene: ATP2C1 were set to Hailey-Hailey disease\t(MIM#\t169600)\nPenetrance for gene: ATP2C1 were set to unknown\nReview for gene: ATP2C1 was set to GREEN\nAdded comment: Skin blistering is a feature of Hailey-Hailey disease.\r\n\r\nPMID: 28551824;\r\nAt least 177 variants reported in this gene for Hailey-Hailey disease \nSources: Literature",
"entity_name": "ATP2C1",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:17:55.327866+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.\r\n\r\nThe two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.\r\n\r\nAdded to this list but rated red as only the one family out of five showed the relevant phenotype. \nSources: Literature; to: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.\r\n\r\nPhenoypes are mostly immunological but the two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.\r\n\r\nAdded to this list but rated red as only the one family out of five showed the relevant phenotype. \r\nSources: Literature",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:14:59.735802+10:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "0.24",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SLC39A7 was added\ngene: SLC39A7 was added to Epidermolysis bullosa. Sources: Literature\nMode of inheritance for gene: SLC39A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A7 were set to 30718914\nPhenotypes for gene: SLC39A7 were set to Absent B cells; Agammaglobulinemia; Early onset infections\nReview for gene: SLC39A7 was set to RED\ngene: SLC39A7 was marked as current diagnostic\nAdded comment: 5 families with biallelic variants described in 1 publication. A mouse model recapitulated the phenotype.\r\n\r\nThe two most severely affected individuals (siblings) additionally showed severe blistering dermatosis, failure to thrive and thrombocytopenia. Haematopoietic stem cell transplantation resulted in cure of immunologic abnormalities and amelioration of skin disease. Another patient had seborrheic dermatitis.\r\n\r\nAdded to this list but rated red as only the one family out of five showed the relevant phenotype. \nSources: Literature",
"entity_name": "SLC39A7",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:11:53.593132+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MADD as ready",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:11:53.585291+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: madd has been classified as Green List (High Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:01:08.918425+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MADD as Green List (high evidence)",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T11:01:08.910613+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: madd has been classified as Green List (High Evidence).",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-10T09:31:12.655593+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.90",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "edited their review of gene: SCN3A: Changed publications: 30146301, 29740860",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-10T09:30:11.168640+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.90",
"user_name": "chloe stutterd",
"item_type": "entity",
"text": "gene: SCN3A was added\ngene: SCN3A was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN3A were set to 30146301\nPhenotypes for gene: SCN3A were set to Polymicrogyria; epileptic encephalopathy\nReview for gene: SCN3A was set to GREEN\ngene: SCN3A was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2020-08-09T22:44:14.636181+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2835",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "reviewed gene: MADD: Rating: GREEN; Mode of pathogenicity: None; Publications: 28940097, 29302074, 32761064; Phenotypes: Global developmental delay / Intellectual disability / Seizures, Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-09T22:42:44.841403+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.774",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: MADD was added\ngene: MADD was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MADD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MADD were set to 28940097; 29302074; 32761064\nPhenotypes for gene: MADD were set to Global developmental delay / Intellectual disability / Seizures; Global developmental delay / Intellectual disability / Seizures / Abnormality of the endocrine system / Exocrine pancreatic insufficiency / Constipation / Diarrhea / Anemia / Thrombocytopenia / Abnormality of the autonomic nervous system\nPenetrance for gene: MADD were set to Complete\nReview for gene: MADD was set to GREEN\nAdded comment: There are 3 reports on the phenotype of individuals with biallelic pathogenic MADD variants. Clinical presentation appears to be relevant for inclusion of this gene in both ID and epilepsy panels. A recent study provides extensive clinical details and suggests that the phenotype may range from DD/ID to a severe pleiotropic disorder characterized by severe DD (and ID), sensory and autonomic dysfunction, exocrine and endocrine insufficiency and haematological anomalies). Seizures have been reported in several individuals with either presentation.\r\n-----\r\nAnazi et al (2017 - PMID: 28940097) identified MADD as a potential ID gene. The authors described a girl with profound DD and seizures among other features. The child, deceased at the age of 14m, was born to consanguineous Saoudi parents and was found to harbour a homozygous missense SNV [NM_003682.3:c.2930T>G:p.(Val977Gly)]. Through GeneMatcher, the authors identified a further 6 y.o. girl, compound heterozygous for a missense and a stopgain variant [NM_003682.3:c.593G>A:p.(Arg198His) and c.979C>T:p.(Arg327*)]. The child had normal development and milestones until the age of 15m, when she demonstrated delay in speech, social interactions, poor eye contact and was later diagnosed with ASD.\r\n-----\r\nHu et al (2019 - PMID: 29302074) provided details on a 22- and 30- y.o. female born to (reportedly) unrelated parents. Formal evaluation (WAIS-IV) suggested ID in the mild to moderate range(IQs of 50 and 60 respectively). Both were homozygous for an indel [NM_003682:c.3559del / p.(Met1187*)].\r\n-----\r\nSchneeberger et al (2020 - PMID: 32761064) report on 23 affected subjects. \r\n\r\nThe authors categorized the phenotypes in 2 groups. 9 individuals belonging to group 1 presented with hypotonia, DD (9/9) with speech impaiment, ID (5/5) and seizures (6/9). 14 patients, belonging to group 2 had DD (9/9 - severe), ID (3/3), seizures (9/14), endo- and exocrine dysfunction, impairment of sensory and autonomic nervous system, haematological anomalies. The course was fatal in some cases, within the later group. Some facial features appeared to be more frequent (e.g. full cheeks, small mouth, tented upper lip - small palpebral fissures in some, etc). Genital anomalies were also common in males from both groups.\r\n\r\nAll were found to harbor biallelic MADD variants (21 different - missense and pLoF SNVs as well as an intragenic deletion). Variants in all cases affected all 7 isoforms. Data did not allow genotype-phenotype correlations e.g. individuals with missense and a pLoF variant (in trans) were identified within either group. \r\n\r\nStudies using patient-derived fibroblasts supported the role of the variants, e.g. lower mRNA levels for those where NMD would apply, deficiency or drastic reduction of the protein upon immunobloting (also the case for missense variants) and mRNA analyses demonstrating aberrant transcripts for 2 relevant variants.\r\n\r\nMADD encodes the MAPK-activating protein containing a death domain implicated among others in neurotransmission (Rab3 GEF and effector playing a role in formation/trafficking of synaptic vessicles), cell survival (pro-apoptotic effects/protection against apoptosis upon TNF-a treatment), etc. The gene has relevant expression pattern in fetal and adult brain (discussed by Hu et al). \r\n\r\nStudies in patient fibroblasts provide evidence of reduced activation of MAP kinases ERK1/2 upon treatment with TNF-a, activation of the intrinsic (TNF-a-dependent-) apoptosis. MADD deficiency was shown to result to decreased EGF endocytosis (likely mediated by Rab3).\r\n\r\nMouse model further supports the role of MADD (summary by MGI: \"Mice homozygous for a knock-out allele die shortly after birth due to respiratory failure, are hyporesponsive to tactile stimuli, and exhibit defects in neurotransmitter release with impaired synaptic vesicle trafficking and depletion of synaptic vesicles at the neuromuscular junction.\").\r\n\r\nYou may consider inclusion in other gene panels e.g. for hematologic (low Hb and thrombocytopenia in several) or GI (e.g diarrhea) disorders. \nSources: Literature",
"entity_name": "MADD",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:22:41.063320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC45A as ready",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:22:41.048995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc45a has been classified as Green List (High Evidence).",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:22:33.703251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:21:38.840759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC45A were set to ",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:21:15.319369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:20:59.398468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:20:22.068906+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC45A as ready",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:20:22.059059+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc45a has been classified as Green List (High Evidence).",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:20:11.784476+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:19:51.940946+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC45A were set to ",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:19:28.434290+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:19:02.158941+10:00",
"panel_name": "Congenital Diarrhoea",
"panel_id": 89,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:17:23.796900+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC45A as ready",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:17:23.786137+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc45a has been classified as Green List (High Evidence).",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:17:17.908953+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from to Cholestasis; Diarrhoea; Bone fragility; Impaired hearing",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:16:53.798518+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC45A were set to ",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:16:33.874293+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:16:06.884757+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC45A: Rating: GREEN; Mode of pathogenicity: None; Publications: 29429573; Phenotypes: Cholestasis, Diarrhoea, Bone fragility, Impaired hearing; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:14:33.211804+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRMU as ready",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:14:33.203865+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:14:30.829870+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TRMU were changed from to Liver failure, transient infantile, MIM# 613070",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:14:05.346579+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TRMU was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:13:39.973857+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRMU as Amber List (moderate evidence)",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:13:39.963752+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trmu has been classified as Amber List (Moderate Evidence).",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:13:10.802901+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRMU: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Liver failure, transient infantile, MIM# 613070; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:09:51.844330+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEM216 as ready",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:09:51.835736+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:09:49.402100+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEM216 were changed from to Meckel syndrome 2, MIM# 603194",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:09:22.563070+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:09:02.575529+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEM216 as Red List (low evidence)",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:09:02.565757+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmem216 has been classified as Red List (Low Evidence).",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:08:34.711071+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEM216: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Meckel syndrome 2, MIM# 603194; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:07:10.757241+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TFR2 as Red List (low evidence)",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:07:10.747328+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tfr2 has been classified as Red List (Low Evidence).",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:06:43.851039+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported.; to: Multiple families reported but cirrhosis rather than cholestasis.",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:06:30.560306+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TFR2: Changed rating: RED",
"entity_name": "TFR2",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:05:42.667543+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMPD1 as ready",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:05:42.656807+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Red List (Low Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:05:32.978689+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMPD1 were changed from to Niemann-Pick disease",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:05:12.488533+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMPD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:04:40.513965+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMPD1 as Red List (low evidence)",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:04:40.505719+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smpd1 has been classified as Red List (Low Evidence).",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:04:17.246168+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMPD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Niemann-Pick disease; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:02:46.936747+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC40A1 as ready",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:02:46.928539+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc40a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:02:43.877647+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC40A1 were changed from to Hemochromatosis, type 4, MIM# 606069",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:02:16.045970+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC40A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:01:54.670782+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC40A1 as Red List (low evidence)",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:01:54.663194+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc40a1 has been classified as Red List (Low Evidence).",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:01:31.151835+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC40A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, type 4, MIM# 606069; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:00:17.296935+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC30A10 as ready",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:00:17.287190+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Red List (Low Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-08-09T21:00:06.695312+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC30A10 were changed from to Hypermanganesemia with dystonia 1, MIM# 613280",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-08-09T20:59:45.401321+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC30A10 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-08-09T20:59:25.155494+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC30A10 as Red List (low evidence)",
"entity_name": "SLC30A10",
"entity_type": "gene"
},
{
"created": "2020-08-09T20:59:25.145574+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc30a10 has been classified as Red List (Low Evidence).",
"entity_name": "SLC30A10",
"entity_type": "gene"
}
]
}