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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1920",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1918",
"results": [
{
"created": "2020-02-28T16:52:18.555571+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDK13 were set to ",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:51:56.303123+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDK13 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:50:43.296100+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F13B as ready",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:50:43.287048+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13b has been classified as Green List (High Evidence).",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:50:40.703428+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, MIM#613235",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:50:12.892654+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F13B were set to ",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:49:44.775368+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:49:14.100946+11:00",
"panel_name": "Bleeding Disorders",
"panel_id": 54,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 20331752, 26247044; Phenotypes: Factor XIIIB deficiency, MIM#613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:47:59.607535+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: F13B as ready",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:47:59.592971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: f13b has been classified as Green List (High Evidence).",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:47:46.564983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1482",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: F13B were changed from to Factor XIIIB deficiency, 613235",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:47:31.998223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1481",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: F13B were set to ",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:47:10.159075+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1480",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: F13B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:46:31.668168+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase; to: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odour resulting from deficiency of dimethylglycine dehydrogenase",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:46:17.527732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FMO3 as ready",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:46:17.521293+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Inborn error of metabolism accompanied by fish-like body odor resulting from deficiency of dimethylglycine dehydrogenase",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:46:17.475659+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fmo3 has been classified as Green List (High Evidence).",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:46:07.751568+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1479",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FMO3 were changed from to Trimethylaminuria, MIM#602079",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:45:37.842726+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1478",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FMO3 were set to ",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:45:17.571890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1477",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FMO3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:41:50.346236+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPLA6 as ready",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:41:50.333200+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpla6 has been classified as Green List (High Evidence).",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:41:39.557993+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1476",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPLA6 were changed from to Boucher-Neuhauser syndrome, 215470; ?Laurence-Moon syndrome, 245800; Oliver-McFarlane syndrome, 275400; Spastic paraplegia 39, autosomal recessive, 612020",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:41:22.429648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PNPLA6 were set to ",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-02-28T16:41:06.203156+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PNPLA6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-02-28T15:52:35.635089+11:00",
"panel_name": "Long QT Syndrome",
"panel_id": 131,
"panel_version": "0.3",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SCN5A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29798782; Phenotypes: Long QT syndrome 3 (MIM#603830); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2020-02-28T15:41:46.395545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: MC4R: Rating: GREEN; Mode of pathogenicity: None; Publications: 29970488; Phenotypes: {Obesity, resistence to (BMIQ20)} 618306, Obesity (BMIQ20) 618406 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "MC4R",
"entity_type": "gene"
},
{
"created": "2020-02-28T15:17:19.660655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: KMT2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 16990798; Phenotypes: Leukemia, myeloid/lymphoid or mixed-lineage 159555 AD, Wiedemann-Steiner syndrome 605130 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "KMT2A",
"entity_type": "gene"
},
{
"created": "2020-02-28T15:14:30.849628+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.11",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: RBM20: Rating: GREEN; Mode of pathogenicity: None; Publications: 30871351; Phenotypes: Cardiomyopathy, dilated, 1DD 613172 AD; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2020-02-28T14:27:14.553195+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: SLC52A1: Rating: RED; Mode of pathogenicity: None; Publications: 29122468, 17689999; Phenotypes: Riboflavin deficiency, 615026; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T14:23:34.032400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "SLC52A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T14:16:09.603658+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: PTCH2: Rating: RED; Mode of pathogenicity: None; Publications: 30820324; Phenotypes: Basal cell carcinoma, somatic 605462, Basal cell nevus syndrome, 109400, Medulloblastoma, somatic; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T14:11:36.378616+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "PTCH2",
"entity_type": "gene"
},
{
"created": "2020-02-28T13:25:49.284416+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: COL2A1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 15895462, 17721977, 27234559, 20179744; Phenotypes: Achondrogenesis, type II or hypochondrogenesis 200610, Avascular necrosis of the femoral head 608805, Czech dysplasia 609162, Epiphyseal dysplasia, multiple, with myopia and deafness 132450, Kniest dysplasia 156550, Legg-Calve-Perthes disease 150600, Osteoarthritis with mild chondrodysplasia 604864, Platyspondylic skeletal dysplasia, Torrance type 151210, SED congenita 183900, SMED Strudwick type 184250, Spondyloepiphyseal dysplasia, Stanescu type 616583, Spondyloperipheral dysplasia 271700, Stickler sydrome, type I, nonsyndromic ocular 609508, Stickler syndrome, type I 108300, Vitreoretinopathy with phalangeal epiphyseal dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "COL2A1",
"entity_type": "gene"
},
{
"created": "2020-02-28T12:53:25.991629+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DNMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22328086, 21532572; Phenotypes: Cerebellar ataxia, deafness, and narcolepsy, autosomal dominant, 604121, Neuropathy, hereditary sensory, type IE, 614116; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DNMT1",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:20:49.944233+11:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.11",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23071725; Phenotypes: Arrhythmogenic right ventricular dysplasia, 10, 610193, Cardiomyopathy, dilated, 1BB, 612877; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:09:37.680828+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CEP135: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:08:25.226019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:08:19.965199+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:08:10.303086+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "changed review comment from: Microcephalic primordial dwarfism - single case\r\n\r\nIncomplete NMD shown, LOF mechanism; to: Microcephalic primordial dwarfism - single case\r\n\r\nIncomplete NMD shown, LOF mechanism",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:07:58.389526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CEP135: Rating: ; Mode of pathogenicity: None; Publications: PMID: 30214071, 22521416; Phenotypes: Microcephalic primordial dwarfism, Microcephaly 8, primary, autosomal recessive, 614673; Mode of inheritance: None",
"entity_name": "CEP135",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:01:57.123399+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CYP21A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910, Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2020-02-28T10:01:57.114299+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.22",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: CDK13: Rating: GREEN; Mode of pathogenicity: None; Publications: 29021403, 29393965, 30904094; Phenotypes: Congenital heart defects, dysmorphic facial features, and intellectual developmental disorder, 617360; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDK13",
"entity_type": "gene"
},
{
"created": "2020-02-28T09:56:10.837655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: F13B: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20331752, 26247044; Phenotypes: Factor XIIIB deficiency, 613235; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "F13B",
"entity_type": "gene"
},
{
"created": "2020-02-28T09:54:09.817036+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FMO3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28649550, 31240165; Phenotypes: Trimethylaminuria; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FMO3",
"entity_type": "gene"
},
{
"created": "2020-02-28T09:51:10.080838+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: PNPLA6: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25480986, 24355708; Phenotypes: Boucher-Neuhauser syndrome, 215470, ?Laurence-Moon syndrome, 245800, Oliver-McFarlane syndrome, 275400, Spastic paraplegia 39, autosomal recessive, 612020; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:55:45.928972+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPG7 as Red List (low evidence)",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:55:45.920484+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spg7 has been classified as Red List (Low Evidence).",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:55:03.909600+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPG7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 7, autosomal recessive, MIM# 607259; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SPG7",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:49:06.137653+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPAST as ready",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:49:06.124357+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spast has been classified as Red List (Low Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:48:59.945669+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPAST were changed from to Spastic paraplegia 4, autosomal dominant, MIM# 182601",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:48:24.546515+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPAST was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:47:57.336087+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPAST as Red List (low evidence)",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:47:57.323068+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spast has been classified as Red List (Low Evidence).",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-02-27T20:47:24.160373+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPAST: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 4, autosomal dominant, MIM# 182601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPAST",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:51:32.661612+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOS2 as ready",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:51:32.647894+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos2 has been classified as Green List (High Evidence).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:51:26.434955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOS2 as Green List (high evidence)",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:51:26.421203+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sos2 has been classified as Green List (High Evidence).",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:50:50.400618+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOS2 was added\ngene: SOS2 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert list\nMode of inheritance for gene: SOS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SOS2 were set to Noonan syndrome 9, MIM#\t616559\nReview for gene: SOS2 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "SOS2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:34:41.903702+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP85L was added\ngene: CEP85L was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant\nReview for gene: CEP85L was set to GREEN\nAdded comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. \nSources: Literature",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:32:30.487290+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CEP85L as ready",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:32:30.478591+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Green List (High Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:32:17.182309+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEP85L as Green List (high evidence)",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:32:17.173907+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cep85l has been classified as Green List (High Evidence).",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:31:48.949489+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP85L was added\ngene: CEP85L was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: CEP85L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CEP85L were set to 32097630\nPhenotypes for gene: CEP85L were set to Lissencephaly, posterior predominant\nReview for gene: CEP85L was set to GREEN\nAdded comment: Thirteen individuals reported with mono allelic variants in this gene, inherited in two of the families. Mouse model had neuronal migration defects. \nSources: Literature",
"entity_name": "CEP85L",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:27:14.004911+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RASA1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Capillary malformation-arteriovenous malformation 1, MIM# 608354; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:16:29.544765+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX4I2 as Red List (low evidence)",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:16:29.531830+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox4i2 has been classified as Red List (Low Evidence).",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:16:09.954438+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX4I2: Added comment: Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.; Changed rating: RED",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:15:03.383328+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX4I2 as ready",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:15:03.373509+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox4i2 has been classified as Red List (Low Evidence).",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:14:53.776326+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX4I2 were changed from to Exocrine pancreatic insufficiency, dyserythropoietic anemia, and calvarial hyperostosis, MIM#612714",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:14:22.794616+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COX4I2 were set to ",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:13:59.723256+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COX4I2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:13:31.501773+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COX4I2 as Red List (low evidence)",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:13:31.488314+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox4i2 has been classified as Red List (Low Evidence).",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T18:12:58.626560+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: COX4I2: Added comment: Glu138Lys present in 3 homozygotes in gnomad, wich is out of keeping for this rare metabolic disorder. Note no other variants reported in this gene since original report in 2009. All variants submitted to ClinVar are VOUS/LB/B.; Changed rating: RED",
"entity_name": "COX4I2",
"entity_type": "gene"
},
{
"created": "2020-02-27T17:42:16.151586+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2238",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Marked gene: RASA1 as ready",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-02-27T17:42:16.143204+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2238",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "Gene: rasa1 has been classified as Red List (Low Evidence).",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-02-27T17:41:52.129032+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2238",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: RASA1 was added\ngene: RASA1 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: RASA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nReview for gene: RASA1 was set to RED\nAdded comment: GEL review red in 2018, no evidence for link with ID since \nSources: Expert Review",
"entity_name": "RASA1",
"entity_type": "gene"
},
{
"created": "2020-02-27T17:32:53.358519+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2237",
"user_name": "Sebastian Lunke",
"item_type": "entity",
"text": "gene: RAX was added\ngene: RAX was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAX were set to 30762128; 24033328\nPhenotypes for gene: RAX were set to MICROPHTHALMIA, ISOLATED 3; MCOP3\nReview for gene: RAX was set to RED\nAdded comment: Only three cases described with intellectual disability in addition to microphthalmia, no new descriptions of ID association since 2014. Not clear if the cases are from the same or different families. Link with ID seems tenuous at best. \nSources: Expert Review",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2020-02-27T16:52:28.620149+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFHX3 as Amber List (moderate evidence)",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-02-27T16:52:28.611241+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ZFHX3",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:54:15.968509+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOBP as ready",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:54:15.955125+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sobp has been classified as Red List (Low Evidence).",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:53:56.019334+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SOBP as ready",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:53:56.007596+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sobp has been classified as Red List (Low Evidence).",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:53:47.884026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOBP were changed from to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:53:25.125244+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOBP were set to ",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:53:04.660979+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:53:03.806041+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOBP were changed from Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671 to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:52:45.255168+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SOBP were changed from to Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:52:44.284059+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SOBP as Red List (low evidence)",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:52:44.270952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sobp has been classified as Red List (Low Evidence).",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:52:18.405462+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOBP were set to 21035105",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:51:59.747846+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SOBP were set to ",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:51:43.125525+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.1467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SOBP: Rating: RED; Mode of pathogenicity: None; Publications: 21035105; Phenotypes: Mental retardation, anterior maxillary protrusion, and strabismus, MIM# 613671; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOBP",
"entity_type": "gene"
},
{
"created": "2020-02-27T15:51:40.500926+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SOBP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SOBP",
"entity_type": "gene"
}
]
}