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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=927",
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"results": [
{
"created": "2022-03-21T12:04:00.456740+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C6 as ready",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:04:00.446578+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c6 has been classified as Green List (High Evidence).",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:03:58.658951+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.52",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C6 as ready",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:03:58.648935+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.52",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c6 has been classified as Green List (High Evidence).",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:03:19.331966+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23537992, 24378253, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T12:03:17.510894+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.52",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23537992, 24378253, 17257682, 22668955, 32670577; Phenotypes: C6 deficiency MIM#612446; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:46:05.537628+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11652",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:45:35.694867+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.391",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS3: Rating: RED; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:44:58.612883+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.733",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:43:56.576747+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.433",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22499348, 30140060, 14729820, 33097395; Phenotypes: Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:42:59.626090+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.5",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NDUFS3 was added\ngene: NDUFS3 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: NDUFS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFS3 were set to 22499348; 30140060; 14729820; 33097395\nPhenotypes for gene: NDUFS3 were set to Mitochondrial complex I deficiency, nuclear type 8 - MIM#618230\nReview for gene: NDUFS3 was set to AMBER\nAdded comment: 4 unrelated families reported with supportive functional evidence. Leigh-syndrome phenotype reported with features suggestive of optic atrophy described in one patient.\r\n\r\n--\r\n\r\nPMID 22499348 - report one individual with homozygous variants and developmental delay, muscular hypotonia, lactic acidosis, rapid progression of disease.\r\n\r\nPMID 30140060 - report one individual with compound het variants and Leigh-syndrome phenotype. MRI-B showed a high T2 signal intensity in the white matter of hemispheres, basal ganglia and brain stem with progressive changes. Patient deceased age 2.\r\n\r\nPMID 14729820 - report one individual with compound het variant and affected foetus. The proband presented at the age of 9 with persistent stiff neck. MRI-B age 10 detected high T2 signal intensity in the putamen, white matter and brainstem. Also had features of optic nerve atrophy and later developed acute pancreatitis, severe respiratory insufficiency and died age 13 after rapid multisystem deterioration.\r\n\r\nPMID 33097395 - report one adult patient with compound-het variants and Leigh Syndrome features \nSources: Literature",
"entity_name": "NDUFS3",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:30:10.644540+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C5 as ready",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:30:10.634895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c5 has been classified as Green List (High Evidence).",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:28:19.642654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11652",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:27:01.345039+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.52",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C5 were changed from C5 deficiency MIM#609536 to C5 deficiency MIM#609536",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:26:39.915727+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.51",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:26:37.078030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11651",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C5 were set to ",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:26:18.171947+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.51",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C5 were set to 23743184; 15488949; 15778377; 23371790",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:25:56.893044+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.50",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C5 were set to ",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:25:35.041943+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.50",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C5 were changed from to C5 deficiency MIM#609536",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:25:14.180278+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.50",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:24:53.000886+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.50",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C5 was changed from to None",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:24:44.304430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11650",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:24:32.464075+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.50",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:24:25.009430+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C5 as ready",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:24:24.968783+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c5 has been classified as Green List (High Evidence).",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:24:02.353727+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 15488949, 15778377, 23371790; Phenotypes: C5 deficiency MIM#609536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:24:01.356074+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C5: Rating: GREEN; Mode of pathogenicity: None; Publications: 23743184, 15488949, 15778377, 23371790; Phenotypes: C5 deficiency MIM#609536; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:08:34.989717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C4A: Rating: RED; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:08:33.284613+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C4A: Rating: RED; Mode of pathogenicity: None; Publications: 22387014, 22737222, 15998580, 10529130, 15294999; Phenotypes: C4a deficiency MIM#614380, susceptibility systemic lupus erythematosus; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "C4A",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:04:26.079202+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:04:15.119850+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.733",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:04:00.298371+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.391",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS2: Rating: RED; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:03:57.117723+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.433",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 28031252, 31411514, 22036843, 20819849, 11220739, 23266820, 31411514; Phenotypes: Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T11:01:53.922719+11:00",
"panel_name": "Optic Atrophy",
"panel_id": 149,
"panel_version": "1.5",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: NDUFS2 was added\ngene: NDUFS2 was added to Optic Atrophy. Sources: Literature\nMode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NDUFS2 were set to 28031252; 31411514; 22036843; 20819849; 11220739; 23266820; 31411514\nPhenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, nuclear type 6 - MIM#618228\nReview for gene: NDUFS2 was set to GREEN\nAdded comment: PMID 22036843 - report one patient with nystagmus, optic atrophy, seizures and regression. \r\n\r\nPMID 20819849 - 4 unrelated patients with compound het variants with Leigh Syndrome/Leigh-like syndrome phenotype. One patient reported to have multiple seizures with normal EEGs.\r\n\r\nPMID: 11220739 - 4 patients from 3 unrelated families, phenotypic features include regression, bilateral optic atrophy, nystagmus, MRI-B basal ganglia anomalies, cerebral atrophy, muscle hypotonia, hypertrophic cardiomyopathy.\r\n\r\nPMID: 23266820 - 2 siblings, compound het - developmental regression, ataxic gait with spasticity, nystagmus, optic nerve atrophy\r\n\r\nPMID 28031252 - 3 siblings, compound het. LHON-like optic neuropathy. No extra ocular features. \nSources: Literature",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:56:29.105509+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:53:43.444996+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "edited their review of gene: C4B: Changed phenotypes: susceptibility to autoimmune disease, C4B deficiency MIM#614379",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:39:50.561552+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C4B: Rating: RED; Mode of pathogenicity: None; Publications: 34764957, 12626442, 22387014, 17503323; Phenotypes: susceptibility to autoimmune disease; Mode of inheritance: Other; Current diagnostic: yes",
"entity_name": "C4B",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:24:12.444472+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.733",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:23:27.280106+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.433",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:22:41.989123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33751534, 24952175, 20382551, 21203893, 20797884, 15824269, 25615419, 11349233, 22399432; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:22:29.473335+11:00",
"panel_name": "Callosome",
"panel_id": 205,
"panel_version": "0.391",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: NDUFS1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24952175, 20382551, 21203893; Phenotypes: Mitochondrial complex I deficiency, nuclear type 5 - MIM#618226; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:04:41.601164+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C3 as ready",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:04:41.588377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:02:52.792861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11649",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T10:00:33.909503+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11648",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C3 were set to ",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:59:10.588813+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C3 were changed from C3 deficiency MIM#613779 to C3 deficiency MIM#613779",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:58:49.053540+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.49",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C3 were set to 15781264; 1944729; 11813855; 26847111",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:58:27.688433+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: C3 were changed from to C3 deficiency MIM#613779",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:58:06.858803+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: C3 were set to ",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:57:44.892784+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C3 was changed from to None",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:57:24.734065+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: C3 as ready",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:57:24.706257+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: c3 has been classified as Green List (High Evidence).",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:57:23.648891+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.48",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:57:11.024822+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11647",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: C3 was changed from to None",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:56:55.884668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11646",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Mode of inheritance for gene: C3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:56:38.390429+11:00",
"panel_name": "Complement Deficiencies",
"panel_id": 224,
"panel_version": "0.47",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-21T09:56:04.186693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11645",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: C3: Rating: GREEN; Mode of pathogenicity: None; Publications: 15781264, 1944729, 11813855, 26847111; Phenotypes: C3 deficiency MIM#613779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:38:21.288287+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA4 as ready",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:38:21.275633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:38:12.206465+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11645",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMARCA4 were changed from to Coffin-Siris syndrome 4, MIM# 614609",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:38:01.655076+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SMARCA4 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-03-20T13:37:51.485471+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11644",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMARCA4 were set to ",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:37:37.182710+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.157",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:SMARCA2 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-03-20T13:36:15.836315+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11643",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMARCA4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:35:56.322998+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMARCA4: Rating: GREEN; Mode of pathogenicity: None; Publications: 22426308; Phenotypes: Coffin-Siris syndrome 4, MIM# 614609; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:34:39.303841+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD9 as ready",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:34:39.288622+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad9 has been classified as Green List (High Evidence).",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:34:31.462653+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11642",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD9 were changed from to Pulmonary hypertension, primary, 2 MIM#615342",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:34:11.400235+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11641",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD9 were set to ",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:33:48.583360+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11640",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:33:30.085735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD9: Rating: GREEN; Mode of pathogenicity: None; Publications: 29844917, 21920918, 19211612, 21898662; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:31:39.194644+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD7 as ready",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:31:39.185221+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad7 has been classified as Red List (Low Evidence).",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:31:31.333182+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11639",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD7 were changed from to {Colorectal cancer, susceptibility to, 3} 612229",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:31:10.196277+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11638",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:30:52.905450+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMAD7 as Red List (low evidence)",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:30:52.893193+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11637",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad7 has been classified as Red List (Low Evidence).",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:30:35.129763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SMAD7: Changed phenotypes: {Colorectal cancer, susceptibility to, 3} 612229",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:30:12.751515+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD7: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "SMAD7",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:29:03.269123+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMAD4 as ready",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:29:03.257290+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smad4 has been classified as Green List (High Evidence).",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:28:53.045532+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11636",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMAD4 were changed from to Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050; Polyposis, juvenile intestinal, MIM# 174900; Myhre syndrome, MIM# 139210",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:28:32.544877+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11635",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD4 were set to ",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:28:09.494557+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11634",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SMAD4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:27:50.398322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMAD4: Rating: GREEN; Mode of pathogenicity: None; Publications: 30809044, 15235019, 16613914, 20101697, 22158539, 22243968; Phenotypes: Juvenile polyposis/hereditary haemorrhagic telangiectasia syndrome, MIM# 175050, Polyposis, juvenile intestinal, MIM# 174900, Myhre syndrome, MIM# 139210; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:22:53.532308+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLITRK6 as ready",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:22:53.518061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slitrk6 has been classified as Green List (High Evidence).",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:22:45.344526+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11633",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLITRK6 were changed from to Deafness and myopia, MIM#221200",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:22:20.191923+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11632",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLITRK6 were set to ",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:21:58.565040+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11631",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLITRK6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:21:40.359593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLITRK6: Rating: GREEN; Mode of pathogenicity: None; Publications: 29551497, 23543054; Phenotypes: Deafness and myopia, MIM#221200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLITRK6",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:19:12.418144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLITRK1 as ready",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:19:12.407316+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slitrk1 has been classified as Red List (Low Evidence).",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:19:04.587104+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11630",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLITRK1 were changed from to Tourette syndrome, MIM# 137580",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:18:41.889171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLITRK1 were set to ",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:18:15.584574+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLITRK1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:17:55.273524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLITRK1 as Red List (low evidence)",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:17:55.258754+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slitrk1 has been classified as Red List (Low Evidence).",
"entity_name": "SLITRK1",
"entity_type": "gene"
},
{
"created": "2022-03-20T13:17:36.963878+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.11626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag disputed tag was added to gene: SLITRK1.",
"entity_name": "SLITRK1",
"entity_type": "gene"
}
]
}