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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=380",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=378",
"results": [
{
"created": "2024-10-01T12:28:20.100539+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.353",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ABAT were set to ",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:27:32.592869+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.352",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: GATM as ready",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:27:32.563072+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.352",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: gatm has been classified as Green List (High Evidence).",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:27:27.503283+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.352",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: GATM were set to ",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:26:49.409337+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.351",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: AMPD2 as ready",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:26:49.390013+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.351",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ampd2 has been classified as Green List (High Evidence).",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:26:45.200519+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.351",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AMPD2 were set to 23911318",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:25:14.622692+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.350",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: AMPD2 were set to ",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:24:06.848293+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.349",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ASPA as ready",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:24:06.816459+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.349",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: aspa has been classified as Green List (High Evidence).",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:24:02.778037+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.349",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ASPA were set to ",
"entity_name": "ASPA",
"entity_type": "gene"
},
{
"created": "2024-10-01T12:02:03.569679+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.348",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ALPL: Rating: GREEN; Mode of pathogenicity: None; Publications: 19500388, 23688511, 32029969, 24569605; Phenotypes: Hypophosphatasia, childhood (MIM#241510), Hypophosphatasia, infantile (MIM#241500); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-10-01T09:42:37.981615+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: JAG2 as ready",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2024-10-01T09:42:37.967151+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: jag2 has been classified as Green List (High Evidence).",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2024-10-01T09:37:55.144538+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: JAG2 were set to ",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2024-10-01T09:36:24.541290+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: JAG2 as Green List (high evidence)",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2024-10-01T09:36:24.527959+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: jag2 has been classified as Green List (High Evidence).",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2024-10-01T07:02:22.789393+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GABRB2 was added\ngene: GABRB2 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: GABRB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GABRB2 were set to 38996765\nPhenotypes for gene: GABRB2 were set to epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631\nMode of pathogenicity for gene: GABRB2 was set to Other\nReview for gene: GABRB2 was set to GREEN\ngene: GABRB2 was marked as current diagnostic\nAdded comment: Microcephaly has been reported in at least 13 individuals with gain of function variants. \nSources: Literature",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T07:00:02.514994+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GABRB2 as ready",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T07:00:02.452823+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gabrb2 has been classified as Green List (High Evidence).",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-10-01T06:59:19.694926+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6286",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: GABRB2 were changed from to epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-09-30T15:50:10.695648+10:00",
"panel_name": "Limb-Girdle Muscular Dystrophy and Distal Myopathy",
"panel_id": 3071,
"panel_version": "1.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: JAG2 was added\ngene: JAG2 was added to Limb-Girdle Muscular Dystrophy and Distal Myopathy. Sources: Other\nMode of inheritance for gene: JAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAG2 were set to muscular dystrophy, limb-girdle, autosomal recessive 27 MONDO:0030456",
"entity_name": "JAG2",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:05:46.426215+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIAO1 as ready",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:05:46.411657+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciao1 has been classified as Green List (High Evidence).",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:05:38.958292+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIAO1 as Green List (high evidence)",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:05:38.944250+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ciao1 has been classified as Green List (High Evidence).",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:04:41.546824+10:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIAO1 was added\ngene: CIAO1 was added to Mitochondrial disease. Sources: Literature\nMode of inheritance for gene: CIAO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CIAO1 were set to 38411040; 38196629\nPhenotypes for gene: CIAO1 were set to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960\nReview for gene: CIAO1 was set to GREEN\nAdded comment: PMID:38196629 (note pre-print) describes 4 unrelated patients with core features of progressive muscle weakness, respiratory insufficiency, joint hyperlaxity, ankle tightness, calf pseudohypertrophy, elevated CK, and larning disabilities/difficulties. 2 patients presented with increased iron deposition in the brain. Age of recognition of myopathic symptoms varied from early childhood to adolescence. Muscle biopsy showed variation in fiber size and an increase in internalized nuclei, as well as scattered degenerating/regenerating fibers and a mild to minimal increase in endomysial fibrosis. Electron microscopy revealed morphologically abnormal mitochondria.\r\n\r\nPMID: 38411040 reports 2 unrelated patients. Patient 1 was born with microcephaly and borderline hypertonia, and died at 18 months of respiratory failure from bronchiolitis. Patient 2 presented with failure to thrive, a hyperkinetic movement disorder, and autism before deteriorating in late teens with muscle weakness, recurrent pneuomonia with respiratory insufficiency, and eventually death due to multi-organ failure with carnificating pneumonia, septic cardiomyopathy, and intracranial hemorrhages. Immune deficiency was ruled out.\r\n\r\nAll variants reported were homozygous or compound heterozygous missense variants, with the exception of one large in-frame deletion of exon 7. Cell line studies showed the variants resulted in reduced protein stability and downstream cellular defects which could be rescued by wild-type CIAO1. Electron microscopy of skeletal muscle demonstrated abnormal assembly of mitochondrial respiratory chain complexes. \nSources: Literature",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:02:56.379848+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.560",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIAO1 were changed from Neurodegenerative disease, MONDO:0005559, CIAO1-related to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:02:17.158675+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.559",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CIAO1: Changed phenotypes: Multiple mitochondrial dysfunctions syndrome 10, MIM#620960",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:01:54.354487+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIAO1 were changed from Neurodegenerative disease, MONDO:0005559, CIAO1-related to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:01:15.828384+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 10, MIM#620960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:00:54.803969+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2021",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIAO1 were changed from Neurodegenerative disease, MONDO:0005559, CIAO1-related to Multiple mitochondrial dysfunctions syndrome 10, MIM#620960",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T18:00:26.598835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CIAO1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Multiple mitochondrial dysfunctions syndrome 10, MIM#620960; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-09-28T17:55:42.642510+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREM2 were changed from Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; {Alzhieimer disease 17, susceptibility to}, MIM# 615080",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-09-28T17:55:15.713902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TREM2: Changed phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193, {Alzhieimer disease 17, susceptibility to}, MIM# 615080",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-09-28T17:54:46.609736+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TREM2 were changed from Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193 to Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193; {Alzhieimer disease 17, susceptibility to}, MIM# 615080",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-09-28T17:53:57.906311+10:00",
"panel_name": "Early-onset Dementia",
"panel_id": 24,
"panel_version": "1.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TREM2: Changed phenotypes: Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 2, MIM# 618193, {Alzhieimer disease 17, susceptibility to}, MIM# 615080",
"entity_name": "TREM2",
"entity_type": "gene"
},
{
"created": "2024-09-28T15:46:00.389599+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH1 were changed from Congenital myopathy MONDO:0019952 to Congenital myopathy 25, MIM# 620964",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-28T15:45:19.328290+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 25, MIM# 620964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-28T15:44:56.457937+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: JPH1 were changed from Congenital myopathy MONDO:0019952 to Congenital myopathy 25, MIM# 620964",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-28T15:44:29.969676+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: JPH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Congenital myopathy 25, MIM# 620964; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-28T10:33:23.718882+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6285",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: GABRB2 were set to ",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-09-28T10:21:52.190073+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6284",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GABRB2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-09-28T10:14:23.864690+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: GABRB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 38996765; Phenotypes: epileptic encephalopathy, infantile or early childhood, 2 MONDO:0020631; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "GABRB2",
"entity_type": "gene"
},
{
"created": "2024-09-28T08:42:19.067638+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.348",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: HK1 as ready",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2024-09-28T08:42:19.061656+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.348",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Caution mutliple phenotypes: \r\n\r\nAD phenotype Neurodevelopmental disorder with visual defects and brain anomalies MIM#618547\tcaused by recurrent variants likely causing gain-of-function c.1370C>T, c.1334C>T, c.1240G>A \r\n(PMID: 38617198)\r\n\r\nAR HMSNR Founder variant in the Roma, -3818-195G-C, AltT2 EXON in 5'UTR identified in multiple families.",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2024-09-28T08:42:19.011180+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.348",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: hk1 has been classified as Green List (High Evidence).",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2024-09-28T08:42:13.294539+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.348",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: HK1 were changed from Neuropathy, hereditary motor and sensory, Russe type, 605285 (3) to Hemolytic anemia due to hexokinase deficiency MIM#235700; Neuropathy, hereditary motor and sensory, Russe type, MIM#605285",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2024-09-28T08:38:33.555177+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.347",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: HK1 were set to ",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:42:17.597574+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.346",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ATP6V0A2 as ready",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:42:17.579970+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.346",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: atp6v0a2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:41:21.173777+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.346",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ATP6V0A2 were set to ",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:39:30.213634+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.345",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PNPO as ready",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:39:30.201070+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.345",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pnpo has been classified as Green List (High Evidence).",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:39:23.256290+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.345",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PNPO were set to ",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:38:14.414404+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.344",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: POMGNT1 as ready",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:38:14.408014+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.344",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Isolated RP presentation can start with night blindness in childhood.",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:38:14.346558+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.344",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pomgnt1 has been classified as Green List (High Evidence).",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:38:10.085982+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.344",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: POMGNT1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 3, 253280 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A3, MIM#253280; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B3, MIM#613151; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 3 MIM#613157",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:31:58.854757+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.343",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: POMGNT1 were set to ",
"entity_name": "POMGNT1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:29:42.754603+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.342",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PQBP1 as ready",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:29:42.721596+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.342",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pqbp1 has been classified as Green List (High Evidence).",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:29:38.064394+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.342",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PQBP1 were set to ",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:28:36.826089+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.341",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PRG4 as ready",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:28:36.813234+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.341",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: prg4 has been classified as Green List (High Evidence).",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:28:29.093266+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.341",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PRG4 were set to 10545950; 29397575",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2024-09-28T07:24:54.656780+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.340",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PRG4 were set to ",
"entity_name": "PRG4",
"entity_type": "gene"
},
{
"created": "2024-09-27T22:24:12.211462+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FUCA1 as ready",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-09-27T22:24:12.196921+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fuca1 has been classified as Green List (High Evidence).",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-09-27T22:21:10.402739+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6283",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FUCA1 were changed from to Fucosidosis MONDO:0009254",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-09-27T22:20:33.759536+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6282",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FUCA1 were set to ",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-09-27T22:19:30.082949+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6281",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FUCA1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-09-27T22:18:54.247799+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FUCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33266441; Phenotypes: Fucosidosis MONDO:0009254; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FUCA1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:30:35.139823+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXRED1 as ready",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:30:35.124524+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxred1 has been classified as Green List (High Evidence).",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:29:38.455355+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6280",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FOXRED1 were changed from to Mitochondrial disease MONDO:0044970",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:28:42.283823+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6279",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXRED1 were set to ",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:27:22.404469+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6278",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXRED1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:26:47.540675+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6277",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FOXRED1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31434271, 20818383, 20858599; Phenotypes: Mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:02:18.714683+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6277",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXG1 as ready",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2024-09-27T21:02:18.690765+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6277",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Green List (High Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:43:10.134462+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6277",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FOXG1 were changed from to FOXG1 disorder MONDO:0100040",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:41:55.934052+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6276",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FOXG1 were set to ",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:40:51.760198+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6275",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXG1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:39:26.555569+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FOXG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18571142, 19578037, 19564653, 28661489; Phenotypes: FOXG1 disorder MONDO:0100040; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:25:13.184872+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKTN as ready",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:25:13.159055+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fktn has been classified as Green List (High Evidence).",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:24:05.696115+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6274",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FKTN were changed from to Myopathy caused by variation in FKTN MONDO:0700067",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:23:10.524874+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6273",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FKTN were set to ",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:22:06.410861+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6272",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKTN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:21:26.304286+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FKTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301385; Phenotypes: Myopathy caused by variation in FKTN MONDO:0700067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FKTN",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:15:11.738020+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FKRP were set to ",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:14:24.597314+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:14:24.576238+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:13:48.973597+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to myopathy caused by variation in FKRP MONDO:0700066",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:13:44.442739+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FKRP as ready",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:13:44.423426+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fkrp has been classified as Green List (High Evidence).",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:13:27.142091+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6271",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from myopathy caused by variation in FKRP MONDO:0700066 to myopathy caused by variation in FKRP MONDO:0700066",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:12:59.031065+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6270",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FKRP were changed from to myopathy caused by variation in FKRP MONDO:0700066",
"entity_name": "FKRP",
"entity_type": "gene"
},
{
"created": "2024-09-27T19:12:47.479139+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FKRP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FKRP",
"entity_type": "gene"
}
]
}