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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=482",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=480",
"results": [
{
"created": "2024-03-08T14:56:58.710976+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSCAN10 as ready",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:56:58.702432+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zscan10 has been classified as Green List (High Evidence).",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:56:32.965358+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSCAN10 as Green List (high evidence)",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:56:32.943365+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zscan10 has been classified as Green List (High Evidence).",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:40:00.357063+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZSCAN10 as ready",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:40:00.341207+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zscan10 has been classified as Green List (High Evidence).",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:36:38.165717+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZSCAN10 as Green List (high evidence)",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:36:38.151469+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5720",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zscan10 has been classified as Green List (High Evidence).",
"entity_name": "ZSCAN10",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:35:31.092921+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SNUPN were changed from autosomal recessive limb-girdle muscular dystrophy MONDO:0015152 to autosomal recessive limb-girdle muscular dystrophy MONDO:0015152, SNUPN-related",
"entity_name": "SNUPN",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:32:10.772072+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1604",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CORIN were changed from Preeclampsia/eclampsia 5 MIM#614595; ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734) to Preeclampsia/eclampsia 5 MIM#614595; Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:31:37.659927+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1603",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CORIN were set to 22437503",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:31:14.067422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1602",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CORIN were changed from Preeclampsia/eclampsia 5 MIM#614595 to Preeclampsia/eclampsia 5 MIM#614595; ?Cardiomyopathy, familial hypertrophic, 30, atrial (MIM:620734)",
"entity_name": "CORIN",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:24:30.227681+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DIP2C as Green List (high evidence)",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:24:30.218671+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2334",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Green List (High Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:23:52.093331+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DIP2C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder (MONDO#0700092), DIP2C-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:17:16.403472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELSR3 as ready",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:17:16.395560+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:16:55.912613+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELSR3 as Green List (high evidence)",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:16:55.904656+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:16:32.359055+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CELSR3: Changed rating: GREEN",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:16:01.550324+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CELSR3 was added\ngene: CELSR3 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CELSR3 were set to 38429302\nPhenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related\nAdded comment: PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). 8/12 has ID/DD. Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals \nSources: Literature",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:14:09.090885+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELSR3 as ready",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:14:09.082474+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:13:59.274470+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELSR3 as Green List (high evidence)",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:13:59.264462+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:10:30.806056+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CELSR3 was added\ngene: CELSR3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic. Sources: Literature\nMode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CELSR3 were set to 38429302\nPhenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related\nReview for gene: CELSR3 was set to GREEN\nAdded comment: PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). 8/12 has ID/DD. Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals. \nSources: Literature",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:08:54.032815+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CHD7 as ready",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:08:54.023872+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: chd7 has been classified as Green List (High Evidence).",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:08:51.689403+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CHD7 were changed from to CHARGE syndrome MIM#214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:08:18.963523+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CHD7 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:07:47.749215+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CHD7: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: CHARGE syndrome MIM#214800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:07:05.215971+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACE as ready",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:07:05.191517+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ace has been classified as Green List (High Evidence).",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:06:55.928078+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:05:51.295108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELSR3 as ready",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:05:51.282955+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:05:29.226561+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELSR3 as Green List (high evidence)",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:05:29.214073+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5719",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:04:50.226255+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CELSR3 as ready",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:04:50.211884+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:04:41.445138+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CELSR3 as Green List (high evidence)",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:04:41.433799+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1601",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: celsr3 has been classified as Green List (High Evidence).",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:02:53.098609+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIAO1 as ready",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:02:53.089710+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.547",
"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": "2024-03-08T14:02:46.143818+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.547",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIAO1 as Green List (high evidence)",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T14:02:46.129671+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.547",
"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": "2024-03-08T14:02:11.055472+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.546",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CIAO1 was added\ngene: CIAO1 was added to Regression. 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 Neurodegenerative disease, MONDO:0005559, CIAO1-related\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. \nSources: Literature",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:59:27.034982+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIAO1 as ready",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:59:27.025243+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1600",
"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": "2024-03-08T13:59:19.698434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1600",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIAO1 were changed from Neuromuscular disease, CIAO1-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, CIAO1-related",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:58:36.440902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1599",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIAO1 as Green List (high evidence)",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:58:36.432406+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1599",
"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": "2024-03-08T13:58:11.857521+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIAO1 were changed from Neuromuscular disease, CIAO1-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, CIAO1-related",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:57:25.574812+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIAO1 were changed from Neurodegenerative disease, MONDO:0005559, CIAO1-related to Neuromuscular disease, CIAO1-related (MONDO:0019056)",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:56:51.381942+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CIAO1 as ready",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:56:51.368216+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.17",
"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": "2024-03-08T13:56:44.028303+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CIAO1 were changed from Neuromuscular disease, CIAO1-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, CIAO1-related",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:55:46.921251+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CIAO1 as Green List (high evidence)",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:55:46.913158+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.16",
"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": "2024-03-08T13:54:03.046516+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMS19 as ready",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:54:03.034487+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mms19 has been classified as Red List (Low Evidence).",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:53:54.045324+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.545",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMS19 was added\ngene: MMS19 was added to Regression. Sources: Literature\nMode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMS19 were set to 38411040\nPhenotypes for gene: MMS19 were set to Neurodegenerative disease, MONDO:0005559, MMS19-related\nReview for gene: MMS19 was set to RED\nAdded comment: Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model showed Mms19 deficiency had detrimental effects on development. \nSources: Literature",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:52:21.524000+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMS19 as ready",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:52:21.509193+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mms19 has been classified as Red List (Low Evidence).",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:52:18.239836+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2333",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMS19 were changed from Neuromuscular disease, MMS19-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, MMS19-related",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:51:47.723688+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMS19 as Red List (low evidence)",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:51:47.713195+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2332",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mms19 has been classified as Red List (Low Evidence).",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:50:48.015584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMS19 as ready",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:50:48.006533+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mms19 has been classified as Red List (Low Evidence).",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:50:41.053553+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1598",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMS19 were changed from Neuromuscular disease, MMS19-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, MMS19-related",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:50:22.505612+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMS19 as Red List (low evidence)",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:50:22.482163+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1597",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mms19 has been classified as Red List (Low Evidence).",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:43:10.591855+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMS19 as Red List (low evidence)",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:43:10.579112+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mms19 has been classified as Red List (Low Evidence).",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:42:43.322473+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMS19 as ready",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:42:43.296265+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mms19 has been removed from the panel.",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T13:42:40.348537+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMS19 were changed from Neuromuscular disease, MMS19-related (MONDO:0019056) to Neurodegenerative disease, MONDO:0005559, MMS19-related",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:26:15.062333+11:00",
"panel_name": "Hereditary Neuropathy - complex",
"panel_id": 3070,
"panel_version": "1.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:25:48.493998+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:25:08.456333+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2331",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:24:20.770268+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:24:05.697583+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NARS: Changed rating: GREEN",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:23:48.316377+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1596",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:23:20.713468+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NARS: Changed rating: GREEN",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-08T09:23:11.470038+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: AR disorder: assessed as LIMITED by ClinGen (borderline MODERATE).; to: Both MOIs assessed as MODERATE by ClinGen.",
"entity_name": "NARS",
"entity_type": "gene"
},
{
"created": "2024-03-07T16:36:11.300601+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.13",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: MMS19 was added\ngene: MMS19 was added to Muscular dystrophy and myopathy_Paediatric. Sources: Literature\nMode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMS19 were set to 38411040\nPhenotypes for gene: MMS19 were set to Neuromuscular disease, MMS19-related (MONDO:0019056)\nReview for gene: MMS19 was set to RED\ngene: MMS19 was marked as current diagnostic\nAdded comment: Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model showed Mms19 deficiency had detrimental effects on development. \nSources: Literature",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-07T16:31:44.308983+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2331",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: MMS19 was added\ngene: MMS19 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMS19 were set to 38411040\nPhenotypes for gene: MMS19 were set to Neuromuscular disease, MMS19-related (MONDO:0019056)\nReview for gene: MMS19 was set to RED\ngene: MMS19 was marked as current diagnostic\nAdded comment: Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model showed Mms19 deficiency had detrimental effects on development. \nSources: Literature",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-07T13:32:00.826326+11:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.13",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: CIAO1 was added\ngene: CIAO1 was added to Muscular dystrophy and myopathy_Paediatric. 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 Neuromuscular disease, CIAO1-related (MONDO:0019056)\nPenetrance for gene: CIAO1 were set to unknown\nReview for gene: CIAO1 was set to GREEN\ngene: CIAO1 was marked as current diagnostic\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. \nSources: Literature",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-07T13:31:17.750354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1596",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: 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. \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. \nSources: Literature; to: 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. ",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-07T13:27:21.627656+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1596",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: MMS19 was added\ngene: MMS19 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: MMS19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMS19 were set to 38411040\nPhenotypes for gene: MMS19 were set to Neuromuscular disease, MMS19-related (MONDO:0019056)\nPenetrance for gene: MMS19 were set to unknown\nReview for gene: MMS19 was set to RED\ngene: MMS19 was marked as current diagnostic\nAdded comment: Single patient reported with postnatal microcephaly, bilateral cataracts, failure to thrive, progressive spastic tetraparesis, scoliosis, myoclonic epilepsy and precocious puberty. Cerebral MRI at age 4 years showed pontocerebellar atrophy and white matter abnormalities. Patient died age 13 after recurrent respiratory tract infections. A homozygous in-frame deletion p.(Glu213del) was identified. Cell line studies supported pathogenicity of the variant. A zebrafish knockout model also showed a detrimental effect of Mms19 deficincy. \nSources: Literature",
"entity_name": "MMS19",
"entity_type": "gene"
},
{
"created": "2024-03-07T13:06:19.224701+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1596",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: CIAO1 was added\ngene: CIAO1 was added to Mendeliome. 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 Neuromuscular disease, CIAO1-related (MONDO:0019056)\nPenetrance for gene: CIAO1 were set to unknown\nReview for gene: CIAO1 was set to GREEN\ngene: CIAO1 was marked as current diagnostic\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. \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. \nSources: Literature",
"entity_name": "CIAO1",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:33:23.194317+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A9 as ready",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:33:23.184381+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:32:46.053929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC12A9 as Green List (high evidence)",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:32:46.044436+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5718",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a9 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A9",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:05:41.453959+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5717",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: CELSR3 was added\ngene: CELSR3 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CELSR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CELSR3 were set to PMID: 38429302\nPhenotypes for gene: CELSR3 were set to Neurodevelopmental disorder (MONDO#0700092), CELSR3-related\nReview for gene: CELSR3 was set to GREEN\nAdded comment: PMID: 38429302:12 affected individuals from 11 families reported with bi-allelic variants. Phenotype ranged from CNS anomalies (7/12), CNS and CAKUT (3/12) and CAKUT only (2/12). 8/12 has ID/DD. Only missense variants reported and 1 inframe variant. Functional studies done in zebrafish demonstrate similar structural anomalies of the developing pronephros and neuronal abnormalities to affected individuals \nSources: Literature",
"entity_name": "CELSR3",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:05:37.332274+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2331",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: DIP2C as ready",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:05:37.322890+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2331",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:05:12.301484+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2331",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: DIP2C as Amber List (moderate evidence)",
"entity_name": "DIP2C",
"entity_type": "gene"
},
{
"created": "2024-03-07T12:05:12.288098+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.2331",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: dip2c has been classified as Amber List (Moderate Evidence).",
"entity_name": "DIP2C",
"entity_type": "gene"
}
]
}