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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=398",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=396",
"results": [
{
"created": "2024-09-05T17:15:14.867405+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DHTKD1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:14:37.122109+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DHTKD1 as Amber List (moderate evidence)",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-09-05T17:14:37.102020+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dhtkd1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "DHTKD1",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:42:19.986869+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DCX as ready",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:42:19.968421+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dcx has been classified as Green List (High Evidence).",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:42:00.999794+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DCX were changed from to Lissencephaly, X-linked, MIM# 300067; Subcortical laminal heterotopia, X-linked 300067",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:41:15.761230+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCX were set to 26743950; 11468322; 20726879; 20301364; 12552055; 9489699",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:40:38.987447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DCX were set to ",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:39:47.013423+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DCX was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:38:48.222350+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DARS2 as ready",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:38:48.205408+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dars2 has been classified as Green List (High Evidence).",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:38:43.160765+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DARS2 were changed from to Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:36:44.584856+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DARS2 were set to ",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:35:55.143082+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DARS2",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:34:52.013368+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: D2HGDH as ready",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:34:51.984122+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: d2hgdh has been classified as Green List (High Evidence).",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:34:37.209338+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: D2HGDH were changed from to D-2-hydroxyglutaric aciduria MIM#600721",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:33:54.806305+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: D2HGDH were set to ",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:33:19.762975+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.262",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CFH: Rating: AMBER; Mode of pathogenicity: None; Publications: 7742208, 9312129, 10803850, 14978182; Phenotypes: Complement factor H deficiency, 609814 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:33:12.230862+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: D2HGDH was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:32:04.642930+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: D2HGDH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:29:54.496287+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:29:48.388936+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COX15 as ready",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:29:48.352121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cox15 has been classified as Green List (High Evidence).",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:29:18.968774+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119 to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:28:42.902937+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COX15 were changed from to Mitochondrial complex IV deficiency, nuclear type 6, MIM# 615119",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2024-09-05T16:08:39.806425+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.262",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CSTB: Rating: AMBER; Mode of pathogenicity: None; Publications: 9012407; Phenotypes: Epilepsy, progressive myoclonic 1A (Unverricht and Lundborg), 254800 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CSTB",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:50:53.486672+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1995",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:50:53.461869+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1995",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:43:46.629659+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6134",
"user_name": "Mark Cleghorn",
"item_type": "entity",
"text": "gene: GPN2 was added\ngene: GPN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: GPN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPN2 were set to complex neurodevelopmental disorder MONDO:0100038; Perrault syndrome\nReview for gene: GPN2 was set to AMBER\nAdded comment: GPN2\r\nESHG talk 2/6/24, unpublished\r\nThomas Smith, University of Manchester\r\n\r\nBiallelic GPN2 proposed to cause Perrault syndrome (SNHL, ovarian dysfunction, NDD)\r\nRNA polymerase assembly factor\r\n\r\n4 families (14 affected individuals) w biallalic GPN2 rare missense variants\r\nSegregated w phenotype\r\nFam 2 and 3 may be distantly related (leaving 3 distinct kindreds)\r\n\r\nClinical features\r\n13/14 SNHL\r\n3/4 families all females of adolescent age or older had primary ovarian insufficiency\r\n4/4 GDD, ataxia (no data on family w 10 affected indiv.)\r\n\r\nSome functional work, not conclusive \nSources: Other",
"entity_name": "GPN2",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:42:30.269616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1C1 as ready",
"entity_name": "ATP6V1C1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:42:30.249429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1c1 has been classified as Red List (Low Evidence).",
"entity_name": "ATP6V1C1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:42:04.417242+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1C1 as ready",
"entity_name": "ATP6V1C1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:42:04.399632+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1c1 has been classified as Red List (Low Evidence).",
"entity_name": "ATP6V1C1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:41:47.653547+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1C1 was added\ngene: ATP6V1C1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ATP6V1C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V1C1 were set to 39210597\nPhenotypes for gene: ATP6V1C1 were set to neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related\nReview for gene: ATP6V1C1 was set to RED\nAdded comment: 1x de novo missense p.Glu289Lys (absent in v4 gnomad). Manual inspection of IGV found the dad was mosaic 7% VAF and he shared some of the clinical features (minor digit anomalies). Some functional studies using patient fibroblasts were performed, demonstrating similar effects as known pathogenic variants in ATP6V1B2. - lysosomal morphology - autophagic flux dysregulation - increased acidification of lysosome borderline red/amber \nSources: Literature",
"entity_name": "ATP6V1C1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:40:58.573970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP6V1C1 were changed from to neurodevelopmental disorder MONDO:0700092, ATP6V1C1-related",
"entity_name": "ATP6V1C1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:38:06.114937+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf66 as ready",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:38:06.098294+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf66 has been classified as Green List (High Evidence).",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:37:52.253749+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C12orf66 as Green List (high evidence)",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:37:52.238366+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf66 has been classified as Green List (High Evidence).",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:37:04.687369+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: C12orf66 as ready",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:37:04.672119+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf66 has been classified as Green List (High Evidence).",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:36:54.523030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: C12orf66 as Green List (high evidence)",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:36:54.510048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: c12orf66 has been classified as Green List (High Evidence).",
"entity_name": "C12orf66",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:36:43.044945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1992",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: RFC4 was added\ngene: RFC4 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RFC4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RFC4 were set to PMID: 39106866\nPhenotypes for gene: RFC4 were set to RFC4-related multisystem disorder\nReview for gene: RFC4 was set to GREEN\ngene: RFC4 was marked as current diagnostic\nAdded comment: 9 affected individuals (aged birth to 47yrs) from 8 unrelated families with a multisystem disorder. Clinical features included: muscle weakness/myopathy (9/9), motor incoordination/gait disturbance (8/8), delayed gross motor development (6/9), dysarthria (5/5), peripheral neuropathy (3/3 adults), bilateral sensorineural hearing impairment (6/9), decreased body weight (8/9), short stature (5/9), microcephaly (4/9), respiratory issues/insufficiency (6/9), cerebellar atrophy (4/9), pituitary hypoplasia (3/9).\r\n\r\nWES or WGS identified biallelic loss-of-function variants in RFC4 (3 frameshift, 2 splice site, 1 single AA duplication, 2 single AA deletions, 2 missense), and almost all are likely to disrupt the C-terminal domain indispensable for Replication factor C (RFC) complex formation. All variants segregated with the disease.\r\n\r\nThe RFC complex (with 5 subunits) is central to process of regulation of DNA replication, and it loads proliferating cell nuclear antigen onto DNA to facilitate the recruitment of replication and repair proteins and enhance DNA polymerase processivity. RFC1 is associated with CANVAS but the contributions of RFC2-5 subunits on human Mendelian disorders is unknown.\r\n\r\nAnalysis of a previously determined cryo-EM structure of RFC bound to proliferating cell nuclear antigen suggested that the variants disrupt interactions within RFC4 and/or destabilize the RFC complex. Cellular studies using RFC4-deficient HeLa cells and primary fibroblasts demonstrated decreased RFC4 protein, compromised stability of the other RFC complex subunits, and perturbed RFC complex formation. Additionally, functional studies of the RFC4 variants affirmed diminished RFC complex formation, and cell cycle studies suggested perturbation of DNA replication and cell cycle progression. \nSources: Literature",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:35:03.160761+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COQ8B were changed from Nephrotic syndrome, type 9 MIM#615573 to Nephrotic syndrome, type 9 MIM#615573; Retinitis pigmentosa MONDO:0019200",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:34:39.025455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1990",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COQ8B were set to 24270420",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:32:49.673325+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF3B1 as Green List (high evidence)",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:32:49.651588+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1989",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b1 has been classified as Green List (High Evidence).",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:32:24.578553+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B1 as ready",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:32:24.553988+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b1 has been classified as Green List (High Evidence).",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:32:16.379719+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF3B1 as Green List (high evidence)",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:32:16.365780+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b1 has been classified as Green List (High Evidence).",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:31:19.820894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SF3B1 as ready",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:31:19.806191+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:31:09.773174+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SF3B1 as Amber List (moderate evidence)",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:31:09.747945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1988",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sf3b1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SF3B1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:28:38.166655+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH1 as Green List (high evidence)",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:28:38.127525+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph1 has been classified as Green List (High Evidence).",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:28:08.864005+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH1 as Green List (high evidence)",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:28:08.832216+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph1 has been classified as Green List (High Evidence).",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:28:07.929373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JPH1 as ready",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:28:07.908342+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph1 has been classified as Green List (High Evidence).",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:27:57.181030+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH1 as Green List (high evidence)",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:27:57.162824+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1987",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph1 has been classified as Green List (High Evidence).",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:27:23.215726+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:27:23.191961+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:27:17.890973+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: JPH1 as ready",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:27:17.870379+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph1 has been classified as Green List (High Evidence).",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:53.110899+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: JPH1 as Green List (high evidence)",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:53.074801+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: jph1 has been classified as Green List (High Evidence).",
"entity_name": "JPH1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:31.436089+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:31.420326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:05.992890+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:05.922475+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:05.892883+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:26:05.833783+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:25:16.997764+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:25:16.980387+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6131",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:24:42.861258+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:24:42.837396+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.198",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:24:34.827638+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: RFC4 as Green List (high evidence)",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:24:34.753904+10:00",
"panel_name": "Muscular dystrophy and myopathy_Paediatric",
"panel_id": 141,
"panel_version": "1.69",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: rfc4 has been classified as Green List (High Evidence).",
"entity_name": "RFC4",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:24:14.125014+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:24:14.109451+10:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:23:15.179175+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED22 as ready",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:23:15.164280+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:23:08.946446+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED22 as Amber List (moderate evidence)",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:23:08.929360+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:22:20.138219+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED22 as ready",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:22:20.124716+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:22:10.858813+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MED22 as Amber List (moderate evidence)",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:22:10.841199+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1986",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med22 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MED22",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:20:33.425569+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARP1 as ready",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:20:33.400715+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp1 has been classified as Green List (High Evidence).",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:20:20.226773+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARP1 as Green List (high evidence)",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:20:20.213448+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp1 has been classified as Green List (High Evidence).",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:19:35.217453+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARP1 as ready",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:19:35.202864+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: larp1 has been classified as Green List (High Evidence).",
"entity_name": "LARP1",
"entity_type": "gene"
},
{
"created": "2024-09-05T15:19:23.834371+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1985",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LARP1 as Green List (high evidence)",
"entity_name": "LARP1",
"entity_type": "gene"
}
]
}