HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=539",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=537",
"results": [
{
"created": "2023-10-05T13:27:01.226237+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf4 has been classified as Green List (High Evidence).",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:26:56.952705+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5531",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TCF4 were changed from to Pitt-Hopkins syndrome MONDO:0012589",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:26:21.654617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5530",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TCF4 were set to ",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:25:46.043745+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5529",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF4 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCF4",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:25:26.878699+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5528",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: GREEN; Mode of pathogenicity: None; Publications: 17273977; Phenotypes: Matthew-Wood syndrome MONDO:0011010; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:24:44.547161+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:24:44.524115+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Green List (High Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:24:39.732968+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5528",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from to Developmental and epileptic encephalopathy 16, MIM#\t615338; DOORS syndrome, MIM#\t220500",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:23:56.206645+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5527",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TBC1D24 were set to ",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:23:23.861548+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5526",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TBC1D24 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:22:37.481139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:22:37.465787+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: taz has been classified as Green List (High Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:22:33.305148+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5525",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAZ were changed from to Barth syndrome MONDO:0010543",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:16:15.454759+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5524",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27905812; Phenotypes: developmental and epileptic encephalopathy, 4 MONDO:0012812; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:14:16.078068+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5524",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAZ were set to ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:13:43.106138+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5523",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAZ was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:12:56.055077+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TAT as ready",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:12:56.043175+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tat has been classified as Green List (High Evidence).",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:12:51.832842+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5522",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TAT were changed from to tyrosinemia type II MONDO:0010160",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:12:18.841190+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5521",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TAT were set to ",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:11:44.471359+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5520",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:10:32.383474+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TANGO2 as ready",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:10:32.372338+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tango2 has been classified as Green List (High Evidence).",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:10:16.959561+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5519",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TANGO2 were changed from to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration, MIM#\t616878; metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration MONDO:0014812",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:09:01.070028+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5518",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TANGO2 were set to ",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:08:23.047863+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5517",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TANGO2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:07:55.135732+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5516",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "changed review comment from: NF1 shows a high degree of phenotypic variability. Intellectual disability has been shown to occur in 4%-8% of cases, typically appearing in childhood and persisting through life (PMID: 23931823, 10762507).; to: NF1 shows a high degree of phenotypic variability. Intellectual disability has been shown to occur in 4%-8% of cases, typically appearing in childhood and persisting through life (PMID: 23931823, 10762507).",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:07:37.427256+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5516",
"user_name": "Claire Fryer-Smith",
"item_type": "entity",
"text": "reviewed gene: NF1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23931823, 10762507; Phenotypes: Neurofibromatosis, type 1 (MIM#162200); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "NF1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:07:27.290483+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5516",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: SUOX: Rating: GREEN; Mode of pathogenicity: None; Publications: 28933809; Phenotypes: isolated sulfite oxidase deficiency MONDO:0010089; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:02:42.318249+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTM1 as ready",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:02:42.307030+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:02:39.808298+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTM1 were changed from X-linked myotubular myopathy to Myopathy, centronuclear, X-linked, MIM# 310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:02:27.763601+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MTM1 as Amber List (moderate evidence)",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:02:27.743713+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtm1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:02:18.429930+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MTM1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:00:49.306834+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SYN1 as ready",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:00:49.283195+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: syn1 has been classified as Green List (High Evidence).",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:00:43.989088+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5516",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SYN1 were changed from to X-linked complex neurodevelopmental disorder MONDO:0100148; epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2023-10-05T13:00:08.270807+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5515",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SYN1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:58:47.018117+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLS3 were changed from Bone mineral density QTL18, osteoporosis - MIM#300910 to Bone mineral density QTL18, osteoporosis - MIM#300910; congenital diaphragmatic hernia MONDO:0005711, PLS3-related",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:58:25.003697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:58:04.231730+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PLS3 was changed from X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males) to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:57:47.303113+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5514",
"user_name": "Kaitlyn Dianna Weldon",
"item_type": "entity",
"text": "reviewed gene: SYN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148, epilepsy, X-linked 1, with variable learning disabilities and behavior disorders MONDO:0010339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:57:41.786599+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PLS3: Added comment: PMID 37751738: 8 unrelated families with affected males with an X-linked condition characterised by diaphragm defects, variable anterior body-wall anomalies, and/or facial dysmorphism. All were missense variants. A mouse knock in model of a variant identified in one of the CDH-affected families, c.1497G>C (p.Trp499Cys), shows partial perinatal lethality and recapitulates the key findings of the human phenotype, including diaphragm and abdominal-wall defects. Gain-of-function is a suggested mechanism.; Changed publications: 32655496, 25209159, 29736964, 29884797, 28777485, 24088043, 37751738; Changed phenotypes: Bone mineral density QTL18, osteoporosis - MIM#300910, congenital diaphragmatic hernia MONDO:0005711, PLS3-related; Changed mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:55:42.099476+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.20",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters. \r\nSources: Literature; to: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters. \r\nSources: Literature",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:54:24.133627+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFCAB7 as ready",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:54:24.121724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efcab7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:52:25.761791+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.155",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: PLS3 were changed from Bone mineral density QTL18, osteoporosis - MIM#300910 to Bone mineral density QTL18, osteoporosis - MIM#300910; congenital diaphragmatic hernia MONDO:0005711, PLS3-related",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:52:18.402017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.154",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Publications for gene: PLS3 were set to 32655496; 25209159; 29736964; 29884797; 28777485; 24088043",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:52:04.029361+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: PLS3 as Green List (high evidence)",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:52:04.019760+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.153",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Green List (High Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:51:10.867561+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.20",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "edited their review of gene: MTM1: Changed rating: AMBER; Changed phenotypes: Myopathy, centronuclear, X-linked, MIM# 310400",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:50:02.596526+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.152",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "reviewed gene: PLS3: Rating: GREEN; Mode of pathogenicity: None; Publications: 37751738; Phenotypes: congenital diaphragmatic hernia MONDO:0005711, PLS3-related; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:48:53.461546+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.20",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "changed review comment from: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters. \nSources: Literature; to: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters. \r\nSources: Literature",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:48:51.031842+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.152",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280); eurodevelopmental disorder (MONDO:0700092), MYCN-related to Feingold syndrome 1 (MIM#164280); Neurodevelopmental disorder (MONDO:0700092), MYCN-related",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:48:35.548053+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Added comment: Comment on phenotypes: Three individuals now reported with gain-of-function missense variants (identical variant in two individuals). Clinical presentation includes megalencephaly, hypoplastic corpus callosum, postaxial polydactyly, intellectual disability and motor delay. Knock-in mouse model showed morphological manifestations in multiple tissues including digits, female reproductive system and kidney.",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:48:35.482735+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.151",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Feingold syndrome 1 (MIM#164280) to Feingold syndrome 1 (MIM#164280); eurodevelopmental disorder (MONDO:0700092), MYCN-related",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:48:29.200662+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.20",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "gene: MTM1 was added\ngene: MTM1 was added to Liver Failure_Paediatric. Sources: Literature\nMode of inheritance for gene: MTM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MTM1 were set to PMID: 37490339\nPhenotypes for gene: MTM1 were set to X-linked myotubular myopathy\nAdded comment: Functional studies using a zebrafish model of X-linked myotubular myopathy showed that loss-of-function mutations in the MTM1 gene led to severe liver abnormalities including impaired bile flux, structural abnormalities of the bile canaliculus, and improper endosome-mediated trafficking of canalicular transporters. \nSources: Literature",
"entity_name": "MTM1",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:48:25.313499+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.150",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: MYCN were set to 18470948",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:47:18.589246+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: PLS3 as ready",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:47:18.576167+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Green List (High Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:46:41.260593+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: PLS3 as Green List (high evidence)",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:46:41.249383+11:00",
"panel_name": "Congenital diaphragmatic hernia",
"panel_id": 69,
"panel_version": "1.13",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: pls3 has been classified as Green List (High Evidence).",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:46:34.132837+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFCAB7 as Amber List (moderate evidence)",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:46:34.116372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efcab7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:45:54.504530+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFCAB7 as ready",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:45:54.479187+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efcab7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:45:40.922327+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EFCAB7 as Amber List (moderate evidence)",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:45:40.910344+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: efcab7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EFCAB7",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:45:19.653473+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MYCN as Green List (high evidence)",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:45:19.644852+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.268",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:53.200335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1262",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Feingold syndrome 1; megalencephaly; ventriculomegaly; hypoplastic corpus callosum; intellectual disability; polydactyly; neuroblastoma to Neurodevelopmental disorder (MONDO:0700092), MYCN-related; Feingold syndrome 1 MIM#164280",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:27.595411+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDC23 as ready",
"entity_name": "CDC23",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:27.583638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc23 has been classified as Green List (High Evidence).",
"entity_name": "CDC23",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:22.409144+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1261",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: MYCN were set to 21224895; 8470948; 30573562",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:19.328278+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MYCN as Green List (high evidence)",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:19.316842+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.267",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:09.206430+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDC23 as Green List (high evidence)",
"entity_name": "CDC23",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:09.194051+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdc23 has been classified as Green List (High Evidence).",
"entity_name": "CDC23",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:02.492842+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: MYCN as ready",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:44:02.462924+11:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.266",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mycn has been removed from the panel.",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:43:20.332079+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.134",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: MYCN were changed from Neurodevelopmental disorder with megalencephaly to Neurodevelopmental disorder (MONDO:0700092), MYCN-related",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:43:08.871496+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1931",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:43:08.857435+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1931",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:48.616892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1259",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Marked gene: CFAP20 as ready",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:48.599638+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1259",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfap20 has been classified as Green List (High Evidence).",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:47.233935+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SEC24D as ready",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:47.220073+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Red List (Low Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:44.069344+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.133",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: MYCN were set to 30573562",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:40.908967+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SEC24D as Red List (low evidence)",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:40.827710+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sec24d has been classified as Red List (Low Evidence).",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:36.631033+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1259",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Phenotypes for gene: CFAP20 were changed from Retinitis pigmentosa (MONDO:0019200) to Retinitis pigmentosa (MONDO:0019200), CFAP20-related",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:22.478000+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.133",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: MYCN as Green List (high evidence)",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:22.448067+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.133",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: mycn has been classified as Green List (High Evidence).",
"entity_name": "MYCN",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:09.191588+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1931",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:42:09.161648+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1931",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:41:40.853019+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1258",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Classified gene: CFAP20 as Green List (high evidence)",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:41:40.840496+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1258",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "Gene: cfap20 has been classified as Green List (High Evidence).",
"entity_name": "CFAP20",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:41:05.838518+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1257",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: COG3 as Amber List (moderate evidence)",
"entity_name": "COG3",
"entity_type": "gene"
},
{
"created": "2023-10-05T12:41:05.826108+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1257",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: cog3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "COG3",
"entity_type": "gene"
}
]
}