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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=580",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=578",
"results": [
{
"created": "2023-07-21T18:30:51.526919+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAK3 as Green List (high evidence)",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:30:51.519320+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pak3 has been classified as Green List (High Evidence).",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:29:49.045010+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PAFAH1B1 as ready",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:29:49.037034+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:28:26.536280+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PAFAH1B1 as Green List (high evidence)",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:28:26.523391+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pafah1b1 has been classified as Green List (High Evidence).",
"entity_name": "PAFAH1B1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:27:38.567090+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NFIX as ready",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:27:38.558353+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfix has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:27:33.721028+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NFIX as Amber List (moderate evidence)",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:27:33.710119+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nfix has been classified as Amber List (Moderate Evidence).",
"entity_name": "NFIX",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:26:41.396532+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NAA10 as ready",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:26:41.385694+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Green List (High Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:26:37.723160+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NAA10 were changed from Microphthalmia, syndromic MIM#309800; Ogden syndrome MIM#300855 to Ogden syndrome MIM#300855",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:26:03.832782+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NAA10 as Green List (high evidence)",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:26:03.820989+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: naa10 has been classified as Green List (High Evidence).",
"entity_name": "NAA10",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:25:09.424267+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TL1 as ready",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:25:09.418681+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Note only detectable by appropriate assays (WGS, mtDNA sequencing).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:25:09.371468+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:24:37.549951+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MT-TL1 as ready",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:24:37.531388+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:24:34.795939+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MT-TL1 were changed from MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS MERRF MIM#545000; CYCLIC VOMITING SYNDROME WITH NEUROMUSCULAR DISEASE, INCLUDED CYCLIC VOMITING SYNDROME-PLUS, INCLUDED CVS-PLUS, INCLUDED MIM#500007; MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES MELAS MIM#540000; DIABETES AND DEAFNESS, MATERNALLY INHERITED MIDD MIM#520000 to MELAS MIM#540000",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:23:58.470949+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag mtDNA tag was added to gene: MT-TL1.",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:23:13.903821+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TL1 as Green List (high evidence)",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:23:13.881951+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:22:56.286851+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TL1 as Green List (high evidence)",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:22:56.265660+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:22:36.045038+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MT-TL1 as Green List (high evidence)",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:22:36.035805+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mt-tl1 has been classified as Green List (High Evidence).",
"entity_name": "MT-TL1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:12:32.791863+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UBE3B as ready",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:12:32.782758+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:12:28.610384+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UBE3B as Amber List (moderate evidence)",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:12:28.599182+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ube3b has been classified as Amber List (Moderate Evidence).",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:11:58.046185+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UBE3B was added\ngene: UBE3B was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: UBE3B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UBE3B were set to 23200864; 23687348; 37010288\nPhenotypes for gene: UBE3B were set to Kaufman oculocerebrofacial syndrome, OMIM:244450\nReview for gene: UBE3B was set to AMBER\nAdded comment: Although there are three unrelated cases associated with biallelic variants in UBE3B gene and reported with clefting, clefting has only been reported as a minor clinical indication. \r\n\r\nPMID:23687348 - One of two patients reported with biallelic variants in UBE3B in this study and one of four patients reported in PMID:23200864 and reviewed here had submucous cleft palate.\r\n\r\nDECIPHER database - One of three patients with homozygous sequence variants in UBE3B had median cleft palate. \nSources: Expert Review",
"entity_name": "UBE3B",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:08:56.332542+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCB1 as ready",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:08:56.311447+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:08:51.362084+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCB1 as Amber List (moderate evidence)",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:08:51.354182+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarcb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:08:42.332744+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCB1 was added\ngene: SMARCB1 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: SMARCB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCB1 were set to 25168959; 37010288\nPhenotypes for gene: SMARCB1 were set to Coffin-Siris syndrome 3, OMIM:614608\nReview for gene: SMARCB1 was set to AMBER\nAdded comment: Although there are 3 unrelated cases reported with cleft palate in total, these represent only a minor fraction of patients (from total of 23) reported with SMARCB1 variants. \r\n\r\nPMID:25168959 - Two of ten patients reported with Coffin-Siris syndrome and heterozygous variants in SMARCB1 had cleft palate. \r\n\r\nDECIPHER database - One of 13 patients identified with heterozygous sequence variants in SMARCB1 had cleft palate. \nSources: Expert Review",
"entity_name": "SMARCB1",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:06:55.838555+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NOTCH2 as ready",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:06:55.830881+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:06:51.848942+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NOTCH2 as Amber List (moderate evidence)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:06:51.841296+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: notch2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:06:41.408345+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH2 were set to 9188663; 30329210; 37010288\nPhenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome, OMIM:102500\nReview for gene: NOTCH2 was set to AMBER\nAdded comment: Although there are three cases reported with cleft lip/ palate or cleft of uvula, these are reported only in a minor proportion of patients.\r\n\r\nPMID:9188663 - An 8.5-year-old boy with NOTCH2 variant and Hajdu-Cheney syndrome was reported with cleft lip and palate. \r\n\r\nPMID:30329210 - A 32-year-old male patient with a de novo truncating variant in NOTCH2 and presenting with Hajdu-Cheney syndrome had high arched palate and cleft of uvula. \r\n\r\nDECIPHER database - One of seven patients with heterozygous sequence variants in NOTCH2 was identified with submucous cleft hard palate. \nSources: Expert Review",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:05:24.759623+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AUTS2 as ready",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:05:24.746890+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:05:20.218946+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AUTS2 as Amber List (moderate evidence)",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:05:20.211361+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: auts2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-07-21T18:05:11.464254+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUTS2 was added\ngene: AUTS2 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: AUTS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AUTS2 were set to 31788251; 37010288\nPhenotypes for gene: AUTS2 were set to Intellectual developmental disorder, autosomal dominant 26, MIM# 615834\nReview for gene: AUTS2 was set to AMBER\nAdded comment: There are a total of five cases reported with cleft lip/ palate. However, clefting has only been reported in less than 10% of patients with monoalellic variants in AUTS2 from the DECIPHER database.\r\n\r\nPMID:31788251 - A patient identified with a de novo heterozygous AUTS2 variant (c.1464_1467del ACTC/ p.Tyr488Ter) was reported with autism and cleft lip and palate. \r\n\r\nDECIPHER database - Of 44 patients reported with heterozygous sequence variants, 4 patients had cleft lip or cleft palate (2 - cleft palate; 1 - cleft soft palate; 1 - unilateral cleft lip). \nSources: Expert Review",
"entity_name": "AUTS2",
"entity_type": "gene"
},
{
"created": "2023-07-21T17:55:16.659847+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATRX as ready",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-07-21T17:55:16.648039+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-07-21T17:55:10.877057+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies. to Intellectual disability-hypotonic facies syndrome, X-linked, MIM#\t309580; Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-07-21T17:54:37.535939+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATRX as Green List (high evidence)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-07-21T17:54:37.526465+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atrx has been classified as Green List (High Evidence).",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-07-21T16:36:19.626218+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1C were changed from Hypertrophic cardiomyopathy; congenital heart defects; conduction abnormalities to Hypertrophic cardiomyopathy, MONDO:0005045, CACNA1C-related",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2023-07-21T16:34:57.415535+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CACNA1C as Amber List (moderate evidence)",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2023-07-21T16:34:57.399004+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1c has been classified as Amber List (Moderate Evidence).",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2023-07-21T16:34:29.743363+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CACNA1C: Added comment: Evidence only of association of a specific missense with HCM.; Changed rating: AMBER",
"entity_name": "CACNA1C",
"entity_type": "gene"
},
{
"created": "2023-07-21T16:10:41.511387+10:00",
"panel_name": "Cancer Predisposition_Paediatric",
"panel_id": 152,
"panel_version": "0.128",
"user_name": "Laura Raiti",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Cancer Predisposition_Paediatric. Sources: Literature\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: ATRX were set to PMID: 28371217, 29706636, 28371197\nPhenotypes for gene: ATRX were set to Osteosarcoma, mild to severe intellectual disability, facial, skeletal, urogenital, and hematopoietic anomalies.\nPenetrance for gene: ATRX were set to unknown\nReview for gene: ATRX was set to GREEN\nAdded comment: Early onset osteosarcoma and development of metachronous osteosarcoma tumours suggestive of cancer predisposition. \r\nSmall numbers but at least 3 unrelated individuals reported in literature. \nSources: Literature",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-07-21T14:41:13.402363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.972",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: RDH11: Rating: AMBER; Mode of pathogenicity: None; Publications: 24916380, 15634683, 30731079, 18326732, 34988992; Phenotypes: Retinal dystrophy, juvenile cataracts, and short stature syndrome, MIM# 616108; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RDH11",
"entity_type": "gene"
},
{
"created": "2023-07-21T14:33:47.153798+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5258",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: HCN2 was added\ngene: HCN2 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: HCN2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HCN2 were set to Febrile seizures, familial, 2 MIM#602477; Generalized epilepsy with febrile seizures plus, type 11 MIM#602477; {Epilepsy, idiopathic generalized, susceptibility to, 17}\tMIM#602477; Neurodevelopmental disorder (MONDO#0700092), HCN2-related\nReview for gene: HCN2 was set to AMBER\nAdded comment: ICG 2023 conference \r\n- cohort of 20 individuals where >80% had a form of intellectual disability (half were severe) and/or seizures. Some had isolated intellectual disability, especially those with a recurring de novo p.E478del.\r\n- Patients were both mono- and biallelic.\r\n- Monoallelic individuals had de novo missense and an inframe deletion. Biallelic individuals had a mix of missense and PTC \nSources: Other",
"entity_name": "HCN2",
"entity_type": "gene"
},
{
"created": "2023-07-21T09:53:40.215074+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOB as ready",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2023-07-21T09:53:40.202766+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Green List (High Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2023-07-21T09:53:36.102331+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALDOB as Green List (high evidence)",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2023-07-21T09:53:36.094329+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Green List (High Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2023-07-21T09:53:19.852711+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALDOB was added\ngene: ALDOB was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance, hereditary, MIM# 229600\nReview for gene: ALDOB was set to GREEN\nAdded comment: Well established gene-disease association.\r\n\r\nClinical symptoms of HFI include gastrointestinal distress (nausea, vomiting, diarrhea, abdominal pain, anorexia), jaundice, bleeding tendency, renal tubular dysfunction and metabolic disturbances following dietary exposure to fructose, sucrose, or sorbitol. If large quantities of fructose are ingested, lethargy, seizures, and/or progressive coma may ensue. Persistent fructose exposure can result in chronic growth restriction, failure to thrive, renal and hepatic failure, and risk of death.\r\n\r\nSymptoms appear in infancy at the time of weaning.\r\n\r\nTreatment: Lifelong dietary restriction of fructose, sucrose, and sorbitol.\r\n\r\nAssessed as 'strong actionability' by ClinGen.\r\n\r\nOf particular note, a 24% sucrose solution (routinely administered to hospitalized neonates for minor procedures) should not be given to neonates known to have HFI. This recommendation is supported by case reports of reported accidental and iatrogenic fructose infusion-related serious organ failure events and/or deaths.\r\n\r\nAlerts should be placed in the patient's chart or medical record to notify practitioners to the HFI diagnosis and to the medical risks associated with exposures to fructose and related metabolites. The patient is advised to wear at all times a medically approved alert bracelet/necklace that provides information about the diagnosis of HFI.\r\n\r\nEvidence from 50 patients presenting with confirmed and symptomatic HFI shows that upon dietary restriction of fructose, the improvement observed is dramatic: vomiting and gastrointestinal symptoms resolved nearly immediately, bleeding tendency resolves in ~24 hours, renal tubular dysfunction can resolve in as little as 3 days, and clinical and biological findings, with the exception of hepatomegaly, resolved within a few weeks. Normal growth occurred in 2-3 years. In the 50 symptomatic patients and 5 patients who received treatment from birth, liver enlargement persisted in spite of treatment and resolution of fibrosis. \nSources: Expert Review",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2023-07-20T17:56:54.134332+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.972",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SLC4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36806574; Phenotypes: Short QT syndrome 7, MIM#620231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-20T17:41:12.383006+10:00",
"panel_name": "Short QT syndrome",
"panel_id": 174,
"panel_version": "1.5",
"user_name": "Chern Lim",
"item_type": "entity",
"text": "reviewed gene: SLC4A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 36806574; Phenotypes: Short QT syndrome 7, MIM#620231; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "SLC4A3",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:57:40.912855+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARID1A as ready",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:57:40.901369+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:57:34.472408+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ARID1A as Amber List (moderate evidence)",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:57:34.461315+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arid1a has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:57:25.623411+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ARID1A was added\ngene: ARID1A was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: ARID1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID1A were set to 25168959; 37010288\nPhenotypes for gene: ARID1A were set to Coffin-Siris syndrome 2 (MIM#614607)\nReview for gene: ARID1A was set to AMBER\nAdded comment: Clefting is a minor feature on patients with monoallelic variants in ARID1A gene.\r\n\r\nPMID:25168959 - Two of eight patients with heterozygous variants in ARID1A gene had cleft palate. \r\n\r\nDECIPHER database - One of 26 patients with heterozygous sequence variants in ARID1A gene had cleft palate. \nSources: Expert Review",
"entity_name": "ARID1A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:49:56.976197+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ZC4H2 as ready",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:49:56.965199+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc4h2 has been classified as Green List (High Evidence).",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:49:53.115873+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZC4H2 as Green List (high evidence)",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:49:53.104781+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zc4h2 has been classified as Green List (High Evidence).",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:49:44.276830+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.225",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZC4H2 was added\ngene: ZC4H2 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: ZC4H2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ZC4H2 were set to 31206972; 37010288\nPhenotypes for gene: ZC4H2 were set to Wieacker-Wolff syndrome, MIM# 314580\nReview for gene: ZC4H2 was set to GREEN\nAdded comment: There are ten unrelated patients reported with cleft palate.\r\n\r\nPMID:31206972 - Of 42 families identified with de novo and inherited variants in ZC4H2 gene, eight patients had cleft palate in addition to several other clinical presentations. These included one patient with cleft palate from the DDD study (DECIPHER database)\r\n\r\nDECIPHER database - Of 13 patients with sequence variants, three patients had cleft palate. \r\n\r\nCleft palate has been recorded as one of the clinical presentations of female-restricted Wieacker-Wolff syndrome (MIM #301041) in OMIM. \nSources: Expert Review",
"entity_name": "ZC4H2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:47:35.212286+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: STAG2 as ready",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:47:35.203841+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag2 has been classified as Green List (High Evidence).",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:47:32.191998+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.224",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: STAG2 were set to ",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:47:18.638511+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: STAG2: Changed publications: 28296084, 29263825, 30158690, 31334757, 33014403, 37010288",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:46:46.992216+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: STAG2 as Green List (high evidence)",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:46:46.980563+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.223",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: stag2 has been classified as Green List (High Evidence).",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:46:39.197938+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.222",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAG2 was added\ngene: STAG2 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: STAG2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: STAG2 were set to Mullegama-Klein-Martinez syndrome, MIM#301022\nReview for gene: STAG2 was set to GREEN\nAdded comment: There are eight unrelated cases identified with cleft lip/ palate and two cases were identified with cleft soft palate or submucous cleft soft palate.\r\n\r\nPMID:33014403 - Two female patients identified with de novo variants in STAG2. One had cleft lip/ palate and other had cleft palate. In addition, five additional cases with cleft lip/ palate were also reported from literature review in this publication.\r\n\r\nDECIPHER database - Of ten patients with sequence variants in STAG2 gene, one each was identified with cleft palate, cleft soft palate and submucous cleft soft palate (PMID:37010288). \nSources: Expert Review",
"entity_name": "STAG2",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:45:24.479540+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMARCA4 as ready",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:45:24.466167+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:45:20.273669+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SMARCA4 as Green List (high evidence)",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:45:20.259994+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.221",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smarca4 has been classified as Green List (High Evidence).",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:45:11.892046+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.220",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCA4 was added\ngene: SMARCA4 was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: SMARCA4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCA4 were set to 25168959; 37010288\nPhenotypes for gene: SMARCA4 were set to Coffin-Siris syndrome 4, MIM# 614609\nReview for gene: SMARCA4 was set to GREEN\nAdded comment: There are five unrelated cases with cleft plate and one case each with submucous cleft palate and bifid uvula.\r\n\r\nPMID:25168959 - 4 of 12 patients with variants in SMARCA4 had cleft palate and another patient had submucous cleft palate.\r\n\r\nDECIPHER database - One of 22 patients with heterozygous sequence variants had cleft palate and another patient had bifid uvula (PMID:37010288) \nSources: Expert Review",
"entity_name": "SMARCA4",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:42:47.413010+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POGZ as ready",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:42:47.401194+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:42:43.138822+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POGZ as Amber List (moderate evidence)",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:42:43.130360+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.219",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pogz has been classified as Amber List (Moderate Evidence).",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:42:32.447150+10:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.218",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POGZ was added\ngene: POGZ was added to Clefting disorders. Sources: Expert Review\nMode of inheritance for gene: POGZ was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: POGZ were set to 26942287; 26739615\nPhenotypes for gene: POGZ were set to White-Sutton syndrome, MIM# 616364\nReview for gene: POGZ was set to AMBER\nAdded comment: Although there are more than three unrelated cases reported with either cleft palate or bifid uvula in total, this phenotype is not consistently present in patients with monoallelic variants in POGZ gene.\r\n\r\nPMID:26739615 - Five unrelated individuals were identified with de novo truncating variants in POGZ gene, of which one individual had cleft palate and another one had bifid uvula.\r\n\r\nPMID:31782611 - In this cohort of 22 individuals with 21 different loss of function variants in POGZ, two patients were reported with bifid uvula.\r\n\r\nDECIPHER database - Of 42 patients with heterozygous sequence variants, one had cleft palate and another one had bifid uvula (PMID:37010288). \nSources: Expert Review",
"entity_name": "POGZ",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:40:58.906003+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB2A as ready",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:40:58.896450+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2a has been classified as Green List (High Evidence).",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:40:53.692361+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TUBB2A as Green List (high evidence)",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:40:53.679731+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb2a has been classified as Green List (High Evidence).",
"entity_name": "TUBB2A",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:39:55.863915+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TUBB3 as ready",
"entity_name": "TUBB3",
"entity_type": "gene"
},
{
"created": "2023-07-20T15:39:55.853368+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tubb3 has been classified as Green List (High Evidence).",
"entity_name": "TUBB3",
"entity_type": "gene"
}
]
}