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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=406",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=404",
"results": [
{
"created": "2024-08-16T08:24:02.946646+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.242",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: pskh1 has been classified as Green List (High Evidence).",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:22:47.640132+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.24",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PSKH1 was added\ngene: PSKH1 was added to Renal Ciliopathies and Nephronophthisis. Sources: Literature\nMode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSKH1 were set to PMID: 39132680\nPhenotypes for gene: PSKH1 were set to Hepatorenal syndrome, MONDO:0001382\nReview for gene: PSKH1 was set to GREEN\ngene: PSKH1 was marked as current diagnostic\nAdded comment: 4 consanguineous families (out of 279 families) with intrahepatic cholestasis: \r\n-1 patient died at 10mths with cholestasis/liver impairment and kidney impairment\r\n-3 cousins with cholestasis (2 with liver failure needing transplant) and kidney features (2 with kidney failure, 1 with renal echogenicity)\r\n-2 siblings with hepatic fibrosis (1 with unilateral renal agenesis)\r\n-2 siblings with unexplained liver cirrhosis (1 needing transplant) but normal kidney function\r\n\r\nWES identified 3 different homozygous variants in PSKH1 (Arg121Trp, Ile126Val, Arg183Cys). Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. The phenotype could be rationalized by the loss of catalytic activity observed for each recombinant PSKH1 variant using in vitro kinase assays. Human PSKH1 is a poorly understood gene that may play important role in intracellular trafficking, is sensitive to intracellular Ca2+ concentration, and is localized to centrosomes, suggesting a link to cystogenesis. \nSources: Literature",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:22:13.117843+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.57",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PSKH1 was added\ngene: PSKH1 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSKH1 were set to PMID: 39132680\nPhenotypes for gene: PSKH1 were set to Hepatorenal syndrome, MONDO:0001382\nReview for gene: PSKH1 was set to GREEN\ngene: PSKH1 was marked as current diagnostic\nAdded comment: 4 consanguineous families (out of 279 families) with intrahepatic cholestasis: \r\n-1 patient died at 10mths with cholestasis/liver impairment and kidney impairment\r\n-3 cousins with cholestasis (2 with liver failure needing transplant) and kidney features (2 with kidney failure, 1 with renal echogenicity)\r\n-2 siblings with hepatic fibrosis (1 with unilateral renal agenesis)\r\n-2 siblings with unexplained liver cirrhosis (1 needing transplant) but normal kidney function\r\n\r\nWES identified 3 different homozygous variants in PSKH1 (Arg121Trp, Ile126Val, Arg183Cys). Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. The phenotype could be rationalized by the loss of catalytic activity observed for each recombinant PSKH1 variant using in vitro kinase assays. Human PSKH1 is a poorly understood gene that may play important role in intracellular trafficking, is sensitive to intracellular Ca2+ concentration, and is localized to centrosomes, suggesting a link to cystogenesis. \nSources: Literature",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T08:21:29.244301+10:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.241",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "gene: PSKH1 was added\ngene: PSKH1 was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: PSKH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PSKH1 were set to PMID: 39132680\nPhenotypes for gene: PSKH1 were set to Hepatorenal syndrome, MONDO:0001382\nReview for gene: PSKH1 was set to GREEN\ngene: PSKH1 was marked as current diagnostic\nAdded comment: 4 consanguineous families (out of 279 families) with intrahepatic cholestasis: \r\n-1 patient died at 10mths with cholestasis/liver impairment and kidney impairment\r\n-3 cousins with cholestasis (2 with liver failure needing transplant) and kidney features (2 with kidney failure, 1 with renal echogenicity)\r\n-2 siblings with hepatic fibrosis (1 with unilateral renal agenesis)\r\n-2 siblings with unexplained liver cirrhosis (1 needing transplant) but normal kidney function\r\n\r\nWES identified 3 different homozygous variants in PSKH1 (Arg121Trp, Ile126Val, Arg183Cys). Patient fibroblasts displayed abnormal cilia that are long and show abnormal transport. A homozygous Pskh1 mutant mouse faithfully recapitulated the human phenotype and displayed abnormally long cilia. The phenotype could be rationalized by the loss of catalytic activity observed for each recombinant PSKH1 variant using in vitro kinase assays. Human PSKH1 is a poorly understood gene that may play important role in intracellular trafficking, is sensitive to intracellular Ca2+ concentration, and is localized to centrosomes, suggesting a link to cystogenesis. \nSources: Literature",
"entity_name": "PSKH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:16:17.850479+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "1.23",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "reviewed gene: IFT140: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 39136524; Phenotypes: Cystic Kidney Disease, MONDO# 0002473; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:16:15.422245+10:00",
"panel_name": "Renal Macrocystic Disease",
"panel_id": 194,
"panel_version": "0.70",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "edited their review of gene: IFT140: Added comment: 368 patients with IFT140 LoF variants and a spectrum of phenotypic findings that support the association of IFT140 with PKD. A cystic phenotype was reported in 223 of the 368 (60.6%) individuals harboring an IFT140 LoF variant, 98% of which had no other identified cause for their cystic disease. Of 122 unique LoF IFT140 variants identified, 56 (46%) were frameshift, 38 (31%) nonsense, 22 (18%) splice site and 6 (5%) exon-level deletions. Only six IFT140 individuals were reported with end-stage kidney disease, consistent with observed milder clinical presentations in IFT140-related PKD.; Changed publications: PMID: 39136524; Changed phenotypes: Cystic Kidney Disease, MONDO# 0002473; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Set current diagnostic: yes",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:12:23.414089+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIG4 as ready",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:12:23.396430+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Green List (High Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:12:14.533496+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FIG4 as ready",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:12:14.524961+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Moved to Mendeliome. Associations with CMT and Yunis-Varon are well established whereas association with ALS/FTD is not.",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:12:14.461485+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fig4 has been removed from the panel.",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:11:47.231669+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIG4 as No list",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:11:47.218904+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fig4 has been removed from the panel.",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:10:38.474525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FIG4 as Green List (high evidence)",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:10:38.462150+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fig4 has been classified as Green List (High Evidence).",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:10:21.352028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FIG4 was added\ngene: FIG4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: FIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FIG4 were set to 23623387; 17572665; 21705420; 24878229; 18758830; 24598713\nPhenotypes for gene: FIG4 were set to Yunis-Varon syndrome - MIM#216340; Polymicrogyria with epilepsy MIM# 612691; Charcot-Marie-Tooth disease, type 4J 611228; Amyotrophic lateral sclerosis 11, MIM# 612577\nReview for gene: FIG4 was set to GREEN\nAdded comment: Associations between biallelic variants and CMT and Yunis Varon syndrome are well established.\r\n\r\nLimited evidence for association with brain malformations and with ALS/FTD. \nSources: Expert Review",
"entity_name": "FIG4",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:04:33.767553+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DICER1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DICER1",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:03:46.484845+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDH1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDH1",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:02:11.658778+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1S as ready",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:02:11.640150+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Green List (High Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:02:08.440794+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1S were changed from to Malignant hyperthermia susceptibility 5, MIM# 601887",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:01:37.655936+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:00:13.396952+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOE as ready",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:00:13.379050+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoe has been classified as Green List (High Evidence).",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2024-08-16T07:00:08.671287+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOE were set to ",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2024-08-16T06:59:30.197091+10:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.302",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOE was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOE",
"entity_type": "gene"
},
{
"created": "2024-08-15T20:56:01.470559+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WT1 as ready",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-08-15T20:56:01.441302+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wt1 has been classified as Green List (High Evidence).",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-08-15T20:55:31.825073+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WT1 were changed from to Denys-Drash syndrome, MIM# 194080; Frasier syndrome, MIM#136680; Wilms tumor, type 1, MIM#194070; Nephrotic syndrome, type 4, MIM#256370",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-08-15T20:54:29.986491+10:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WT1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2024-08-15T16:57:12.459952+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CHRNA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 18806275, 10195214, 12588888, 18252226, 36092864; Phenotypes: Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930, Myasthenic syndrome, congenital, 1B, fast-channel , MIM#608930; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNA1",
"entity_type": "gene"
},
{
"created": "2024-08-15T16:33:35.671488+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.235",
"user_name": "Shekeeb Mohammad",
"item_type": "entity",
"text": "gene: NACC1 was added\ngene: NACC1 was added to Dystonia - complex. Sources: Literature\nMode of inheritance for gene: NACC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NACC1 were set to 38698576\nPhenotypes for gene: NACC1 were set to chorea; dystonia; epilepsy; microcephaly; cataracts; dysautonomia; iron deficiency anemia; stereotypies\nPenetrance for gene: NACC1 were set to unknown\nReview for gene: NACC1 was set to GREEN\ngene: NACC1 was marked as current diagnostic\nAdded comment: Sources: Literature",
"entity_name": "NACC1",
"entity_type": "gene"
},
{
"created": "2024-08-15T10:24:11.544590+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.114",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-08-15T10:22:37.264415+10:00",
"panel_name": "BabyScreen+ newborn screening",
"panel_id": 3931,
"panel_version": "1.113",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301681; Phenotypes: Dystonia, DOPA-responsive MIM#128230; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:41:25.057971+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: MAN2B1 as ready",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:41:25.045309+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: man2b1 has been classified as Green List (High Evidence).",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:41:19.873208+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.168",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: MAN2B1 were set to ",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:37:35.551262+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.167",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: MEGF8 as ready",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:37:35.539060+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.167",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: megf8 has been classified as Green List (High Evidence).",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:37:31.781869+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.167",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: MEGF8 were set to 23063620",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:36:34.165198+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.166",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: MEGF8 were set to ",
"entity_name": "MEGF8",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:34:50.788711+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.165",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: MMADHC as ready",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:34:50.775583+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.165",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: mmadhc has been classified as Green List (High Evidence).",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:34:45.875495+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.165",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: MMADHC were set to ",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:29:49.563525+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.164",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: MOCS2 as ready",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:29:49.547979+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.164",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: mocs2 has been classified as Green List (High Evidence).",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:29:44.516957+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.164",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: MOCS2 were set to ",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:28:37.929250+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: MOGS as ready",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:28:37.924550+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: To upgrade to green",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:28:37.886113+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: mogs has been classified as Amber List (Moderate Evidence).",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:28:24.397851+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review tag was added to gene: MOGS.",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:28:07.604573+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.163",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: MOGS were set to 30587846; 33058492; 31925597",
"entity_name": "MOGS",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:26:22.540386+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.162",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: NGLY1 as ready",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:26:22.527369+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.162",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ngly1 has been classified as Green List (High Evidence).",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:26:15.762018+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.162",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: NGLY1 were set to ",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:13:06.529200+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.161",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: NKX3-2 as ready",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:13:06.518172+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.161",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: nkx3-2 has been classified as Green List (High Evidence).",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:12:57.146104+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.161",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: NKX3-2 were set to ",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:08:11.669187+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.160",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: NTNG2 as ready",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:08:11.662838+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.160",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: To be upgraded to green",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:08:11.596835+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.160",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: ntng2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:07:55.175165+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.160",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review tag was added to gene: NTNG2.",
"entity_name": "NTNG2",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:05:45.902485+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.160",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: OBSL1 as ready",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:05:45.890685+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.160",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: obsl1 has been classified as Green List (High Evidence).",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2024-08-14T21:05:41.435305+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.160",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: OBSL1 were set to ",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2024-08-14T16:56:25.668129+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: CEP41: Rating: ; Mode of pathogenicity: None; Publications: 22246503, 36580738; Phenotypes: Joubert syndrome 15, 614464 (3); Mode of inheritance: None",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2024-08-14T15:24:42.528702+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: C1QC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21654842, 8630118, 31357913; Phenotypes: C1q deficiency, 613652 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2024-08-14T14:08:18.361249+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: CEP152: Rating: GREEN; Mode of pathogenicity: None; Publications: 20598275, 22775483, 21131973, 23199753, 36685824; Phenotypes: Microcephaly 9, primary, autosomal recessive, MIM# 614852, MONDO:0013923, Seckel syndrome 5, MIM# 613823, MONDO:0013443; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:32:08.481858+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: BTK: Rating: GREEN; Mode of pathogenicity: None; Publications: 8013627, 7849697, 31481959, 15024743, 34182127, 16951917; Phenotypes: Agammaglobulinemia, X-linked 1 MIM#300755, Bruton-type agammaglobulinemia MONDO:0010421, Isolated growth hormone deficiency, type III, with agammaglobulinemia MIM#307200 MONDO:0010615; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:24:21.441273+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345100 12393486 23715323 6725554 6725554 36907606; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:23:38.984304+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:23:07.676426+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "changed review comment from: Well established and strong gene-disease association. Alpha-thalassemia result in anaemias from early childhood when fetal haemoglobin expression is diminished. Haemoglobinopathies of alpha-globin can result from variants at either of the 2 alpha-globin loci, HBA1 or HBA2.\r\n\r\nSubtypes:\r\nHaemoglobin H disease is a subtype of alpha-thalassemia:\r\nDeletional' Hb H disease is caused by the combination of alpha(0)-thalassemia with deletional alpha(+)-thalassemia. \r\nDeletional Haemoglobin H - phenotypic variability ranging from asymptomatic, to needing periodic transfusions, to severe anaemia with haemolysis and hepatosplenomegaly, to fatal hydrops fetalis in utero. Variable age of onset and features - see PMID: 21345100\r\n\r\n'Nondeletional' Hb H disease is caused by an alpha(0)-thalassemia plus an alpha(+)-thalassemia point mutation or small insertion/deletion. Disease phenotype is usually are greater levels of anaemia, more symptomatic, more likely to have significant hepatosplenomegaly, and greater likelihood to require transfusions.\r\n\r\nNote: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent.; to: Well established gene-disease association. The alpha-thalassemia phenotype ranges from asymptomatic to lethal. The severity of the disorder is usually well correlated with the number of non-functional copies of the alpha-globin genes (HBA1/HBA2). Gene function can be lost by deletion, or by SNVs (total loss or partial).The clinically relevant forms of alpha-thalassemia usually involve alpha(0)-thalassemia, either coinherited with alpha(+)-thalassemia and resulting in HbH disease, or inherited from both parents and resulting in haemoglobin Bart hydrops fetalis.\r\n\r\nNote: Deletions are well known and frequent cause of these alpha thalassemia phenotypes and subtypes. Diverse range of non-deletional HBA2 variants also described. Possible technological challenge due to deletions which are prevalent.",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:22:29.046107+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: HBA1: Rating: AMBER; Mode of pathogenicity: None; Publications: 21381239 11722414 36907606; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA1",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:08:24.834880+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960, 33645901, 32896090, 34628026; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202, Cerebellar-facial-dental syndrome MONDO:0014529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:06:49.585581+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2024-08-14T12:06:14.781207+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: BRF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25561519, 25561519, 27748960, 33645901, 32896090, 34628026; Phenotypes: Cerebellofaciodental syndrome, MIM# 616202, Cerebellar-facial-dental syndrome MONDO:0014529; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2024-08-14T11:54:26.568942+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Andrew Coventry",
"item_type": "entity",
"text": "reviewed gene: HBA2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21345100 12393486 23715323 6725554 6725554; Phenotypes: Thalassemias, alpha- MIM#604131, Hemoglobin H disease, deletional and nondeletional MIM#613978; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HBA2",
"entity_type": "gene"
},
{
"created": "2024-08-14T11:52:17.122589+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: B4GALT7: Rating: GREEN; Mode of pathogenicity: None; Publications: 23956117, 24755949, 31614862, 34193099, 26940150; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 1, MIM# 130070, MONDO:0020682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2024-08-14T11:33:27.782065+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I, MIM# 250950, MONDO:0009610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2024-08-14T11:31:50.732307+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2024-08-14T11:31:07.954824+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: AUH: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 12434311, 16354225, 20855850, 21840233; Phenotypes: 3-methylglutaconic aciduria, type I MIM#250950, MONDO:0009610; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2024-08-14T11:03:20.675410+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Marta Cifuentes Ochoa",
"item_type": "entity",
"text": "reviewed gene: ASCC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30327447, 12077347, 26924529, 31880396, 26503956; Phenotypes: Arthrogryposis, congenital bone fractures, spinal muscular atrophy, spinal muscular atrophy with congenital bone fractures 2 MONDO:0014807, SMABF2 MIM#616867; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASCC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:04:25.173700+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PGM1 as ready",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:04:25.156248+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pgm1 has been classified as Green List (High Evidence).",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:04:20.965593+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.159",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PGM1 were set to ",
"entity_name": "PGM1",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:03:18.857972+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.158",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: ORC1 as ready",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:03:18.840797+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.158",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: orc1 has been classified as Green List (High Evidence).",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:03:14.644514+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.158",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: ORC1 were set to ",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:02:27.565886+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.157",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PGM3 as ready",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:02:27.535759+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.157",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pgm3 has been classified as Green List (High Evidence).",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:02:23.980122+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.157",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PGM3 were set to ",
"entity_name": "PGM3",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:01:38.143346+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.156",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PIGA were set to ",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:01:10.830501+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.155",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PIGA as ready",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:01:10.816969+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.155",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: piga has been classified as Green List (High Evidence).",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-08-13T15:00:42.537678+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.155",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2, 300868 (3) to Multiple congenital anomalies-hypotonia-seizures syndrome 2, MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis, MIM#301072",
"entity_name": "PIGA",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:56:39.892893+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PLPBP as ready",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:56:39.881571+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: plpbp has been classified as Green List (High Evidence).",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:56:36.137744+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.154",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PLPBP were set to ",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:55:28.549487+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.153",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: PMM2 as ready",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:55:28.515475+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.153",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: pmm2 has been classified as Green List (High Evidence).",
"entity_name": "PMM2",
"entity_type": "gene"
}
]
}