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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=519",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=517",
"results": [
{
"created": "2023-11-03T17:34:30.881120+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ABCC9 were set to 15034580",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:33:48.819191+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABCC9: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypertrichotic osteochondrodysplasia (Cantu syndrome), MIM# 239850; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABCC9",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:32:08.466387+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EFTUD2 as ready",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:32:08.450046+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: eftud2 has been classified as Green List (High Evidence).",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:32:05.138042+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.308",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EFTUD2 were changed from to Mandibulofacial dysostosis, Guion-Almeida type (MIM#610536; MONDO:0012516)",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:31:29.561224+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EFTUD2 were set to ",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:30:59.136674+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EFTUD2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:26:40.765393+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DLG2.",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:26:22.327512+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: DLG2.",
"entity_name": "DLG2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:25:41.234028+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP2 as ready",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:25:41.225646+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:25:28.660121+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP2 as Green List (high evidence)",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:25:28.649675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp2 has been classified as Green List (High Evidence).",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:25:09.823879+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASP2 was added\ngene: CASP2 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: CASP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP2 were set to 37880421\nPhenotypes for gene: CASP2 were set to neurodevelopmental disorder MONDO:0700092, CASP2-related\nReview for gene: CASP2 was set to GREEN\nAdded comment: 7 individuals from 5 families:\r\n- 4 families homozygous for PTC.\r\n- 1 family compound heterozygote for splice site + PTC. RNA studies indicate usage of 2 cryptic splice donor sites.\r\n\r\n5/5 have ID/dev delay\r\n1/5 seizures\r\n2/5 hypotonia\r\n3/5 Lissencephaly (pachygyria + cortical thickening) \nSources: Literature",
"entity_name": "CASP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:21:04.057919+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: SGSM3.",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:20:53.597987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SGSM3 as ready",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:20:53.585521+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:20:43.358024+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SGSM3 as Amber List (moderate evidence)",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:20:43.348413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1354",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sgsm3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SGSM3",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:11:43.909020+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:11:43.897027+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:11:39.236584+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VCP as Green List (high evidence)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:11:39.224838+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:10:38.146816+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VCP as ready",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:10:38.133747+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:09:10.829583+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: VCP as Green List (high evidence)",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:09:10.821843+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5608",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vcp has been classified as Green List (High Evidence).",
"entity_name": "VCP",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:08:24.542963+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RERE as ready",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:08:24.530563+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:08:14.353389+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RERE were set to 29330883, 27087320, 33772547, 36053530",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:07:36.908148+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RERE as Green List (high evidence)",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2023-11-03T17:07:36.899863+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rere has been classified as Green List (High Evidence).",
"entity_name": "RERE",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:36.281183+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ZNF711 was added\ngene: ZNF711 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZNF711 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZNF711 were set to Mental retardation, X-linked 97, 300803 (3)",
"entity_name": "ZNF711",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:35.768740+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ZFYVE26 was added\ngene: ZFYVE26 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZFYVE26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZFYVE26 were set to Spastic paraplegia 15, autosomal recessive, 270700 (3)",
"entity_name": "ZFYVE26",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:35.416869+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ZDHHC9 was added\ngene: ZDHHC9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZDHHC9 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ZDHHC9 were set to Mental retardation, X-linked syndromic, Raymond type, 300799 (3)",
"entity_name": "ZDHHC9",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:35.091896+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ZBTB24 was added\ngene: ZBTB24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome-2, 614069 (3)",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:34.800181+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: YARS2 was added\ngene: YARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: YARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: YARS2 were set to Myopathy, lactic acidosis, and sideroblastic anemia 2, 613561 (3)",
"entity_name": "YARS2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:34.512874+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: XPC was added\ngene: XPC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XPC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPC were set to Xeroderma pigmentosum, group C, 278720 (3)",
"entity_name": "XPC",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:33.895978+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: XPA was added\ngene: XPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: XPA were set to Xeroderma pigmentosum, group A, 278700 (3)",
"entity_name": "XPA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:33.591559+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: XIAP was added\ngene: XIAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: XIAP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: XIAP were set to Lymphoproliferative syndrome, X-linked, 2, 300635 (3)",
"entity_name": "XIAP",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:33.263876+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WWOX was added\ngene: WWOX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WWOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WWOX were set to Epileptic encephalopathy, early infantile, 28, 616211 (3)",
"entity_name": "WWOX",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:32.903698+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WRN was added\ngene: WRN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WRN were set to Werner syndrome, 277700 (3)",
"entity_name": "WRN",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:32.587109+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WISP3 was added\ngene: WISP3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WISP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WISP3 were set to Arthropathy, progressive pseudorheumatoid, of childhood, 208230 (3)",
"entity_name": "WISP3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:32.004743+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WHRN was added\ngene: WHRN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WHRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WHRN were set to Usher syndrome, type 2D, 611383 (3)",
"entity_name": "WHRN",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:31.604584+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WDR81 was added\ngene: WDR81 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR81 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR81 were set to Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 2, 610185 (3)",
"entity_name": "WDR81",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:31.289816+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WDR62 was added\ngene: WDR62 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR62 were set to Microcephaly 2, primary, autosomal recessive, with or without cortical malformations, 604317 (3)",
"entity_name": "WDR62",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:30.987671+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WDR34 was added\ngene: WDR34 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WDR34 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WDR34 were set to Short-rib thoracic dysplasia 11 with or without polydactyly, 615633 (3)",
"entity_name": "WDR34",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:30.684056+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: WAS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: WAS were set to Wiskott-Aldrich syndrome, 301000 (3)",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:30.172892+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: VSX2 was added\ngene: VSX2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VSX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VSX2 were set to Microphthalmia with coloboma 3, 610092 (3)",
"entity_name": "VSX2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:29.787975+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: VRK1 was added\ngene: VRK1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VRK1 were set to Pontocerebellar hypoplasia type 1A, 607596 (3)",
"entity_name": "VRK1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:29.500584+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: VPS53 was added\ngene: VPS53 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS53 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS53 were set to Pontocerebellar hypoplasia, type 2E, 615851 (3)",
"entity_name": "VPS53",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:29.260183+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: VPS45 was added\ngene: VPS45 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS45 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS45 were set to Neutropenia, severe congenital, 5, autosomal recessive, 615285 (3)",
"entity_name": "VPS45",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:28.916360+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: VPS13B was added\ngene: VPS13B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VPS13B were set to Cohen syndrome, 216550 (3)",
"entity_name": "VPS13B",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:28.376283+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: VPS11 was added\ngene: VPS11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VPS11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS11 were set to 27473128; 26307567; 27120463\nPhenotypes for gene: VPS11 were set to Leukodystrophy, hypomyelinating, 12, 616683 (3), Autosomal recessive",
"entity_name": "VPS11",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:28.064229+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: VLDLR was added\ngene: VLDLR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: VLDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VLDLR were set to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1, 224050 (3)",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:27.698635+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: USP9X was added\ngene: USP9X was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USP9X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: USP9X were set to Mental retardation, X-linked 99, 300919 (3)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:27.390291+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: USH2A was added\ngene: USH2A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH2A were set to Usher syndrome, type 2A, 276901 (3)",
"entity_name": "USH2A",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:27.112016+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: USH1G was added\ngene: USH1G was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH1G was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1G were set to Usher syndrome, type 1G, 606943 (3)",
"entity_name": "USH1G",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:26.573408+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: USH1C was added\ngene: USH1C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: USH1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: USH1C were set to Usher syndrome, type 1C, 276904 (3)",
"entity_name": "USH1C",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:26.274517+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: UPF3B was added\ngene: UPF3B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UPF3B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: UPF3B were set to Mental retardation, X-linked, syndromic 14, 300676 (3)",
"entity_name": "UPF3B",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:25.972700+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: UNC13D was added\ngene: UNC13D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UNC13D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UNC13D were set to Hemophagocytic lymphohistiocytosis, familial, 3, 608898 (3)",
"entity_name": "UNC13D",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:25.611264+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: UGT1A1 was added\ngene: UGT1A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UGT1A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UGT1A1 were set to Crigler-Najjar syndrome, type I, 218800 (3)",
"entity_name": "UGT1A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:25.076969+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: UBR1 was added\ngene: UBR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBR1 were set to Johanson-Blizzard syndrome, 243800 (3)",
"entity_name": "UBR1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:24.762278+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: UBE2T was added\ngene: UBE2T was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBE2T was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBE2T were set to Fanconi anemia, complementation group T, 616435 (3)",
"entity_name": "UBE2T",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:24.393128+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: UBA5 was added\ngene: UBA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: UBA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: UBA5 were set to Epileptic encephalopathy, early infantile, 44, 617132 (3), Autosomal recessive",
"entity_name": "UBA5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:24.082276+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TYRP1 was added\ngene: TYRP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYRP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYRP1 were set to Albinism, oculocutaneous, type III, 203290 (3)",
"entity_name": "TYRP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:23.783796+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TYR was added\ngene: TYR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYR were set to Albinism, oculocutaneous, type IA, 203100 (3)",
"entity_name": "TYR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:23.266200+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TYMP was added\ngene: TYMP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TYMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TYMP were set to Mitochondrial DNA depletion syndrome 1 (MNGIE type), 603041 (3)",
"entity_name": "TYMP",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:22.962093+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TWNK was added\ngene: TWNK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TWNK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), 271245 (3)",
"entity_name": "TWNK",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:22.596435+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TULP1 was added\ngene: TULP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TULP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TULP1 were set to Retinitis pigmentosa 14, 600132 (3)",
"entity_name": "TULP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:22.326591+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TTPA was added\ngene: TTPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTPA were set to Ataxia with isolated vitamin E deficiency, 277460 (3)",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:22.001319+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TTC8 was added\ngene: TTC8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC8 were set to Bardet-Biedl syndrome 8, 615985 (3)",
"entity_name": "TTC8",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:21.502365+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TTC7A was added\ngene: TTC7A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC7A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC7A were set to Gastrointestinal defects and immunodeficiency syndrome, 243150 (3)",
"entity_name": "TTC7A",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:21.258139+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TTC37 was added\ngene: TTC37 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TTC37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TTC37 were set to Trichohepatoenteric syndrome 1, 222470 (3)",
"entity_name": "TTC37",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:20.897784+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TSHB was added\ngene: TSHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSHB were set to Hypothryoidism, congenital, nongoitrous 4, 275100 (3)",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:20.567529+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TSFM was added\ngene: TSFM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSFM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSFM were set to Combined oxidative phosphorylation deficiency 3, 610505 (3)",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:20.214208+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TSEN54 was added\ngene: TSEN54 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSEN54 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN54 were set to Pontocerebellar hypoplasia type 2A, 277470 (3)",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:19.882634+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TSEN2 was added\ngene: TSEN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TSEN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TSEN2 were set to Pontocerebellar hypoplasia type 2B, 612389 (3)",
"entity_name": "TSEN2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:19.383263+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TRPM6 was added\ngene: TRPM6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRPM6 were set to Hypomagnesemia 1, intestinal, 602014 (3)",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:19.077461+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TRMU was added\ngene: TRMU was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRMU was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMU were set to Liver failure, transient infantile, 613070 (3)",
"entity_name": "TRMU",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:18.780666+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TRIM37 was added\ngene: TRIM37 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIM37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM37 were set to Mulibrey nanism, 253250 (3)",
"entity_name": "TRIM37",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:18.481275+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIM32 were set to Muscular dystrophy, limb-girdle, type 2H, 254110 (3)",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:18.183960+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TREX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TREX1 were set to Aicardi-Goutieres syndrome 1, dominant and recessive, 225750 (3)",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:17.884000+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRDN were set to Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, 615441 (3)",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:17.393470+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TPP1 was added\ngene: TPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were set to Ceroid lipofuscinosis, neuronal, 2, 204500 (3)",
"entity_name": "TPP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:17.086177+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TOE1 was added\ngene: TOE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, 614969 (3), Autosomal recessive",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:16.793902+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TMTC3 was added\ngene: TMTC3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMTC3 were set to Lissencephaly 8, 617255 (3), Autosomal recessive",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:16.486320+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TMEM67 was added\ngene: TMEM67 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM67 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM67 were set to Joubert syndrome 6, 610688 (3)",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:16.185598+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TMEM237 was added\ngene: TMEM237 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM237 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM237 were set to Joubert syndrome 14, 614424 (3)",
"entity_name": "TMEM237",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:15.871396+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TMEM231 was added\ngene: TMEM231 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM231 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM231 were set to Joubert syndrome 20, 614970 (3)",
"entity_name": "TMEM231",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:15.361517+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM216 were set to Joubert syndrome 2, 608091 (3)",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:15.013815+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TMEM138 was added\ngene: TMEM138 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TMEM138 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM138 were set to Joubert syndrome 16, 614465 (3)",
"entity_name": "TMEM138",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:14.692773+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TK2 was added\ngene: TK2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TK2 were set to Mitochondrial DNA depletion syndrome 2 (myopathic type), 609560 (3)",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:14.415643+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: THOC2 was added\ngene: THOC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: THOC2 were set to Mental retardation, X-linked 12/35, 300957 (3), X-linked recessive",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:14.160031+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TH was added\ngene: TH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TH were set to Segawa syndrome, recessive, MIM# 605407",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:13.663273+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TGM1 was added\ngene: TGM1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TGM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TGM1 were set to Ichthyosis, congenital, autosomal recessive 1, 242300 (3)",
"entity_name": "TGM1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:13.368656+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TF was added\ngene: TF was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TF were set to Atransferrinemia, 209300 (3)",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:13.073353+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TELO2 was added\ngene: TELO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TELO2 were set to You-Hoover-Fong syndrome, 616954 (3), Autosomal recessive",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:12.779841+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to Prepair 500+. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECPR2 were set to 23176824; 35130874; 26542466\nPhenotypes for gene: TECPR2 were set to Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:12.478303+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TCTN3 was added\ngene: TCTN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCTN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN3 were set to Joubert syndrome 18, 614815 (3)",
"entity_name": "TCTN3",
"entity_type": "gene"
}
]
}