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{
"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=571",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=569",
"results": [
{
"created": "2023-08-01T18:47:13.616535+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB2 as Green List (high evidence)",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:47:13.606884+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb2 has been classified as Green List (High Evidence).",
"entity_name": "SATB2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:46:27.595962+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SACS as ready",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:46:27.583565+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sacs has been classified as Green List (High Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:46:22.972159+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SACS as Green List (high evidence)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:46:22.956133+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sacs has been classified as Green List (High Evidence).",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:45:56.257411+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: SACS.",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:45:24.291475+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RARS2 as ready",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:45:24.279193+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars2 has been classified as Green List (High Evidence).",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:45:18.104109+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RARS2 as Green List (high evidence)",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:45:18.093410+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rars2 has been classified as Green List (High Evidence).",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:44:36.876665+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB3GAP1 as ready",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:44:36.866105+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:44:30.900660+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB3GAP1 as Green List (high evidence)",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:44:30.887786+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:43:44.194614+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTPN23 as ready",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:43:44.180825+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:43:38.549741+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTPN23 as Amber List (moderate evidence)",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:43:38.536940+10:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.147",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptpn23 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTPN23",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:40:47.357224+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CLPB as ready",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:40:47.346222+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpb has been classified as Green List (High Evidence).",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:40:44.209060+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLPB were changed from congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropaenia, MIM# 616271; 3-methylglutaconic aciduria, type VIIB, autosomal recessive, MIM#\t616271; congenital neutropenia, 3-methylglutaconic aciduria, cataracts, severe psychomotor regression during febrile episodes, epilepsy",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:39:59.025652+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CLPB as Green List (high evidence)",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-08-01T18:39:59.015763+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: clpb has been classified as Green List (High Evidence).",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-08-01T17:30:19.343635+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.4",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "HPO terms changed from Increased susceptibility to fractures, HP:0002659 to \nPanel status changed from internal to public\nPanel types changed to Melbourne Genomics; Royal Melbourne Hospital",
"entity_name": null,
"entity_type": null
},
{
"created": "2023-08-01T16:50:51.189416+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1049",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Zhou et al. (2023) - Two heterozygous nonsense variants identified in two individuals of the same family [p.Arg1126Ter and p.Gln1507Ter] that was shown to segregate in the family with reduced penetrance.\r\n\r\nThe authors hypothesize that function of laminin 𝛼3 is altered as it changes its ability to form heterotrimeric laminins. \r\n\r\nIn vivo functional study using CRISPR/Cas-9 mediated LAMA3 knockout mice. Results of the functional assay showed development of tricuspid valve and right ventricle abnormalities in the presence of a homozygous LoF variant in LAMA3.; to: Novel gene-disease association\r\nZhou et al. (2023) - Two heterozygous nonsense variants identified in two individuals of the same family [p.Arg1126Ter and p.Gln1507Ter] that was shown to segregate in the family with reduced penetrance.\r\n\r\nThe authors hypothesize that function of laminin 𝛼3 is altered as it changes its ability to form heterotrimeric laminins. \r\n\r\nIn vivo functional study using CRISPR/Cas-9 mediated LAMA3 knockout mice. Results of the functional assay showed development of tricuspid valve and right ventricle abnormalities in the presence of a homozygous LoF variant in LAMA3.",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:48:44.140999+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1049",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: LAMA3: Rating: AMBER; Mode of pathogenicity: None; Publications: https://doi.org/10.1016/j.xhgg.2023.100227; Phenotypes: Ebstein’s anomaly (MIM#224700); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:43:53.866691+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SUFU as Green List (high evidence)",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:43:53.856714+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.3",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sufu has been classified as Green List (High Evidence).",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:43:40.438045+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Green List (high evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:43:40.416987+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Green List (High Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:43:19.799828+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FAM46A as Green List (high evidence)",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:43:19.786869+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fam46a has been classified as Green List (High Evidence).",
"entity_name": "FAM46A",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:44.995689+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XYLT2 was added\ngene: XYLT2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: XYLT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XYLT2 were set to 26987875; 26027496\nPhenotypes for gene: XYLT2 were set to Spondyloocular syndrome MIM#605822",
"entity_name": "XYLT2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:44.794113+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WT1 was added\ngene: WT1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: WT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: WT1 were set to 35802134\nPhenotypes for gene: WT1 were set to Wilms' tumor MIM#194070",
"entity_name": "WT1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:44.596638+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WNT1 was added\ngene: WNT1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: WNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT1 were set to 23499310; 23499309; 23656646; 26671912\nPhenotypes for gene: WNT1 were set to Osteogenesis imperfecta, type XV, MIM# 615220",
"entity_name": "WNT1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:44.399440+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WIPF1 was added\ngene: WIPF1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: WIPF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WIPF1 were set to 11869681; 14757742; 9405671; 27742395; 22231303\nPhenotypes for gene: WIPF1 were set to Wiskott-Aldrich syndrome 2, MIM# 614493",
"entity_name": "WIPF1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:44.196674+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WFS1 was added\ngene: WFS1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: WFS1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: WFS1 were set to 27217304; 27185633\nPhenotypes for gene: WFS1 were set to diabetes insipidus or optic atrophy; ?Cataract 41,116400; Wolfram syndrome, 222300; Deafness,autosomal dominant 6/14/38, 600965; {Diabetes mellitus, noninsulin-dependent, association with}, 125853; {Diabetes mellitus, noninsulin-dependent,association with}; Deafness, autosomal dominant 6/14/38, 600965; Wolfram-like syndrome, autosomal dominant, 614296",
"entity_name": "WFS1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:44.021307+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WAS was added\ngene: WAS was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\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, MIM# 301000; Thrombocytopenia, X-linked, MIM# 313900",
"entity_name": "WAS",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:43.790481+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VWF was added\ngene: VWF was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: VWF was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: VWF were set to von Willebrand disease, type 1, MIM#193400; von Willibrand disease, type 3, MIM#277480; von Willebrand disease, types 2A, 2B, 2M, and 2N, MIM#613554",
"entity_name": "VWF",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:43.591887+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33B were set to 26399659; 16896922\nPhenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1, MIM# 208085",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:43.404144+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VKORC1 was added\ngene: VKORC1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VKORC1 were set to 14765194\nPhenotypes for gene: VKORC1 were set to Vitamin K-dependent clotting factors, combined deficiency of, 2, MIM# 607473",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:43.192450+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VIPAS39 was added\ngene: VIPAS39 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM# 613404",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:43.013185+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VHL was added\ngene: VHL was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: VHL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: VHL were set to von Hippel-Lindau syndrome , MIM#193300",
"entity_name": "VHL",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:42.871127+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VCL was added\ngene: VCL was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: VCL was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: VCL were set to 11815424; 26458567; 17785437; 31983221; 32516855; 26406308; 24062880\nPhenotypes for gene: VCL were set to Cardiomyopathy, dilated, 1W, MIM# 611407",
"entity_name": "VCL",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:42.676530+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UQCRFS1 was added\ngene: UQCRFS1 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: UQCRFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UQCRFS1 were set to 31883641\nPhenotypes for gene: UQCRFS1 were set to fetal bradycardia; Mitochondrial Complex III deficiency; hypertrophic cardiomyopathy; lactic acidosis; alopecia totalis",
"entity_name": "UQCRFS1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:42.474607+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TULP3 was added\ngene: TULP3 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TULP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TULP3 were set to PMID: 35397207\nPhenotypes for gene: TULP3 were set to Hepatorenocardiac degenerative fibrosis, MIM# 619902",
"entity_name": "TULP3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:42.290459+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TUBB1 was added\ngene: TUBB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TUBB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TUBB1 were set to 31565851; 29333906; 32757236; 18849486\nPhenotypes for gene: TUBB1 were set to Macrothrombocytopenia, autosomal dominant, TUBB1-related, MIM# 613112",
"entity_name": "TUBB1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:42.076933+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTR was added\ngene: TTR was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTR were set to 28475415; 35802134; 31554435\nPhenotypes for gene: TTR were set to Amyloidosis, hereditary, transthyretin-related MIM#105210",
"entity_name": "TTR",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:41.874971+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTN was added\ngene: TTN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TTN were set to 25589632; 28045975; 22335739; 33947203; 34012068\nPhenotypes for gene: TTN were set to Cardiomyopathy, dilated, 1G, MIM#604145",
"entity_name": "TTN",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:41.675693+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSC2 was added\ngene: TSC2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: TSC2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC2 were set to Tuberous sclerosis-2, MIM# 613254",
"entity_name": "TSC2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:41.489339+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TSC1 was added\ngene: TSC1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: TSC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TSC1 were set to Tuberous sclerosis-1, MIM# 191100",
"entity_name": "TSC1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:41.080692+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRPV6 was added\ngene: TRPV6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TRPV6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPV6 were set to 29861107\nPhenotypes for gene: TRPV6 were set to Hyperparathyroidism, transient neonatal, MIM# 618188",
"entity_name": "TRPV6",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:40.882381+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRIM63 was added\ngene: TRIM63 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TRIM63 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM63 were set to 32451364; 30681346\nPhenotypes for gene: TRIM63 were set to Hypertrophic cardiomyopathy, MONDO:0005045",
"entity_name": "TRIM63",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:40.689869+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRDN was added\ngene: TRDN was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: TRDN was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRDN were set to 22422768; 31983240; 30649896; 25922419\nPhenotypes for gene: TRDN were set to Long QT syndrome; Ventricular tachycardia, catecholaminergic polymorphic, 5, with or without muscle weakness, MIM# 615441",
"entity_name": "TRDN",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:40.500190+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPM4 was added\ngene: TPM4 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TPM4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TPM4 were set to 28134622; 21153663; 31249973\nPhenotypes for gene: TPM4 were set to Macrothrombocytopenia",
"entity_name": "TPM4",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:40.301189+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPM1 was added\ngene: TPM1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TPM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TPM1 were set to 11273725; 30681346; 15249230; 31270709; 21483645; 31983221; 23147248; 20117437; 28600229; 20215591\nPhenotypes for gene: TPM1 were set to Left ventricular noncompaction 9, MIM# 611878; Cardiomyopathy, hypertrophic, 3, MIM# 115196; Cardiomyopathy, dilated, 1Y, MIM# 611878",
"entity_name": "TPM1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:40.089643+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TP53 was added\ngene: TP53 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: TP53 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP53 were set to Li-Fraumeni syndrome, MIM# 151623",
"entity_name": "TP53",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:39.889549+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TNXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNXB were set to Ehlers-Danlos syndrome, classic-like, 1, MIM# 606408",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:39.702433+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNT2 was added\ngene: TNNT2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TNNT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNT2 were set to 20031601; 33947203; 17556660, 30681346; 20978592; 15542288; 11106718\nPhenotypes for gene: TNNT2 were set to Cardiomyopathy, familial restrictive, 3, MIM# 612422; Cardiomyopathy, dilated, 1D, MIM# 601494; Left ventricular noncompaction 6, MIM# 601494; Cardiomyopathy, hypertrophic, 2, MIM# 115195",
"entity_name": "TNNT2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:39.507356+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNI3K was added\ngene: TNNI3K was added to Transplant Co-Morbidity Superpanel. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: TNNI3K was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNI3K were set to 29355681; 30010057\nPhenotypes for gene: TNNI3K were set to Cardiac conduction disease with or without dilated cardiomyopathy, MIM# 616117",
"entity_name": "TNNI3K",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:39.378443+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNI3 was added\ngene: TNNI3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TNNI3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TNNI3 were set to 2226790; 19590045; 30681346; 31568572; 22464770; 21846512; 15607392; 20215591\nPhenotypes for gene: TNNI3 were set to Cardiomyopathy, dilated, 1FF, MIM# 613286; Cardiomyopathy, hypertrophic, 7 , MIM#613690; Cardiomyopathy, familial restrictive, MIM#1 115210\nMode of pathogenicity for gene: TNNI3 was set to Other",
"entity_name": "TNNI3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:39.188294+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNNC1 was added\ngene: TNNC1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TNNC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNNC1 were set to 17977476; 33947203; 31983221; 19808376\nPhenotypes for gene: TNNC1 were set to MONDO:0012745; Cardiomyopathy, dilated, 1Z, MIM# 611879",
"entity_name": "TNNC1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:38.993937+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM43 was added\ngene: TMEM43 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TMEM43 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM43 were set to 22725725; 21214875; 29980933; 24598986; 18313022; 23812740; 33831308\nPhenotypes for gene: TMEM43 were set to Arrhythmogenic right ventricular dysplasia 5, MIM# 604400",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:38.805367+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM38B was added\ngene: TMEM38B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM38B were set to 23054245; 28323974\nPhenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV , MIM#615066",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:38.611734+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM127 was added\ngene: TMEM127 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TMEM127 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM127 were set to 34012068\nPhenotypes for gene: TMEM127 were set to {Pheochromocytoma, susceptibility to} 171300",
"entity_name": "TMEM127",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:38.475321+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: THPO was added\ngene: THPO was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: THPO was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THPO were set to 10583217; 9425899\nPhenotypes for gene: THPO were set to Thrombocythemia 1, MIM# 187950",
"entity_name": "THPO",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:38.288900+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: THBD was added\ngene: THBD was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: THBD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: THBD were set to 28267383; 25564403; 10627464; 32935436; 25049278; 32634856; 27436851\nPhenotypes for gene: THBD were set to Bleeding disorder",
"entity_name": "THBD",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:38.081405+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFBR2 was added\ngene: TGFBR2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TGFBR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR2 were set to Loeys-Dietz syndrome 2, MIM# 610168",
"entity_name": "TGFBR2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:37.888640+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFBR1 was added\ngene: TGFBR1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TGFBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFBR1 were set to Loeys-Dietz syndrome 1, MIM# 609192",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:37.696820+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFB3 was added\ngene: TGFB3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TGFB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB3 were set to Loeys-Dietz syndrome 5, MIM# 615582",
"entity_name": "TGFB3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:37.497232+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TGFB2 was added\ngene: TGFB2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: TGFB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TGFB2 were set to Loeys-Dietz syndrome 4, MIM# 614816",
"entity_name": "TGFB2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:37.308518+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TECRL was added\ngene: TECRL was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TECRL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TECRL were set to 33367594; 17666061; 30790670; 27861123\nPhenotypes for gene: TECRL were set to Ventricular tachycardia, catecholaminergic polymorphic, 3, MIM# 614021",
"entity_name": "TECRL",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:37.171237+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBXAS1 was added\ngene: TBXAS1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: TBXAS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBXAS1 were set to 18264100\nPhenotypes for gene: TBXAS1 were set to Ghosal hematodiaphyseal syndrome, MIM# 231095",
"entity_name": "TBXAS1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:36.983236+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBX5 was added\ngene: TBX5 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TBX5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX5 were set to 25725155; 32236096; 32449309; 25963046\nPhenotypes for gene: TBX5 were set to Holt-Oram syndrome, MIM# 142900; Dilated cardiomyopathy",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:36.791154+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Transplant Co-Morbidity Superpanel. Sources: Expert List\nMode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SUFU were set to SUFU-related neurodevelopmental disorder",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:36.612522+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STIM1 was added\ngene: STIM1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STIM1 were set to Stormorken syndrome, MIM# 185070",
"entity_name": "STIM1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:36.479287+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SRC was added\ngene: SRC was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SRC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRC were set to 31204551; 26936507\nPhenotypes for gene: SRC were set to Thrombocytopaenia 6, MIM# 616937",
"entity_name": "SRC",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:36.288778+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SPARC was added\ngene: SPARC was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPARC were set to 34462290; 26027498\nPhenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, MIM# 616507",
"entity_name": "SPARC",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:36.096725+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SP7 was added\ngene: SP7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SP7 were set to 32413570; 29382611; 34091789; 20579626; 35367406\nPhenotypes for gene: SP7 were set to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:35.920675+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD4 was added\ngene: SMAD4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMAD4 were set to 30809044\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome, MIM# 175050; Thoracic aortic aneurysm",
"entity_name": "SMAD4",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:35.774875+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SMAD3 was added\ngene: SMAD3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SMAD3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD3 were set to Loeys-Dietz syndrome 3, MIM# 613795",
"entity_name": "SMAD3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:35.581546+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLFN14 was added\ngene: SLFN14 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SLFN14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLFN14 were set to 26280575; 26769223\nPhenotypes for gene: SLFN14 were set to Bleeding disorder, platelet-type, 20, MIM# 616913",
"entity_name": "SLFN14",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:35.384899+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC40A1 was added\ngene: SLC40A1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: SLC40A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SLC40A1 were set to Hemochromatosis, type 4 606069",
"entity_name": "SLC40A1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:35.185376+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC37A4 were set to 33964207\nPhenotypes for gene: SLC37A4 were set to liver dysfunction; Congenital disorder of glycosylation; coagulation deficiency",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:34.774444+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC2A10 was added\ngene: SLC2A10 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome, MIM# 208050",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:34.584538+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SKI was added\ngene: SKI was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SKI was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SKI were set to Shprintzen-Goldberg syndrome, MIM# 182212",
"entity_name": "SKI",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:34.391855+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGMS2 was added\ngene: SGMS2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SGMS2 were set to 32028018; 30779713\nPhenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:34.200274+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERPINH1 was added\ngene: SERPINH1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:34.011983+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERPINF2 was added\ngene: SERPINF2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SERPINF2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SERPINF2 were set to 10583218; 31441040; 29656168; 31282989; 2572590\nPhenotypes for gene: SERPINF2 were set to Alpha-2-plasmin inhibitor deficiency, MIM# 262850",
"entity_name": "SERPINF2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:33.820004+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERPINF1 was added\ngene: SERPINF1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SERPINF1 were set to 28689307\nPhenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, MIM# 613982",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:33.617179+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SERPINE1 was added\ngene: SERPINE1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SERPINE1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SERPINE1 were set to 15650551; 9207454\nPhenotypes for gene: SERPINE1 were set to Plasminogen activator inhibitor-1 deficiency, MIM# 613329",
"entity_name": "SERPINE1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:33.475965+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SEC24D was added\ngene: SEC24D was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SEC24D were set to 26467156; 27942778; 30462379; 25683121\nPhenotypes for gene: SEC24D were set to Cole-Carpenter syndrome 2, MIM# 616294",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:33.289064+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHD was added\ngene: SDHD was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: SDHD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHD were set to Pheochromocytoma, MIM# 171300; Paragangliomas 1, with or without deafness, MIM# 168000",
"entity_name": "SDHD",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:33.105997+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHC was added\ngene: SDHC was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: SDHC was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHC were set to Paragangliomas 3, MIM# 605373",
"entity_name": "SDHC",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:32.912275+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHB was added\ngene: SDHB was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: SDHB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHB were set to Paragangliomas 4, MIM# 115310",
"entity_name": "SDHB",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:32.779009+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SDHAF2 was added\ngene: SDHAF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: SDHAF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SDHAF2 were set to Paragangliomas 2, MIM# 601650",
"entity_name": "SDHAF2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:32.600877+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SCN5A was added\ngene: SCN5A was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SCN5A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SCN5A were set to 21824921; 22766342; 22675453; 31520233; 29506689; 19808398; 15671429; 21596231; 29871609; 17512504; 31514951; 22999724; 31930659; 20458009; 30218094\nPhenotypes for gene: SCN5A were set to Heart block, nonprogressive; Atrial fibrillation, familial, 10; Long QT syndrome 3; Ventricular fibrillation, familial, 1; Cardiomyopathy, dilated, 1E, MIM# 601154; Sick sinus syndrome 1; Heart block, progressive, type IA; Brugada syndrome 1; {Sudden infant death syndrome, susceptibility to}",
"entity_name": "SCN5A",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:32.399385+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR2 was added\ngene: RYR2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: RYR2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 1, MIM# 604772; Arrhythmogenic right ventricular dysplasia 2 , MIM#600996",
"entity_name": "RYR2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:32.210403+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: RYR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RYR1 were set to {Malignant hyperthermia susceptibility 1}, MIM#145600",
"entity_name": "RYR1",
"entity_type": "gene"
}
]
}