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"count": 221413,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=572",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=570",
"results": [
{
"created": "2023-08-01T16:33:32.071192+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RUNX1 was added\ngene: RUNX1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RUNX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RUNX1 were set to 10508512\nPhenotypes for gene: RUNX1 were set to Platelet disorder, familial, with associated myeloid malignancy, MIM# 601399",
"entity_name": "RUNX1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:31.881135+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:31.689505+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBM8A was added\ngene: RBM8A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RBM8A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBM8A were set to Thrombocytopenia-absent radius syndrome, MIM# 274000",
"entity_name": "RBM8A",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:31.495829+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBM20 was added\ngene: RBM20 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: RBM20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RBM20 were set to 33947203; 30871351; 35802134\nPhenotypes for gene: RBM20 were set to Cardiomyopathy, dilated, 1DD MIM#613172 AD",
"entity_name": "RBM20",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:31.318817+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RB1 was added\ngene: RB1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: RB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: RB1 were set to Retinoblastoma MONDO:0008380",
"entity_name": "RB1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:31.178054+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RASGRP2 was added\ngene: RASGRP2 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: RASGRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RASGRP2 were set to 32041177; 24958846; 30849270; 32609603; 31724816\nPhenotypes for gene: RASGRP2 were set to Bleeding disorder, platelet-type, 18, MIM# 615888",
"entity_name": "RASGRP2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:30.976458+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTPN11 was added\ngene: PTPN11 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PTPN11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTPN11 were set to Noonan syndrome 1, MIM# 163950\nMode of pathogenicity for gene: PTPN11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:30.787991+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTEN was added\ngene: PTEN was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: PTEN was set to MONOALLELIC, autosomal or pseudoautosomal, maternally imprinted (paternal allele expressed)\nPhenotypes for gene: PTEN were set to Cowden syndrome 1, MIM# 158350",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:30.607080+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert List\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Holoprosencephaly 7, MIM# 610828",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:30.408445+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKG1 was added\ngene: PRKG1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: PRKG1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PRKG1 were set to Aortic aneurysm, familial thoracic 8, MIM# 615436",
"entity_name": "PRKG1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:30.271400+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRKAG2 was added\ngene: PRKAG2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: PRKAG2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRKAG2 were set to 30681346\nPhenotypes for gene: PRKAG2 were set to Cardiomyopathy, hypertrophic 6, MIM# 600858",
"entity_name": "PRKAG2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:30.083556+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRDM16 was added\ngene: PRDM16 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: PRDM16 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PRDM16 were set to 34540771; 34935411; 29367541; 24387995; 32183154; 33500567; 33082984; 34350506; 31965688; 29447731; PMID: 23768516; 30847666\nPhenotypes for gene: PRDM16 were set to Left ventricular noncompaction 8 MIM#615373; Cardiomyopathy, dilated, 1LL MIM#615373",
"entity_name": "PRDM16",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:29.884459+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PPIB was added\ngene: PPIB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: PPIB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPIB were set to 32392875; 19781681\nPhenotypes for gene: PPIB were set to Osteogenesis imperfecta, type IX, MIM# 259440",
"entity_name": "PPIB",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:29.717543+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PPARG was added\ngene: PPARG was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PPARG was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PPARG were set to FPLD3; Lipodystrophy, familial partial, type 3; LIPODYSTROPHY, FAMILIAL PARTIAL, TYPE 3; Insulin resistance, severe, digenic; Obesity, severe, 601665; Carotid intimal medial thickness 1, 609338; Lipodystrophy, familial partial, type 3, 604367; {Diabetes, type 2}, 125853; Lipodystrophy, familial partial, type 3 604367; [Obesity, resistance to]; Insulin resistance, severe, digenic 604367; Diabetes Mellitus, Noninsulin-Dependent, with Acanthosis Nigricans and Hypertension; Insulin resistance, severe, digenic, 604367",
"entity_name": "PPARG",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:29.514979+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PMS2 was added\ngene: PMS2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: PMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PMS2 were set to Colorectal cancer, hereditary nonpolyposis, type 4, MIM# 614337",
"entity_name": "PMS2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:29.374701+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLS3 was added\ngene: PLS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: PLS3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: PLS3 were set to Bone mineral density QTL18, osteoporosis",
"entity_name": "PLS3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:29.187428+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLOD2 was added\ngene: PLOD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: PLOD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLOD2 were set to 12881513; 22689593; 15523624\nPhenotypes for gene: PLOD2 were set to Bruck syndrome 2, MIM# 609220",
"entity_name": "PLOD2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:29.001603+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLN was added\ngene: PLN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: PLN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLN were set to 33947203; 30681346\nPhenotypes for gene: PLN were set to Cardiomyopathy, hypertrophic, 18 (MIM #613874); Cardiomyopathy, dilated, 1P, MIM# 609909",
"entity_name": "PLN",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:28.879348+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLAU was added\ngene: PLAU was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PLAU was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLAU were set to 20007542\nPhenotypes for gene: PLAU were set to Quebec platelet disorder, MIM# 601709",
"entity_name": "PLAU",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:28.695442+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLA2G4A was added\ngene: PLA2G4A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PLA2G4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PLA2G4A were set to 23268370; 25102815; 18451993\nPhenotypes for gene: PLA2G4A were set to Gastrointestinal ulceration, recurrent, with dysfunctional platelets, MIM# 618372",
"entity_name": "PLA2G4A",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:28.517402+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PKP2 was added\ngene: PKP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: PKP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PKP2 were set to 33831308\nPhenotypes for gene: PKP2 were set to Arrhythmogenic right ventricular dysplasia 9, MIM# 609040",
"entity_name": "PKP2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:28.383111+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PCSK9 was added\ngene: PCSK9 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: PCSK9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PCSK9 were set to Hypercholesterolemia, familial, 3, MIM# 603776",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:28.201118+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PAX6 were set to diabetes; Aniridia 106210",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:28.075239+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PALB2 was added\ngene: PALB2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: PALB2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PALB2 were set to 34012068\nPhenotypes for gene: PALB2 were set to {Breast cancer, susceptibility to} 114480",
"entity_name": "PALB2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:27.889718+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: P4HB was added\ngene: P4HB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: P4HB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: P4HB were set to 25683117; 30063094; 29384951; 29263160\nPhenotypes for gene: P4HB were set to Cole-Carpenter syndrome 1, MIM#112240",
"entity_name": "P4HB",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:27.722457+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: P3H1 was added\ngene: P3H1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: P3H1 were set to 18566967; 17277775\nPhenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, (MIM# 610915)",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:27.574001+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: P2RY12 was added\ngene: P2RY12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: P2RY12 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: P2RY12 were set to 29117459; 11196645; 12578987; 19237732\nPhenotypes for gene: P2RY12 were set to MONDO:0012354; Bleeding disorder, platelet-type, 8, MIM# 609821",
"entity_name": "P2RY12",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:27.397853+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOTCH2 was added\ngene: NOTCH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: NOTCH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH2 were set to 21378989; 21378985; 16773578\nPhenotypes for gene: NOTCH2 were set to Hajdu-Cheney syndrome (MIM#102500)",
"entity_name": "NOTCH2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:27.217741+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NOTCH1 was added\ngene: NOTCH1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: NOTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NOTCH1 were set to 26820064; 25963545; 16729972; 16025100\nPhenotypes for gene: NOTCH1 were set to Aortic aneurysm",
"entity_name": "NOTCH1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:27.073384+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NF2 was added\ngene: NF2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: NF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: NF2 were set to Neurofibromatosis, type 2, MIM# 101000",
"entity_name": "NF2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:26.890265+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEXN was added\ngene: NEXN was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: NEXN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NEXN were set to 28416588; 27532257; 19881492; 24503780; 29540472; 25163546; 26659360\nPhenotypes for gene: NEXN were set to Cardiomyopathy, dilated, 1CC, MIM# 613122",
"entity_name": "NEXN",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:26.700589+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NEUROD1 was added\ngene: NEUROD1 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: NEUROD1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: NEUROD1 were set to 10545951; 26773576; 26669242; 20573748\nPhenotypes for gene: NEUROD1 were set to MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 6; Maturity-Onset Diabetes Of The Young; Permanent neonatal diabetes and cerebellar agenesis; MODY6; Maturity Onset Diabetes of the Young; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-onset diabetes of the young 6, 606394",
"entity_name": "NEUROD1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:26.573652+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NBEAL2 was added\ngene: NBEAL2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: NBEAL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBEAL2 were set to 21765412; 21765411; 21765413\nPhenotypes for gene: NBEAL2 were set to Gray platelet syndrome, MIM# 139090",
"entity_name": "NBEAL2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:26.387912+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NBAS was added\ngene: NBAS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 29955634; 27789416\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM# 614800; immunodeficiency; short stature; bone fragility; developmental delay; autism",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:26.214163+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYLK was added\ngene: MYLK was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MYLK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYLK were set to Aortic aneurysm, familial thoracic 7, MIM# 613780",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:26.082600+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYL3 was added\ngene: MYL3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MYL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: MYL3 were set to 30681346\nPhenotypes for gene: MYL3 were set to Cardiomyopathy, hypertrophic, 8, MIM# 608751",
"entity_name": "MYL3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:25.907399+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYL2 was added\ngene: MYL2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MYL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYL2 were set to 30681346\nPhenotypes for gene: MYL2 were set to Cardiomyopathy, hypertrophic, 10, MIM# 608758",
"entity_name": "MYL2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:25.729122+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH9 was added\ngene: MYH9 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MYH9 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH9 were set to Macrothrombocytopenia and granulocyte inclusions with or without nephritis or sensorineural hearing loss, MIM# 155100",
"entity_name": "MYH9",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:25.589494+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH7 was added\ngene: MYH7 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MYH7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MYH7 were set to 30874888; 25935763; 30384889; 30681346; 24119082; 21483645; 27000522; 24558114; 21846512; 33947203; 31179125; 27965028\nPhenotypes for gene: MYH7 were set to MONDO:0013262; Cardiomyopathy, dilated, 1S, MIM# 613426; Cardiomyopathy, hypertrophic, 1, MIM# 192600",
"entity_name": "MYH7",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:25.205867+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYH11 was added\ngene: MYH11 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4, MIM# 132900",
"entity_name": "MYH11",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:25.078855+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MYBPC3 was added\ngene: MYBPC3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MYBPC3 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: MYBPC3 were set to 30681346; 20378854\nPhenotypes for gene: MYBPC3 were set to Cardiomyopathy, dilated, 1MM, MIM# 615396; Left ventricular noncompaction 10, MIM# 615396; Cardiomyopathy, hypertrophic, 4, MIM# 115197",
"entity_name": "MYBPC3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:24.897476+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTTP was added\ngene: MTTP was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: MTTP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTTP were set to 30720493; 27604308; 8533758\nPhenotypes for gene: MTTP were set to Inherited hypolipidaemias; Abetalipoproteinemia MIM#200100",
"entity_name": "MTTP",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:24.771564+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSH6 was added\ngene: MSH6 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: MSH6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSH6 were set to Colorectal cancer, hereditary nonpolyposis, type 5, MIM# 614350",
"entity_name": "MSH6",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:24.589720+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MSH2 was added\ngene: MSH2 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: MSH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MSH2 were set to Colorectal cancer, hereditary nonpolyposis, type 1, MIM# 120435",
"entity_name": "MSH2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:24.406561+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPL were set to 11133753\nPhenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, MIM# 604498",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:24.286842+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPIG6B was added\ngene: MPIG6B was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MPIG6B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPIG6B were set to 29898956; 31276734; 27743390\nPhenotypes for gene: MPIG6B were set to Thrombocytopenia, anemia, and myelofibrosis, MIM# 617441",
"entity_name": "MPIG6B",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:24.098013+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MPI were set to 32266963; 10980531; 12414827; 33098580; 32905087; 30242110; 33204592; 9585601\nPhenotypes for gene: MPI were set to MPI-CDG MONDO:0011257; Congenital disorder of glycosylation, type Ib, MIM# 602579",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:23.911749+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MLH1 was added\ngene: MLH1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: MLH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MLH1 were set to Colorectal cancer, hereditary nonpolyposis, type 2, MIM# 609310",
"entity_name": "MLH1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:23.778864+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MESD was added\ngene: MESD was added to Transplant Co-Morbidity Superpanel. Sources: Other,Expert Review Green\nMode of inheritance for gene: MESD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MESD were set to 31564437\nPhenotypes for gene: MESD were set to Osteogenesis imperfecta, type XX, MIM# 618644",
"entity_name": "MESD",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:23.587323+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1, MIM# 131100",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:23.406107+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MED12 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MED12 were set to Lujan-Fryns syndrome, MIM# 309520",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:23.288873+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MECOM was added\ngene: MECOM was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MECOM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MECOM were set to Radioulnar synostosis with amegakaryocytic thrombocytopenia 2, MIM# 616738",
"entity_name": "MECOM",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:23.136869+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MCFD2 was added\ngene: MCFD2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MCFD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MCFD2 were set to 16304051; 18391077; 12717434\nPhenotypes for gene: MCFD2 were set to Factor V and factor VIII, combined deficiency of, MIM# 613625; MONDO:0013331",
"entity_name": "MCFD2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:22.916277+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAX was added\ngene: MAX was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: MAX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAX were set to 34012068\nPhenotypes for gene: MAX were set to {Pheochromocytoma, susceptibility to} 171300",
"entity_name": "MAX",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:22.786064+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome, MIM# 214500",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:22.612686+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRP5 was added\ngene: LRP5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: LRP5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: LRP5 were set to Osteopetrosis, autosomal dominant 1, MIM# 607634",
"entity_name": "LRP5",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:22.484637+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LPL was added\ngene: LPL was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LPL were set to Lipoprotein lipase deficiency, Hyperlipoproteinemia, Combined hyperlipidemia, familial",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:22.311391+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LOX was added\ngene: LOX was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: LOX was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LOX were set to 30675029; 30071989; 26838787\nPhenotypes for gene: LOX were set to Aortic aneurysm, familial thoracic 10, MIM# 617168",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:22.188950+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: LMNA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LMNA were set to 33947203\nPhenotypes for gene: LMNA were set to Cardiomyopathy, dilated, 1A, MIM# 115200",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:22.000726+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMF1 was added\ngene: LMF1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMF1 were set to Combined lipase deficiency",
"entity_name": "LMF1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:21.869983+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LMAN1 was added\ngene: LMAN1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: LMAN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMAN1 were set to 16304051; 9546392\nPhenotypes for gene: LMAN1 were set to MONDO:0009206; Combined factor V and VIII deficiency, MIM# 227300",
"entity_name": "LMAN1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:21.692428+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LIPC was added\ngene: LIPC was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: LIPC was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: LIPC were set to 1671786; 12777476; 23219720; 26423094; 1883393; 22464213\nPhenotypes for gene: LIPC were set to Inherited mixed hyperlipidaemias; Hepatic lipase deficiency MIM#614025; hyperalphalipoproteinemia",
"entity_name": "LIPC",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:21.572442+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPA were set to Wolman disease, Cholesterol ester storage disease",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:21.393701+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LDLRAP1 was added\ngene: LDLRAP1 was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LDLRAP1 were set to 4351242\nPhenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, 4, MIM# 603813",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:21.208521+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LDLR was added\ngene: LDLR was added to Transplant Co-Morbidity Superpanel. Sources: Royal Melbourne Hospital,Expert Review Green\nMode of inheritance for gene: LDLR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LDLR were set to Hypercholesterolemia, familial, 1, MIM# 143890",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:21.094525+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LCAT was added\ngene: LCAT was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCAT were set to 30720493; 6624548\nPhenotypes for gene: LCAT were set to Disorders of high density lipoprotein metabolism; Norum disease MIM#245900; Fish-eye disease MIM#136120",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:20.937504+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LAMP2 was added\ngene: LAMP2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: LAMP2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: LAMP2 were set to 25228319; 27165304; 30681346\nPhenotypes for gene: LAMP2 were set to Danon disease, MIM#300257",
"entity_name": "LAMP2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:20.783015+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KLHL24 was added\ngene: KLHL24 was added to Transplant Co-Morbidity Superpanel. Sources: Literature,Expert Review Green\nMode of inheritance for gene: KLHL24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLHL24 were set to 27798626; 30715372; 27889062\nPhenotypes for gene: KLHL24 were set to Cardiomyopathy, familial hypertrophic, 29, with polyglucosan bodies, MIM# 620236",
"entity_name": "KLHL24",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:20.598750+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KDSR was added\ngene: KDSR was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: KDSR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDSR were set to 28774589; 30467204\nPhenotypes for gene: KDSR were set to Erythrokeratodermia variabilis et progressiva 4, MIM# 617526; severe thrombocytopaenia",
"entity_name": "KDSR",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:20.482921+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KDELR2 was added\ngene: KDELR2 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: KDELR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KDELR2 were set to 33053334\nPhenotypes for gene: KDELR2 were set to Increased susceptibility to fractures; Bowing of the legs; Osteogenesis imperfecta 21, MIM# 619131; joint hypermobility; Bowing of the arms; Scoliosis",
"entity_name": "KDELR2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:20.306887+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: KCNQ1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: KCNQ1 were set to 20301308; 34557911\nPhenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome 220400; Long QT syndrome 1, MIM# 192500; Long QT syndrome 1, 192500; Atrial fibrillation, familial, 3 607554; Short QT syndrome 2 609621",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:20.191684+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ2 was added\ngene: KCNJ2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: KCNJ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ2 were set to 31983240; 34557911\nPhenotypes for gene: KCNJ2 were set to Short QT syndrome; long QT syndrome; Andersen-Tawil syndrome",
"entity_name": "KCNJ2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:20.076762+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: KCNJ11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNJ11 were set to Diabetes mellitus, trans; Maturity Onset Diabetes of the Young (Dominant); Diabetes Mellitus, Permanent Neonatal; Transient Neonatal diabetes mellitus (Dominant); {Diabetes mellitus, type 2, susceptibility to}, 125853; Transient Neonatal Diabetes, Dominant; Diabetes mellitus, permanent neonatal, with neurologic features, 606176; Diabetes, permanent neonatal, 606176; Diabetes mellitus, transient neonatal, 3, 610582; Diabetes Mellitus, Transient Neonatal, 3; Diabetes Mellitus, Permanent Neonatal diabetes mellitus (Dominant and recessive); Hyperinsulinemic hypoglycemia, familial, 2, 601820Diabetes, permanent neonatal, 606176Diabetes mellitus, permanent neonatal, with neurologic features, 606176{Diabetes mellitus, type 2, susceptibility to}, 125853Diabetes mellitus, transient neonatal, 3, 610582; Maturity Onset Diabetes of the Young; Transient Neonatal, 3; Hyperinsulinemic hypoglycemia, familial, 2, 601820\nMode of pathogenicity for gene: KCNJ11 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:19.896576+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KCNH2 was added\ngene: KCNH2 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: KCNH2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNH2 were set to 31983240\nPhenotypes for gene: KCNH2 were set to Long QT syndrome 2, MIM# 613688; Short QT syndrome",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:19.779738+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: JUP was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: JUP were set to 17924338; 33831308; 16722579\nPhenotypes for gene: JUP were set to Arrhythmogenic right ventricular dysplasia 12 MIM# 611528; Naxos disease MIM# 601214",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:19.606875+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITGB3 was added\ngene: ITGB3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: ITGB3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITGB3 were set to 19336737; 20081061; 18065693; 23253071\nPhenotypes for gene: ITGB3 were set to Bleeding disorder, platelet-type, 24, MIM#619271; MONDO:0008552",
"entity_name": "ITGB3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:19.472926+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITGA2B was added\ngene: ITGA2B was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: ITGA2B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ITGA2B were set to 21454453; 8282784; 1638023; 16463284\nPhenotypes for gene: ITGA2B were set to Glanzmann thrombasthaenia 1, MIM# 273800; MONDO:000855; Bleeding disorder, platelet-type, 16, MIM# 187800",
"entity_name": "ITGA2B",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:19.299142+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: INSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: INSR were set to 8288049\nPhenotypes for gene: INSR were set to Pineal Hyperplasia, Insulin-Resistant Diabetes Mellitus, And Somatic Abnormalities; Diabetes Mellitus, Insulin-Resistant, With Acanthosis Nigricans; OMIM 610549; Rabson-Mendenhall syndrome, 262190; Pineal Hyperplasia,Insulin- Resistant Diabetes Mellitus, and Somatic Abnormalities; Diabetes Mellitus, Insulin Resistant, with Acanthosis Nigricans; Diabetes mellitus, insulin-resistant, with acanthosis nigricans, 610549; Diabetes mellitus, insulin-resistant, with acanthosis nigricans; Hyperinsulinemic hypoglycemia, familial, 5, 609968; Leprechaunism, 246200; DIABETES MELLITUS, INSULIN-RESISTANT, WITH ACANTHOSIS NIGRICANS",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:19.181730+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: INS was added\ngene: INS was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: INS was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: INS were set to Maturity Onset Diabetes of the Young (Dominant); Diabetes mellitus, type 1, 125852; Diabetes mellitus, insulin-dependent, 2, 125852; Transient Neonatal Diabetes, Dominant/Recessive; MATURITY-ONSET DIABETES OF THE YOUNG, TYPE 10; Maturity-onset diabetes of the young, type 10, 613370; Diabetes mellitus, permanent neonatal, 606176; Hyperproinsulinemia, familial, with or without diabetes; Permanent Neonatal diabetes mellitus; Maturity Onset Diabetes of the Young; MODY10",
"entity_name": "INS",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:19.017185+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IKZF5 was added\ngene: IKZF5 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: IKZF5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IKZF5 were set to 31217188\nPhenotypes for gene: IKZF5 were set to Thrombocytopaenia 7, MIM#619130",
"entity_name": "IKZF5",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:18.887452+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFITM5 was added\ngene: IFITM5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: IFITM5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IFITM5 were set to 22863195; 22863190; 32383316; 24519609\nPhenotypes for gene: IFITM5 were set to Osteogenesis imperfecta type V, MIM#610967\nMode of pathogenicity for gene: IFITM5 was set to Other",
"entity_name": "IFITM5",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:18.715583+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HRG was added\ngene: HRG was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: HRG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HRG were set to 11057869; 8236132; 29108964\nPhenotypes for gene: HRG were set to Thrombophilia 11 due to HRG deficiency, MIM# 613116",
"entity_name": "HRG",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:18.587893+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS6 were set to 12548288; 19843503; 17041891\nPhenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, MIM# 614075; MONDO:0013558",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:18.399887+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPS5 was added\ngene: HPS5 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS5 were set to 28296950; 32725903\nPhenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5 (MIM#614074)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:18.278544+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPS4 was added\ngene: HPS4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS4 were set to 12664304; 11836498\nPhenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, MIM# 614073; MONDO:0013556",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:18.117921+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPS3 was added\ngene: HPS3 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS3 were set to 30990103; 11455388; 31621111; 31880485\nPhenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, MIM# 614072; MONDO:0013555",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:17.911842+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPS1 were set to 9497254\nPhenotypes for gene: HPS1 were set to MONDO:0008748; Hermansky-Pudlak syndrome 1, MIM# 203300",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:17.794229+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNF4A were set to 28242437\nPhenotypes for gene: HNF4A were set to Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young 616026; MODY1, 125850; {Diabetes mellitus, noninsulin-dependent}, 125853; Maturity-Onset Diabetes Of The Young, Type 1",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:17.675922+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Transplant Co-Morbidity Superpanel. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to Transient neonatal diabetes; RCAD; RENAL CYSTS AND DIABETES SYNDROME; Maturity-Onset Diabetes Of The Young; renal malformation; {Renal cell carcinoma}, 144700; Renal cysts and diabetes syndrome, 137920; Diabetes mellitus, noninsulin-dependent, 125853; Renal Cysts and Diabetes Syndrome",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:17.505050+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNF1A was added\ngene: HNF1A was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: HNF1A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNF1A were set to 34012068\nPhenotypes for gene: HNF1A were set to MODY, type III , MIM#600496",
"entity_name": "HNF1A",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:17.385312+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HFE was added\ngene: HFE was added to Transplant Co-Morbidity Superpanel. Sources: Melbourne Genomics Health Alliance,Expert Review Green\nMode of inheritance for gene: HFE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE were set to Haemochromatosis, MIM# 235200",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:17.208066+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HCN4 were set to 15123648; 16407510; 12750403; 25145518; 17646576\nPhenotypes for gene: HCN4 were set to Sick sinus syndrome 2, MIM# 163800",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:17.093181+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GPIHBP1 was added\ngene: GPIHBP1 was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Royal Melbourne Hospital,Expert list\nMode of inheritance for gene: GPIHBP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPIHBP1 were set to Hyperlipoproteinemia, type ID",
"entity_name": "GPIHBP1",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:16.905256+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GP9 was added\ngene: GP9 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: GP9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GP9 were set to 32030720; 8049428; 33553065; 31484196\nPhenotypes for gene: GP9 were set to Bernard-Soulier syndrome, type C, MIM# 231200",
"entity_name": "GP9",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:16.780106+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GP6 was added\ngene: GP6 was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: GP6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GP6 were set to 19549989; 23815599; 19552682\nPhenotypes for gene: GP6 were set to Bleeding disorder, platelet-type, 11, MIM# 614201; MONDO:0013623",
"entity_name": "GP6",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:16.599276+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GP1BB was added\ngene: GP1BB was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: GP1BB was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GP1BB were set to 33813986; 33657022; 11222377; 8703016; 10887115; 9116284; 33216977; 1730088; 31997307\nPhenotypes for gene: GP1BB were set to Macrothrombocytopaenia; Bernard-Soulier syndrome, type B, MIM# 231200",
"entity_name": "GP1BB",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:16.474982+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GP1BA was added\ngene: GP1BA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: GP1BA was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GP1BA were set to 24934643\nPhenotypes for gene: GP1BA were set to MONDO:0007930; MONDO:0008332; Bernard-Soulier syndrome, type A1 (recessive), (MIM#231200), AR (AR BSS); von Willebrand disease, platelet-type, (MIM#177820), AD (VWD); Bernard-Soulier syndrome, type A2 (dominant), (MIM#153670) (AD BSS)",
"entity_name": "GP1BA",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:16.302503+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GORAB was added\ngene: GORAB was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum, MIM# 231070",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:16.191355+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Transplant Co-Morbidity Superpanel. Sources: Expert Review Green,Expert list\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GNE were set to 30171045; 25257349; 32505938; 29941673\nPhenotypes for gene: GNE were set to Thrombocytopaenia; Myopathy",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2023-08-01T16:33:16.011024+10:00",
"panel_name": "Transplant Co-Morbidity Superpanel",
"panel_id": 4126,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Transplant Co-Morbidity Superpanel. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GLA were set to 30681346\nPhenotypes for gene: GLA were set to Fabry disease (MIM# 301500)",
"entity_name": "GLA",
"entity_type": "gene"
}
]
}