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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=522",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=520",
"results": [
{
"created": "2023-11-03T16:08:12.885063+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MPL was added\ngene: MPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPL were set to Thrombocytopenia, congenital amegakaryocytic, 604498 (3)",
"entity_name": "MPL",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:12.687566+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MPI was added\ngene: MPI was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MPI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPI were set to Congenital disorder of glycosylation, type Ib, 602579 (3)",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:12.468015+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MOCS2 was added\ngene: MOCS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MOCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS2 were set to Molybdenum cofactor deficiency B, 252160 (3)",
"entity_name": "MOCS2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:12.209324+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MOCS1 was added\ngene: MOCS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MOCS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MOCS1 were set to Molybdenum cofactor deficiency A, 252150 (3)",
"entity_name": "MOCS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:11.993657+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MMADHC was added\ngene: MMADHC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMADHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMADHC were set to Methylmalonic aciduria and homocystinuria, cblD type, 277410 (3)",
"entity_name": "MMADHC",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:11.799690+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MMACHC was added\ngene: MMACHC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMACHC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMACHC were set to Methylmalonic aciduria and homocystinuria, cblC type, 277400 (3)",
"entity_name": "MMACHC",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:11.566595+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MMAB was added\ngene: MMAB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAB were set to Methylmalonic aciduria, vitamin B12-responsive, due to defect in synthesis of adenosylcobalamin, cblB complementation type, 251110 (3)",
"entity_name": "MMAB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:11.325826+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MMAA were set to Methylmalonic aciduria, vitamin B12-responsive, 251100 (3)",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:11.091631+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MLYCD was added\ngene: MLYCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MLYCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLYCD were set to Malonyl-CoA decarboxylase deficiency, 248360 (3)",
"entity_name": "MLYCD",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:10.874541+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MLC1 was added\ngene: MLC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MLC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MLC1 were set to Megalencephalic leukoencephalopathy with subcortical cysts, 604004 (3)",
"entity_name": "MLC1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:10.403942+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MKS1 was added\ngene: MKS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MKS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKS1 were set to Meckel syndrome 1, 249000 (3)",
"entity_name": "MKS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:10.194701+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MKKS was added\ngene: MKKS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MKKS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MKKS were set to McKusick-Kaufman syndrome, 236700 (3)",
"entity_name": "MKKS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:09.987762+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MID1 was added\ngene: MID1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MID1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MID1 were set to Opitz GBBB syndrome, type I, 300000 (3)",
"entity_name": "MID1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:09.780898+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MFSD8 was added\ngene: MFSD8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFSD8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFSD8 were set to Ceroid lipofuscinosis, neuronal, 7, 610951 (3)",
"entity_name": "MFSD8",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:09.562136+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MFN2 was added\ngene: MFN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MFN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MFN2 were set to Charcot-Marie-Tooth disease, axonal, type 2A2B, 617087 (3), Autosomal recessive",
"entity_name": "MFN2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:09.297687+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: METTL23 was added\ngene: METTL23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: METTL23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: METTL23 were set to Mental retardation, autosomal recessive 44, 615942 (3)",
"entity_name": "METTL23",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:09.092179+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MESP2 was added\ngene: MESP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MESP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MESP2 were set to Spondylocostal dysostosis 2, autosomal recessive, 608681 (3)",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:08.879217+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MED17 was added\ngene: MED17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MED17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MED17 were set to Microcephaly, postnatal progressive, with seizures and brain atrophy, 613668 (3)",
"entity_name": "MED17",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:08.659711+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MED12 was added\ngene: MED12 was added to Prepair 500+. Sources: Mackenzie's Mission,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, 309520 (3)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:08.408124+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MECP2 was added\ngene: MECP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MECP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: MECP2 were set to Encephalopathy, neonatal severe, 300673 (3)",
"entity_name": "MECP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:08.189381+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MCPH1 was added\ngene: MCPH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCPH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCPH1 were set to Microcephaly 1, primary, autosomal recessive, 251200 (3)",
"entity_name": "MCPH1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:07.980931+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MCOLN1 was added\ngene: MCOLN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MCOLN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MCOLN1 were set to Mucolipidosis IV, 252650 (3)",
"entity_name": "MCOLN1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:07.559625+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MASP1 was added\ngene: MASP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MASP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MASP1 were set to 3MC syndrome 1, 257920 (3)",
"entity_name": "MASP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:07.300302+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MANBA was added\ngene: MANBA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MANBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MANBA were set to Mannosidosis, beta, 248510 (3)",
"entity_name": "MANBA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:07.081519+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: MAN2B1 was added\ngene: MAN2B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: MAN2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MAN2B1 were set to Mannosidosis, alpha-, types I and II, 248500 (3)",
"entity_name": "MAN2B1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:06.872053+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LZTFL1 was added\ngene: LZTFL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LZTFL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LZTFL1 were set to Bardet-Biedl syndrome 17, 615994 (3)",
"entity_name": "LZTFL1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:06.559778+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LYST was added\ngene: LYST was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LYST was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LYST were set to Chediak-Higashi syndrome, 214500 (3)",
"entity_name": "LYST",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:06.300866+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LRPPRC was added\ngene: LRPPRC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRPPRC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRPPRC were set to Leigh syndrome, French-Canadian type, 220111 (3)",
"entity_name": "LRPPRC",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:06.086029+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LRP2 was added\ngene: LRP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRP2 were set to Donnai-Barrow syndrome, 222448 (3)",
"entity_name": "LRP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:05.875481+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LRAT was added\ngene: LRAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LRAT were set to Leber congenital amaurosis 14, 613341 (3)",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:05.661872+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LPL was added\ngene: LPL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LPL were set to Lipoprotein lipase deficiency, 238600 (3)",
"entity_name": "LPL",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:05.393002+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LMNA was added\ngene: LMNA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LMNA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LMNA were set to 18551513; 17377071; 15148145\nPhenotypes for gene: LMNA were set to Restrictive dermopathy, lethal, 275210 (3)",
"entity_name": "LMNA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:05.206445+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LMBRD1 was added\ngene: LMBRD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LMBRD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LMBRD1 were set to Methylmalonic aciduria and homocystinuria, cblF type, 277380 (3)",
"entity_name": "LMBRD1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:04.927040+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LIPA was added\ngene: LIPA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIPA were set to Cholesteryl ester storage disease, 278000 (3)",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:04.679015+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LIG4 was added\ngene: LIG4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIG4 were set to LIG4 syndrome, 606593 (3)",
"entity_name": "LIG4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:04.402701+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LIFR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LIFR were set to Stuve-Wiedemann syndrome/Schwartz-Jampel type 2 syndrome, 601559 (3)",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:03.998596+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3, 221750 (3)",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:03.769392+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LDLRAP1 was added\ngene: LDLRAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LDLRAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LDLRAP1 were set to Hypercholesterolemia, familial, autosomal recessive, 603813 (3)",
"entity_name": "LDLRAP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:03.501147+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LDLR was added\ngene: LDLR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LDLR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LDLR were set to LDL cholesterol level QTL2/Hypercholesterolemia, familial",
"entity_name": "LDLR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:03.286780+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LCA5 was added\ngene: LCA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LCA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LCA5 were set to Leber congenital amaurosis 5, 604537 (3)",
"entity_name": "LCA5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:03.081230+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LARS was added\ngene: LARS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438",
"entity_name": "LARS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:02.878643+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LARGE1 was added\ngene: LARGE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LARGE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LARGE1 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3)",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:02.675288+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LAMC2 was added\ngene: LAMC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMC2 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)",
"entity_name": "LAMC2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:02.460876+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LAMB3 was added\ngene: LAMB3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)",
"entity_name": "LAMB3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:02.203545+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LAMB2 was added\ngene: LAMB2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB2 were set to Pierson syndrome, 609049 (3)",
"entity_name": "LAMB2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:02.007680+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LAMB1 was added\ngene: LAMB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMB1 were set to Lissencephaly 5, 615191 (3)",
"entity_name": "LAMB1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:01.761527+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LAMA3 was added\ngene: LAMA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA3 were set to Epidermolysis bullosa, junctional, Herlitz type, 226700 (3)",
"entity_name": "LAMA3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:01.492364+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LAMA2 was added\ngene: LAMA2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: LAMA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LAMA2 were set to Muscular dystrophy, congenital merosin-deficient, 607855 (3)",
"entity_name": "LAMA2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:01.258268+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, 236792 (3)",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:00.983242+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: L1CAM was added\ngene: L1CAM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: L1CAM was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: L1CAM were set to MASA syndrome, 303350 (3)",
"entity_name": "L1CAM",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:00.776407+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KRT14 was added\ngene: KRT14 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KRT14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KRT14 were set to Epidermolysis bullosa simplex, recessive 1, 601001 (3)",
"entity_name": "KRT14",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:00.323014+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KIF7 was added\ngene: KIF7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIF7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF7 were set to Hydrolethalus syndrome 2, 614120 (3)",
"entity_name": "KIF7",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:00.068128+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KIF1A was added\ngene: KIF1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KIF1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KIF1A were set to Spastic paraplegia 30, autosomal recessive, 610357 (3)",
"entity_name": "KIF1A",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:59.802986+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KDM5C was added\ngene: KDM5C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KDM5C was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: KDM5C were set to Mental retardation, X-linked, syndromic, Claes-Jensen type, 300534 (3)",
"entity_name": "KDM5C",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:59.597732+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNQ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNQ1 were set to 29033053; 28438721\nPhenotypes for gene: KCNQ1 were set to Jervell and Lange-Nielsen syndrome, 220400 (3)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:59.391140+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KCNJ11 was added\ngene: KCNJ11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNJ11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ11 were set to Hyperinsulinemic hypoglycemia, familial, 2, 601820 (3)",
"entity_name": "KCNJ11",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:59.180969+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, 241200 (3)",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:58.969383+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KATNB1 was added\ngene: KATNB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: KATNB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: KATNB1 were set to Lissencephaly 6, with microcephaly, 616212 (3)",
"entity_name": "KATNB1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:58.713287+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: JAK3 was added\ngene: JAK3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:58.489442+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:58.295300+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ITPR1 was added\ngene: ITPR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:58.082811+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:57.679894+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ITGA6 was added\ngene: ITGA6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA6 were set to 27607025; 31502654; 20301336; 9158140; 34525201\nPhenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:57.474158+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IQSEC2 was added\ngene: IQSEC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:57.269763+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:57.060303+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:56.815286+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IL7R was added\ngene: IL7R was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:56.567341+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IL2RG was added\ngene: IL2RG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:56.295487+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IL1RAPL1 was added\ngene: IL1RAPL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:56.073947+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IKBKB was added\ngene: IKBKB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:55.798388+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:55.600274+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:55.391255+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IDS was added\ngene: IDS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:54.976579+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:54.774485+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HUWE1 was added\ngene: HUWE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:54.562046+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HSD3B2 was added\ngene: HSD3B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:54.363230+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:54.161582+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HSD17B10 was added\ngene: HSD17B10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:53.963589+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:53.770618+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HPS5 was added\ngene: HPS5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:53.568121+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HPS4 was added\ngene: HPS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:53.302973+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HPS3 was added\ngene: HPS3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:53.091373+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:52.870786+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:52.477155+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:52.277957+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HMGCS2 was added\ngene: HMGCS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:52.063541+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:51.805460+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:51.601316+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:51.398358+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HGSNAT was added\ngene: HGSNAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:51.194565+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:50.987378+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:50.793312+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:50.589260+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:50.381042+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HBB was added\ngene: HBB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:50.164136+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HAX1 was added\ngene: HAX1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:49.971915+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:49.718831+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:49.519133+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:49.281381+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HADH was added\ngene: HADH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)",
"entity_name": "HADH",
"entity_type": "gene"
}
]
}