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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=524",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=522",
"results": [
{
"created": "2023-11-03T16:07:29.807820+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DLG3 was added\ngene: DLG3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLG3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DLG3 were set to Mental retardation, X-linked 90, 300850 (3)",
"entity_name": "DLG3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:29.622156+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DLD was added\ngene: DLD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DLD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DLD were set to Dihydrolipoamide dehydrogenase deficiency, 246900 (3)",
"entity_name": "DLD",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:29.474204+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DKC1 was added\ngene: DKC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DKC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DKC1 were set to Dyskeratosis congenita, X-linked, 305000 (3)",
"entity_name": "DKC1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:29.312895+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DIS3L2 was added\ngene: DIS3L2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DIS3L2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DIS3L2 were set to Perlman syndrome, 267000 (3)",
"entity_name": "DIS3L2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:29.134963+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DHDDS was added\ngene: DHDDS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHDDS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHDDS were set to Retinitis pigmentosa 59, 613861 (3)",
"entity_name": "DHDDS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:28.964357+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DHCR7 was added\ngene: DHCR7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHCR7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR7 were set to Smith-Lemli-Opitz syndrome, 270400 (3)",
"entity_name": "DHCR7",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:28.773612+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DHCR24 was added\ngene: DHCR24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DHCR24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DHCR24 were set to Desmosterolosis, 602398 (3)",
"entity_name": "DHCR24",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:28.599180+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DGUOK was added\ngene: DGUOK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGUOK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGUOK were set to Mitochondrial DNA depletion syndrome 3 (hepatocerebral type), 251880 (3)",
"entity_name": "DGUOK",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:28.404553+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DGAT1 was added\ngene: DGAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DGAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DGAT1 were set to ?Diarrhea 7, protein-losing enteropathy type",
"entity_name": "DGAT1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:28.273847+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DDX11 was added\ngene: DDX11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDX11 were set to Warsaw breakage syndrome, 613398 (3)",
"entity_name": "DDX11",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:28.106339+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DDC was added\ngene: DDC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DDC were set to Aromatic L-amino acid decarboxylase deficiency, 608643 (3)",
"entity_name": "DDC",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:27.906872+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DCX was added\ngene: DCX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: DCX were set to Lissencephaly, X-linked, 300067 (3)",
"entity_name": "DCX",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:27.774108+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DCLRE1C was added\ngene: DCLRE1C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCLRE1C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCLRE1C were set to Severe combined immunodeficiency, Athabascan type, 602450 (3)",
"entity_name": "DCLRE1C",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:27.594933+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DCAF17 was added\ngene: DCAF17 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DCAF17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DCAF17 were set to Woodhouse-Sakati syndrome, 241080 (3)",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:27.470516+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: DBT was added\ngene: DBT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: DBT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DBT were set to Maple syrup urine disease, type II, 248600 (3)",
"entity_name": "DBT",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:27.282377+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: D2HGDH was added\ngene: D2HGDH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: D2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: D2HGDH were set to D-2-hydroxyglutaric aciduria, 600721 (3)",
"entity_name": "D2HGDH",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:27.103096+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYP7B1 was added\ngene: CYP7B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP7B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP7B1 were set to Bile acid synthesis defect, congenital, 3, 613812 (3)",
"entity_name": "CYP7B1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:26.986716+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYP27A1 was added\ngene: CYP27A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP27A1 were set to Cerebrotendinous xanthomatosis, 213700 (3)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:26.801943+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYP1B1 was added\ngene: CYP1B1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP1B1 were set to Glaucoma 3A, primary open angle, congenital, juvenile, or adult onset, 231300 (3)",
"entity_name": "CYP1B1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:26.680641+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYP17A1 was added\ngene: CYP17A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP17A1 were set to 17,20-lyase deficiency, isolated, 202110 (3)",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:26.496744+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYP11B2 was added\ngene: CYP11B2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency, 203400 (3)",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:26.365441+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYP11A1 was added\ngene: CYP11A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYP11A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYP11A1 were set to Adrenal insufficiency, congenital, with 46XY sex reversal, partial or complete, 613743 (3)",
"entity_name": "CYP11A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:26.183369+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYBB was added\ngene: CYBB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYBB was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CYBB were set to Chronic granulomatous disease, X-linked, 306400 (3)",
"entity_name": "CYBB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:26.019391+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CYBA was added\ngene: CYBA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CYBA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CYBA were set to Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3)",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:25.884344+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CUL4B was added\ngene: CUL4B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CUL4B was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CUL4B were set to Mental retardation, X-linked, syndromic 15 (Cabezas type), 300354 (3)",
"entity_name": "CUL4B",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:25.712026+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CTSK was added\ngene: CTSK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSK were set to Pycnodysostosis, 265800 (3)",
"entity_name": "CTSK",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:25.578524+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CTSD was added\ngene: CTSD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSD were set to Ceroid lipofuscinosis, neuronal, 10, 610127 (3)",
"entity_name": "CTSD",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:25.416960+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CTSC was added\ngene: CTSC was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSC were set to Papillon-Lefevre syndrome, 245000 (3)",
"entity_name": "CTSC",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:25.271225+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CTSA was added\ngene: CTSA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTSA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTSA were set to Galactosialidosis, 256540 (3)",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:25.100491+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CTNS was added\ngene: CTNS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CTNS were set to Cystinosis, nephropathic, 219800 (3)",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:24.966747+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CSPP1 was added\ngene: CSPP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CSPP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CSPP1 were set to Joubert syndrome 21, 615636 (3)",
"entity_name": "CSPP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:24.803679+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CRTAP was added\ngene: CRTAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CRTAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRTAP were set to Osteogenesis imperfecta, type VII, 610682 (3)",
"entity_name": "CRTAP",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:24.614026+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CRB1 was added\ngene: CRB1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CRB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CRB1 were set to Leber congenital amaurosis 8, 613835 (3)",
"entity_name": "CRB1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:24.486111+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal, 608836 (3)",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:24.298144+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CPT1A was added\ngene: CPT1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CPT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPT1A were set to CPT deficiency, hepatic, type IA, 255120 (3)",
"entity_name": "CPT1A",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:24.176926+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CPS1 was added\ngene: CPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CPS1 were set to Carbamoylphosphate synthetase I deficiency, 237300 (3)",
"entity_name": "CPS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:23.997526+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COX15 was added\ngene: COX15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COX15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COX15 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 2, 615119 (3)",
"entity_name": "COX15",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:23.875127+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COLQ was added\ngene: COLQ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COLQ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLQ were set to Myasthenic syndrome, congenital, 5, 603034 (3)",
"entity_name": "COLQ",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:23.713821+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COLEC11 was added\ngene: COLEC11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COLEC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COLEC11 were set to 3MC syndrome 2, 265050 (3)",
"entity_name": "COLEC11",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:23.572903+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL7A1 was added\ngene: COL7A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL7A1 were set to Epidermolysis bullosa dystrophica, AR, 226600 (3)",
"entity_name": "COL7A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:23.169042+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL6A1 was added\ngene: COL6A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL6A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL6A1 were set to Ullrich congenital muscular dystrophy 1, 254090 (3)",
"entity_name": "COL6A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:22.998212+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL4A5 was added\ngene: COL4A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL4A5 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: COL4A5 were set to Alport syndrome 1, X-linked",
"entity_name": "COL4A5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:22.808520+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL4A4 was added\ngene: COL4A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A4 were set to Alport syndrome, autosomal recessive, 203780 (3)",
"entity_name": "COL4A4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:22.681659+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL4A3 was added\ngene: COL4A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL4A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL4A3 were set to Alport syndrome, autosomal recessive, 203780 (3)",
"entity_name": "COL4A3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:22.492685+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL27A1 was added\ngene: COL27A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL27A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL27A1 were set to Steel Syndrome",
"entity_name": "COL27A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:22.374370+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL18A1 was added\ngene: COL18A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL18A1 were set to Knobloch syndrome, type 1, 267750 (3)",
"entity_name": "COL18A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:22.186919+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL17A1 was added\ngene: COL17A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL17A1 were set to Epidermolysis bullosa, junctional, non-Herlitz type, 226650 (3)",
"entity_name": "COL17A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:22.059751+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: COL11A2 was added\ngene: COL11A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: COL11A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: COL11A2 were set to Fibrochondrogenesis 2, 614524 (3)",
"entity_name": "COL11A2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:21.884732+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CNGB3 was added\ngene: CNGB3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CNGB3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CNGB3 were set to Macular degeneration, juvenile, 248200 (3)",
"entity_name": "CNGB3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:21.708516+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLRN1 was added\ngene: CLRN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLRN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLRN1 were set to Usher syndrome, type 3A, 276902 (3)",
"entity_name": "CLRN1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:21.584851+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLPB was added\ngene: CLPB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLPB were set to 3-methylglutaconic aciduria, type VII, with cataracts, neurologic involvement and neutropenia, 616271 (3)",
"entity_name": "CLPB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:21.414914+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLP1 was added\ngene: CLP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLP1 were set to Pontocerebellar hypoplasia, type 10, 615803 (3)",
"entity_name": "CLP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:21.270717+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLN8 was added\ngene: CLN8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN8 were set to Ceroid lipofuscinosis, neuronal, 8, 600143 (3)",
"entity_name": "CLN8",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:21.091896+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLN6 was added\ngene: CLN6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN6 were set to Ceroid lipofuscinosis, neuronal 6, 601780 (3)",
"entity_name": "CLN6",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:20.912648+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLN5 was added\ngene: CLN5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN5 were set to Ceroid lipofuscinosis, neuronal, 5, 256731 (3)",
"entity_name": "CLN5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:20.778538+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLN3 was added\ngene: CLN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLN3 were set to Ceroid lipofuscinosis, neuronal, 3, 204200 (3)",
"entity_name": "CLN3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:20.618503+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLCN7 was added\ngene: CLCN7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCN7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CLCN7 were set to Osteopetrosis, autosomal recessive 4, 611490 (3)",
"entity_name": "CLCN7",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:20.409876+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CLCN5 was added\ngene: CLCN5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CLCN5 were set to Dent disease, 300009 (3)",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:20.271278+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CKAP2L was added\ngene: CKAP2L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CKAP2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CKAP2L were set to Filippi syndrome, 272440 (3)",
"entity_name": "CKAP2L",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:20.089377+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CIITA was added\ngene: CIITA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CIITA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CIITA were set to Bare lymphocyte syndrome, type II, complementation group A, 209920 (3)",
"entity_name": "CIITA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:19.958165+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CHRNG was added\ngene: CHRNG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNG were set to Escobar syndrome, 265000 (3)",
"entity_name": "CHRNG",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:19.782890+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CHRNE was added\ngene: CHRNE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHRNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHRNE were set to Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3)",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:19.659705+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CHAT was added\ngene: CHAT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CHAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHAT were set to Myasthenic syndrome, congenital, 6, presynaptic, 254210 (3)",
"entity_name": "CHAT",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:19.480834+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CFTR was added\ngene: CFTR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFTR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFTR were set to Cystic fibrosis, 219700 (3)",
"entity_name": "CFTR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:19.310475+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP41 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP41 were set to Joubert syndrome 15, 614464 (3)",
"entity_name": "CEP41",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:19.177214+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP290 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP290 were set to Joubert syndrome 5, 610188 (3)",
"entity_name": "CEP290",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:19.004172+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CEP152 was added\ngene: CEP152 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP152 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP152 were set to Seckel syndrome 5, 613823 (3)",
"entity_name": "CEP152",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:18.871202+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CENPJ was added\ngene: CENPJ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CENPJ was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CENPJ were set to Microcephaly 6, primary, autosomal recessive, 608393 (3)",
"entity_name": "CENPJ",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:18.712509+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CDH23 was added\ngene: CDH23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDH23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH23 were set to Usher syndrome, type 1D, 601067 (3)",
"entity_name": "CDH23",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:18.575861+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CD40LG was added\ngene: CD40LG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD40LG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CD40LG were set to Immunodeficiency, X-linked, with hyper-IgM, 308230 (3)",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:18.402559+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CD40 was added\ngene: CD40 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD40 were set to Immunodeficiency with hyper-IgM, type 3, 606843 (3)",
"entity_name": "CD40",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:18.284527+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CD3D was added\ngene: CD3D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD3D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD3D were set to Immunodeficiency 19, 615617 (3)",
"entity_name": "CD3D",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:18.169047+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CCDC88C was added\ngene: CCDC88C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC88C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC88C were set to Hydrocephalus, nonsyndromic, autosomal recessive, 236600 (3)",
"entity_name": "CCDC88C",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:18.001276+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CCDC39 was added\ngene: CCDC39 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC39 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC39 were set to Ciliary dyskinesia, primary, 14, 613807 (3)",
"entity_name": "CCDC39",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:17.879087+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CCDC103 was added\ngene: CCDC103 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC103 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC103 were set to Ciliary dyskinesia, primary, 17, 614679 (3)",
"entity_name": "CCDC103",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:17.763081+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CCBE1 was added\ngene: CCBE1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCBE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCBE1 were set to Hennekam lymphangiectasia-lymphedema syndrome 1, 235510 (3)",
"entity_name": "CCBE1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:17.594627+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D2A were set to Joubert syndrome 9, 612285 (3)",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:17.478464+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CC2D1A was added\ngene: CC2D1A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CC2D1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CC2D1A were set to Mental retardation, autosomal recessive 3, 608443 (3)",
"entity_name": "CC2D1A",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:17.365764+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CASQ2 was added\ngene: CASQ2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASQ2 were set to 34012068\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:17.197368+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CASK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: CASK were set to Mental retardation, with or without nystagmus",
"entity_name": "CASK",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:17.080278+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CAPN3 was added\ngene: CAPN3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CAPN3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAPN3 were set to Muscular dystrophy, limb-girdle, type 2A, 253600 (3)",
"entity_name": "CAPN3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:16.963886+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CANT1 was added\ngene: CANT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CANT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CANT1 were set to Desbuquois dysplasia, 251450 (3)",
"entity_name": "CANT1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:16.802407+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: C5orf42 was added\ngene: C5orf42 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5orf42 were set to Joubert syndrome 17, 614615 (3)",
"entity_name": "C5orf42",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:16.675885+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BTK was added\ngene: BTK was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BTK were set to Agammaglobulinemia and isolated hormone deficiency, 307200 (3)",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:16.491225+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BSND was added\ngene: BSND was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSND were set to Bartter syndrome, type 4a, 602522 (3)",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:16.377871+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BRWD3 was added\ngene: BRWD3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BRWD3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BRWD3 were set to Mental retardation, X-linked 93, 300659 (3)",
"entity_name": "BRWD3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:16.263600+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BRAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRAT1 were set to Rigidity and multifocal seizure syndrome, lethal neonatal, 614498 (3)",
"entity_name": "BRAT1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:16.093716+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BLM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BLM were set to Bloom syndrome, 210900 (3)",
"entity_name": "BLM",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:15.976033+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCS1L were set to GRACILE syndrome, 603358 (3)",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:15.808410+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCKDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHB were set to Maple syrup urine disease, type Ib, 248600 (3)",
"entity_name": "BCKDHB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:15.712019+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BCKDHA was added\ngene: BCKDHA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCKDHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDHA were set to Maple syrup urine disease, type Ia, 248600 (3)",
"entity_name": "BCKDHA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:15.573277+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS9 were set to Bardet-Biedl syndrome 9, 615986 (3)",
"entity_name": "BBS9",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:15.409239+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS7 were set to Bardet-Biedl syndrome 7, 615984 (3)",
"entity_name": "BBS7",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:15.279674+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS5 were set to Bardet-Biedl syndrome 5, 615983 (3)",
"entity_name": "BBS5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:15.126667+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS4 were set to Bardet-Biedl syndrome 4, 615982 (3)",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:14.987973+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS2 were set to Bardet-Biedl syndrome 2, 615981 (3)",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:14.859834+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS12 were set to Bardet-Biedl syndrome 12, 615989 (3)",
"entity_name": "BBS12",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:14.694644+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS10 were set to Bardet-Biedl syndrome 10, 615987 (3)",
"entity_name": "BBS10",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:14.562243+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BBS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BBS1 were set to Bardet-Biedl syndrome 1, 209900 (3)",
"entity_name": "BBS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:07:14.387293+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to Peters-plus syndrome, 261540 (3)",
"entity_name": "B3GLCT",
"entity_type": "gene"
}
]
}