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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=822",
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{
"created": "2022-06-01T16:46:25.401514+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFI was added\ngene: CFI was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFI were set to Complement factor I deficiency, 610984 (3)",
"entity_name": "CFI",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:25.222493+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFH was added\ngene: CFH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFH were set to Complement factor H deficiency, 609814 (3)",
"entity_name": "CFH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:25.102819+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CFD was added\ngene: CFD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CFD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CFD were set to Complement factor D deficiency, 613912 (3)",
"entity_name": "CFD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:24.932918+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CERS3 was added\ngene: CERS3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CERS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CERS3 were set to Ichthyosis, congenital, autosomal recessive 9, 615023 (3)",
"entity_name": "CERS3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:24.799751+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP78 was added\ngene: CEP78 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP78 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP78 were set to Cone-rod dystrophy and hearing loss, 617236 (3), Autosomal recessive",
"entity_name": "CEP78",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:24.622250+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP41 was added\ngene: CEP41 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:24.503113+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP290 was added\ngene: CEP290 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:24.332798+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP152 was added\ngene: CEP152 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:24.214665+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CEP120 was added\ngene: CEP120 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CEP120 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CEP120 were set to Short-rib thoracic dysplasia 13 with or without polydactyly, 616300 (3)",
"entity_name": "CEP120",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:24.093342+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CENPJ was added\ngene: CENPJ was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:23.930180+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDT1 was added\ngene: CDT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDT1 were set to Meier-Gorlin syndrome 4, 613804 (3)",
"entity_name": "CDT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:23.799934+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK5RAP2 was added\ngene: CDK5RAP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDK5RAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK5RAP2 were set to Microcephaly 3, primary, autosomal recessive, 604804 (3)",
"entity_name": "CDK5RAP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:23.627531+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDK10 was added\ngene: CDK10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDK10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDK10 were set to Al Kaissi syndrome, 617694 (3), Autosomal recessive",
"entity_name": "CDK10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:23.508373+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH3 was added\ngene: CDH3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDH3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH3 were set to Ectodermal dysplasia, ectrodactyly, and macular dystrophy, 225280 (3)",
"entity_name": "CDH3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:23.338740+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH23 was added\ngene: CDH23 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:23.221907+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDH11 was added\ngene: CDH11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDH11 were set to Elsahy-Waters syndrome, 211380 (3), Autosomal recessive",
"entity_name": "CDH11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:23.106373+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC45 was added\ngene: CDC45 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CDC45 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CDC45 were set to Meier-Gorlin syndrome 7, 617063 (3), Autosomal recessive",
"entity_name": "CDC45",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:22.934624+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD55 was added\ngene: CD55 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD55 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD55 were set to Complement hyperactivation, angiopathic thrombosis, and protein-losing enteropathy, 226300 (3), Autosomal recessive",
"entity_name": "CD55",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:22.814137+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD40LG was added\ngene: CD40LG was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:22.703929+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD40 was added\ngene: CD40 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:22.542770+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD3D was added\ngene: CD3D was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:22.202443+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CD27 was added\ngene: CD27 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CD27 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CD27 were set to Lymphoproliferative syndrome 2, 615122 (3)",
"entity_name": "CD27",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:22.039488+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCNO was added\ngene: CCNO was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCNO was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCNO were set to Ciliary diskinesia, primary, 29, 615872 (3)",
"entity_name": "CCNO",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:21.915903+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC88C was added\ngene: CCDC88C was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:21.740325+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC8 was added\ngene: CCDC8 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC8 were set to 3-M syndrome 3, 614205 (3)",
"entity_name": "CCDC8",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:21.615322+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC40 was added\ngene: CCDC40 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC40 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC40 were set to Ciliary dyskinesia, primary, 15, 613808 (3)",
"entity_name": "CCDC40",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:21.496968+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC39 was added\ngene: CCDC39 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:21.327409+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC115 was added\ngene: CCDC115 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC115 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC115 were set to Congenital disorder of glycosylation, type IIo, 616828 (3), Autosomal recessive",
"entity_name": "CCDC115",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:21.205955+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC114 was added\ngene: CCDC114 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CCDC114 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CCDC114 were set to Ciliary dyskinesia, primary, 20, 615067 (3)",
"entity_name": "CCDC114",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:21.031583+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCDC103 was added\ngene: CCDC103 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:20.912474+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CCBE1 was added\ngene: CCBE1 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:20.727846+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D2A was added\ngene: CC2D2A was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:20.610845+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CC2D1A was added\ngene: CC2D1A was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:20.500028+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAVIN1 was added\ngene: CAVIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CAVIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CAVIN1 were set to Lipodystrophy, congenital generalized, type 4, 613327 (3)",
"entity_name": "CAVIN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:20.319805+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CASR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASR were set to Hyperparathyroidism, neonatal, 239200 (3)",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:20.192435+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASQ2 was added\ngene: CASQ2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CASQ2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CASQ2 were set to Ventricular tachycardia, catecholaminergic polymorphic, 2, 611938 (3)",
"entity_name": "CASQ2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:20.037255+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASK was added\ngene: CASK was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:19.910182+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARS2 was added\ngene: CARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARS2 were set to Combined oxidative phosphorylation deficiency 27, 616672 (3), Autosomal recessive",
"entity_name": "CARS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:19.727580+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD9 was added\ngene: CARD9 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CARD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARD9 were set to Candidiasis, familial, 2, autosomal recessive, 212050 (3)",
"entity_name": "CARD9",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:19.613880+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CARD11 was added\ngene: CARD11 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CARD11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CARD11 were set to Immunodeficiency 11, 615206 (3)",
"entity_name": "CARD11",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:19.500614+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CAPN3 was added\ngene: CAPN3 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:19.330908+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CANT1 was added\ngene: CANT1 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:19.212158+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CABP4 was added\ngene: CABP4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CABP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CABP4 were set to Cone-rod synaptic disorder, congenital nonprogressive, 610427 (3)",
"entity_name": "CABP4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:19.098053+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA2 was added\ngene: CA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, 259730 (3)",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:18.933027+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8orf37 was added\ngene: C8orf37 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C8orf37 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8orf37 were set to Cone-rod dystrophy 16, 614500 (3)",
"entity_name": "C8orf37",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:18.813501+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C8B was added\ngene: C8B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C8B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C8B were set to C8 deficiency, type II, 613789 (3)",
"entity_name": "C8B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:18.693977+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C7 was added\ngene: C7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C7 were set to C7 deficiency, 610102 (3)",
"entity_name": "C7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:18.530380+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C6 was added\ngene: C6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C6 were set to C6 deficiency, 612446 (3)",
"entity_name": "C6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:18.413358+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C5orf42 was added\ngene: C5orf42 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:18.302948+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C5 was added\ngene: C5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5 were set to C5 deficiency, 609536 (3)",
"entity_name": "C5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:18.137217+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C3 was added\ngene: C3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C3 were set to C3 deficiency, 613779 (3)",
"entity_name": "C3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:18.027565+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C2CD3 was added\ngene: C2CD3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2CD3 were set to Orofaciodigital syndrome XIV",
"entity_name": "C2CD3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:17.911146+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C21orf2 was added\ngene: C21orf2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C21orf2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C21orf2 were set to Retinal dystrophy with macular staphyloma, 617547 (3), Autosomal recessive",
"entity_name": "C21orf2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:17.794016+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1QC was added\ngene: C1QC was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C1QC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C1QC were set to C1q deficiency, 613652 (3)",
"entity_name": "C1QC",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:17.643811+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1QB was added\ngene: C1QB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C1QB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C1QB were set to C1q deficiency, 613652 (3)",
"entity_name": "C1QB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:17.513038+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C1QA was added\ngene: C1QA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C1QA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C1QA were set to C1q deficiency, 613652 (3)",
"entity_name": "C1QA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:17.337744+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C19orf12 was added\ngene: C19orf12 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C19orf12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C19orf12 were set to Neurodegeneration with brain iron accumulation 4, 614298 (3)",
"entity_name": "C19orf12",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:17.215346+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C12orf65 was added\ngene: C12orf65 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C12orf65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf65 were set to Combined oxidative phosphorylation deficiency 7, 613559 (3)",
"entity_name": "C12orf65",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:17.104355+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: C12orf57 was added\ngene: C12orf57 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: C12orf57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C12orf57 were set to Temtamy syndrome, 218340 (3)",
"entity_name": "C12orf57",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:16.943599+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BUB1B was added\ngene: BUB1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BUB1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BUB1B were set to Mosaic variegated aneuploidy syndrome 1, 257300 (3)",
"entity_name": "BUB1B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:16.818047+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BTK was added\ngene: BTK was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:16.706752+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSND was added\ngene: BSND was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:16.592309+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSCL2 was added\ngene: BSCL2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy, 615924 (3)",
"entity_name": "BSCL2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:16.425740+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRWD3 was added\ngene: BRWD3 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:16.311143+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRF1 was added\ngene: BRF1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BRF1 were set to Cerebellofaciodental syndrome, 616202 (3)",
"entity_name": "BRF1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:16.199797+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BRAT1 was added\ngene: BRAT1 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:16.040550+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BOLA3 was added\ngene: BOLA3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BOLA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BOLA3 were set to Multiple mitochondrial dysfunctions syndrome 2, 614299 (3)",
"entity_name": "BOLA3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:15.925920+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPR1B was added\ngene: BMPR1B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BMPR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMPR1B were set to Acromesomelic dysplasia, Demirhan type, 609441 (3), Autosomal recessive",
"entity_name": "BMPR1B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:15.812475+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BMPER was added\ngene: BMPER was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BMPER was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BMPER were set to Diaphanospondylodysostosis, 608022 (3)",
"entity_name": "BMPER",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:15.698335+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BLM was added\ngene: BLM was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:15.533226+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BIN1 was added\ngene: BIN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BIN1 were set to Myopathy, centronuclear, autosomal recessive, 255200 (3)",
"entity_name": "BIN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:15.422466+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BGN was added\ngene: BGN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BGN was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BGN were set to Meester-Loeys syndrome, 300989 (3), X-linked",
"entity_name": "BGN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:15.306965+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:15.196081+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDK was added\ngene: BCKDK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: BCKDK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: BCKDK were set to Branched-chain ketoacid dehydrogenase kinase deficiency, 614923 (3)",
"entity_name": "BCKDK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:15.043197+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHB was added\ngene: BCKDHB was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.924102+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCKDHA was added\ngene: BCKDHA was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.810403+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS9 was added\ngene: BBS9 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.690846+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS7 was added\ngene: BBS7 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.541543+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS5 was added\ngene: BBS5 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.414795+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS4 was added\ngene: BBS4 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.298977+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS2 was added\ngene: BBS2 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.136442+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS12 was added\ngene: BBS12 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:14.029890+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS10 was added\ngene: BBS10 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:13.916772+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BBS1 was added\ngene: BBS1 was added to Reproductive Carrier Screen_VCGS. 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": "2022-06-01T16:46:13.795393+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALT7 was added\ngene: B4GALT7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B4GALT7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALT7 were set to Ehlers-Danlos syndrome, progeroid type, 1, 130070 (3)",
"entity_name": "B4GALT7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:13.630156+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B4GALNT1 was added\ngene: B4GALNT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B4GALNT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B4GALNT1 were set to Spastic paraplegia 26, autosomal recessive, 609195 (3)",
"entity_name": "B4GALNT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:13.521812+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GLCT was added\ngene: B3GLCT was added to Reproductive Carrier Screen_VCGS. 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"
},
{
"created": "2022-06-01T16:46:13.406017+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GAT3 was added\ngene: B3GAT3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GAT3 were set to Multiple joint dislocations, short stature, craniofacial dysmorphism, and congenital heart defects, 245600 (3)",
"entity_name": "B3GAT3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:13.293911+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GALT6 was added\ngene: B3GALT6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GALT6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GALT6 were set to Spondyloepimetaphyseal dysplasia with joint laxity, type 1, with or without fractures, 271640 (3)",
"entity_name": "B3GALT6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:13.133338+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: B3GALNT2 was added\ngene: B3GALNT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: B3GALNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GALNT2 were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 11, 615181 (3)",
"entity_name": "B3GALNT2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:13.018579+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AUH was added\ngene: AUH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AUH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AUH were set to 3-methylglutaconic aciduria, type I, 250950 (3)",
"entity_name": "AUH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.913594+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATRX was added\ngene: ATRX was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATRX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATRX were set to Mental retardation-hypotonic facies syndrome, X-linked, 309580 (3)",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.793914+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATR was added\ngene: ATR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATR were set to Seckel syndrome 1, 210600 (3)",
"entity_name": "ATR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.628746+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP8B1 was added\ngene: ATP8B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP8B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8B1 were set to Cholestasis, progressive familial intrahepatic 1, 211600 (3)",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.521203+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP8A2 was added\ngene: ATP8A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP8A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP8A2 were set to ?Cerebellar ataxia, mental retardation, and dysequilibrium syndrome 4",
"entity_name": "ATP8A2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.408142+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7B was added\ngene: ATP7B was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP7B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP7B were set to Wilson disease, 277900 (3)",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.295705+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP7A was added\ngene: ATP7A was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP7A was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ATP7A were set to Menkes disease, 309400 (3)",
"entity_name": "ATP7A",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.136511+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V1B1 was added\ngene: ATP6V1B1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6V1B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V1B1 were set to Renal tubular acidosis with deafness, 267300 (3)",
"entity_name": "ATP6V1B1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:12.022695+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A4 was added\ngene: ATP6V0A4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6V0A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A4 were set to Renal tubular acidosis, distal, autosomal recessive, 602722 (3)",
"entity_name": "ATP6V0A4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:46:11.912090+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATP6V0A2 was added\ngene: ATP6V0A2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ATP6V0A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ATP6V0A2 were set to Cutis laxa, autosomal recessive, type IIA, 219200 (3)",
"entity_name": "ATP6V0A2",
"entity_type": "gene"
}
]
}