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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=818",
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{
"created": "2022-06-01T16:47:55.198445+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JUP was added\ngene: JUP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JUP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JUP were set to Naxos disease, 601214 (3)",
"entity_name": "JUP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:54.911625+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAM3 was added\ngene: JAM3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JAM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAM3 were set to Hemorrhagic destruction of the brain, subependymal calcification, and cataracts, 613730 (3)",
"entity_name": "JAM3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:54.621801+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAK3 was added\ngene: JAK3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JAK3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAK3 were set to SCID, autosomal recessive, T-negative/B-positive type, 600802 (3)",
"entity_name": "JAK3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:54.122525+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: JAGN1 was added\ngene: JAGN1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: JAGN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: JAGN1 were set to Neutropenia, severe congenital, 6, autosomal recessive, 616022 (3)",
"entity_name": "JAGN1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:53.904049+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IVD was added\ngene: IVD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IVD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IVD were set to Isovaleric acidemia, 243500 (3)",
"entity_name": "IVD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:53.621846+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITPR1 was added\ngene: ITPR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITPR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITPR1 were set to Gillespie syndrome, 206700 (3), Autosomal recessive",
"entity_name": "ITPR1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:53.399636+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITK was added\ngene: ITK was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITK were set to Lymphoproliferative syndrome 1, 613011 (3)",
"entity_name": "ITK",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:53.111930+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB4 was added\ngene: ITGB4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB4 were set to Epidermolysis bullosa, junctional, with pyloric atresia, 226730 (3)",
"entity_name": "ITGB4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:52.627136+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGB2 was added\ngene: ITGB2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGB2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGB2 were set to Leukocyte adhesion deficiency, 116920 (3)",
"entity_name": "ITGB2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:52.407530+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITGA6 was added\ngene: ITGA6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITGA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITGA6 were set to Epidermolysis bullosa, junctional, with pyloric stenosis, 226730 (3)",
"entity_name": "ITGA6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:52.137636+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ITCH was added\ngene: ITCH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ITCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ITCH were set to Autoimmune disease, multisystem, with facial dysmorphism, 613385 (3)",
"entity_name": "ITCH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:51.919538+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISPD was added\ngene: ISPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ISPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISPD were set to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7, 614643 (3)",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:51.615946+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ISCA2 was added\ngene: ISCA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ISCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ISCA2 were set to Multiple mitochondrial dysfunctions syndrome 4, 616370 (3)",
"entity_name": "ISCA2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:51.392273+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQSEC2 was added\ngene: IQSEC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1, 309530 (3)",
"entity_name": "IQSEC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:50.896952+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IQCB1 was added\ngene: IQCB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IQCB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IQCB1 were set to Senior-Loken syndrome 5, 609254 (3)",
"entity_name": "IQCB1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:50.615263+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INVS was added\ngene: INVS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INVS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INVS were set to Nephronophthisis 2, infantile, 602088 (3)",
"entity_name": "INVS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:50.327887+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INSR was added\ngene: INSR was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INSR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INSR were set to Leprechaunism, 246200 (3)",
"entity_name": "INSR",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:50.103938+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPPL1 was added\ngene: INPPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INPPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPPL1 were set to Opsismodysplasia, 258480 (3)",
"entity_name": "INPPL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:49.824333+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPP5K was added\ngene: INPP5K was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INPP5K was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5K were set to Muscular dystrophy, congenital, with cataracts and intellectual disability, 617404 (3), Autosomal recessive",
"entity_name": "INPP5K",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:49.397010+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: INPP5E was added\ngene: INPP5E was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: INPP5E was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: INPP5E were set to Joubert syndrome 1, 213300 (3)",
"entity_name": "INPP5E",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:49.110176+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL7R was added\ngene: IL7R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL7R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL7R were set to Severe combined immunodeficiency, T-cell negative, B-cell/natural killer cell-positive type, 608971 (3)",
"entity_name": "IL7R",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:48.875597+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL2RG was added\ngene: IL2RG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL2RG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL2RG were set to Severe combined immunodeficiency, X-linked, 300400 (3)",
"entity_name": "IL2RG",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:48.608804+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RN was added\ngene: IL1RN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL1RN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL1RN were set to Interleukin 1 receptor antagonist deficiency, 612852 (3)",
"entity_name": "IL1RN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:48.330782+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL1RAPL1 was added\ngene: IL1RAPL1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL1RAPL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IL1RAPL1 were set to Mental retardation, X-linked 21/34, 300143 (3)",
"entity_name": "IL1RAPL1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:48.111207+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL17RA was added\ngene: IL17RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL17RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL17RA were set to Immunodeficiency 51, 613953 (3), Autosomal recessive",
"entity_name": "IL17RA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:47.689158+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL12RB1 was added\ngene: IL12RB1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL12RB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL12RB1 were set to Immunodeficiency 30, 614891 (3)",
"entity_name": "IL12RB1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:46.918708+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL11RA was added\ngene: IL11RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL11RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL11RA were set to Craniosynostosis and dental anomalies, 614188 (3)",
"entity_name": "IL11RA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:46.629429+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10RB was added\ngene: IL10RB was added to Reproductive Carrier Screen_VCGS. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: IL10RB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IL10RB were set to 22549091\nPhenotypes for gene: IL10RB were set to Inflammatory bowel disease 25, early onset, #MIM612657",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:46.407661+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IL10RA was added\ngene: IL10RA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IL10RA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IL10RA were set to Inflammatory bowel disease 28, early onset, autosomal recessive, 613148 (3)",
"entity_name": "IL10RA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:46.190716+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKG was added\ngene: IKBKG was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IKBKG was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IKBKG were set to Ectodermal, dysplasia, anhidrotic, lymphedema and immunodeficiency, 300301 (3)",
"entity_name": "IKBKG",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:45.915227+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IKBKB was added\ngene: IKBKB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IKBKB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IKBKB were set to Immunodeficiency 15, 615592 (3)",
"entity_name": "IKBKB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:45.468988+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHMBP2 was added\ngene: IGHMBP2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGHMBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHMBP2 were set to Neuronopathy, distal hereditary motor, type VI, 604320 (3)",
"entity_name": "IGHMBP2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:45.232982+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGHM was added\ngene: IGHM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGHM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGHM were set to Agammaglobulinemia 1, 601495 (3)",
"entity_name": "IGHM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:44.835075+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGFBP7 was added\ngene: IGFBP7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGFBP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGFBP7 were set to Retinal arterial macroaneurysm with supravalvular pulmonic stenosis, 614224 (3)",
"entity_name": "IGFBP7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:44.604310+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IGF1R was added\ngene: IGF1R was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IGF1R was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IGF1R were set to Insulin-like growth factor I, resistance to, 270450 (3)",
"entity_name": "IGF1R",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:44.325105+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT80 was added\ngene: IFT80 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IFT80 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT80 were set to Short-rib thoracic dysplasia 2 with or without polydactyly, 611263 (3)",
"entity_name": "IFT80",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:44.095401+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IFT172 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT172 were set to Short-rib thoracic dysplasia 10 with or without polydactyly, 615630 (3)",
"entity_name": "IFT172",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:43.812804+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IFT140 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT140 were set to Short-rib thoracic dysplasia 9 with or without polydactyly, 266920 (3)",
"entity_name": "IFT140",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:43.328219+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT122 was added\ngene: IFT122 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IFT122 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFT122 were set to Cranioectodermal dysplasia 1, 218330 (3)",
"entity_name": "IFT122",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:43.113336+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFNGR2 was added\ngene: IFNGR2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IFNGR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFNGR2 were set to Immunodeficiency 28, mycobacteriosis, 614889 (3)",
"entity_name": "IFNGR2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:42.892555+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFNGR1 was added\ngene: IFNGR1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IFNGR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IFNGR1 were set to Immunodeficiency 27A, mycobacteriosis, AR, 209950 (3)",
"entity_name": "IFNGR1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:42.614814+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IER3IP1 was added\ngene: IER3IP1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IER3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IER3IP1 were set to Microcephaly, epilepsy, and diabetes syndrome, 614231 (3)",
"entity_name": "IER3IP1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:42.390596+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IDUA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IDUA were set to Mucopolysaccharidosis Ih, 607014 (3)",
"entity_name": "IDUA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:42.113575+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDS was added\ngene: IDS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IDS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: IDS were set to Mucopolysaccharidosis II, 309900 (3)",
"entity_name": "IDS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:41.897820+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICOS was added\ngene: ICOS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ICOS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ICOS were set to Immunodeficiency, common variable, 1, 607594 (3)",
"entity_name": "ICOS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:41.415099+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IBA57 were set to Multiple mitochondrial dysfunctions syndrome 3, 615330 (3), Autosomal recessive",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:41.202629+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS2 was added\ngene: IARS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IARS2 were set to ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia",
"entity_name": "IARS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:40.913584+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS was added\ngene: IARS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: IARS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: IARS were set to Growth retardation, intellectual developmental disorder, hypotonia, and hepatopathy, 617093 (3), Autosomal recessive",
"entity_name": "IARS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:40.615629+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HYLS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYLS1 were set to Hydrolethalus syndrome, 236680 (3)",
"entity_name": "HYLS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:40.326998+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYDIN was added\ngene: HYDIN was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HYDIN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HYDIN were set to Ciliary dyskinesia, primary, 5, 608647 (3)",
"entity_name": "HYDIN",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:39.828374+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HUWE1 was added\ngene: HUWE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HUWE1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HUWE1 were set to Mental retardation, X-linked syndromic, Turner type, 300706 (3)",
"entity_name": "HUWE1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:39.615036+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HTRA2 was added\ngene: HTRA2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HTRA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA2 were set to 3-methylglutaconic aciduria, type VIII, 617248 (3), Autosomal recessive",
"entity_name": "HTRA2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:39.402473+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPG2 was added\ngene: HSPG2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSPG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPG2 were set to Schwartz-Jampel syndrome, type 1, 255800 (3)",
"entity_name": "HSPG2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:39.126746+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPD1 was added\ngene: HSPD1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSPD1 were set to Leukodystrophy, hypomyelinating, 4, 612233 (3)",
"entity_name": "HSPD1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:38.911982+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B7 was added\ngene: HSD3B7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSD3B7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B7 were set to Bile acid synthesis defect, congenital, 1, 607765 (3)",
"entity_name": "HSD3B7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:38.690565+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B2 was added\ngene: HSD3B2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD3B2 were set to 3-beta-hydroxysteroid dehydrogenase, type II, deficiency, 201810 (3)",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:38.214819+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSD17B4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HSD17B4 were set to D-bifunctional protein deficiency, 261515 (3)",
"entity_name": "HSD17B4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:38.005263+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B10 was added\ngene: HSD17B10 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HSD17B10 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HSD17B10 were set to HSD10 mitochondrial disease",
"entity_name": "HSD17B10",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:37.724782+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPSE2 was added\ngene: HPSE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPSE2 were set to Urofacial syndrome 1, 236730 (3)",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:37.510240+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS6 were set to Hermansky-Pudlak syndrome 6, 614075 (3)",
"entity_name": "HPS6",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:37.294490+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS5 was added\ngene: HPS5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS5 were set to Hermansky-Pudlak syndrome 5, 614074 (3)",
"entity_name": "HPS5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:37.017585+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS4 was added\ngene: HPS4 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS4 were set to Hermansky-Pudlak syndrome 4, 614073 (3)",
"entity_name": "HPS4",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:36.804825+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS3 was added\ngene: HPS3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS3 were set to Hermansky-Pudlak syndrome 3, 614072 (3)",
"entity_name": "HPS3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:36.524378+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPS1 were set to Hermansky-Pudlak syndrome 1, 203300 (3)",
"entity_name": "HPS1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:36.313357+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome, 300322 (3)",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:36.022709+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPGD was added\ngene: HPGD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPGD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPGD were set to Cranioosteoarthropathy, 259100 (3)",
"entity_name": "HPGD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:35.617782+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HPD were set to Tyrosinemia, type III, 276710 (3)",
"entity_name": "HPD",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:35.404765+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA1 was added\ngene: HOXA1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HOXA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HOXA1 were set to Athabaskan brainstem dysgenesis syndrome, 601536 (3)",
"entity_name": "HOXA1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:35.124569+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCS2 was added\ngene: HMGCS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HMGCS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCS2 were set to HMG-CoA synthase-2 deficiency, 605911 (3)",
"entity_name": "HMGCS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:34.926371+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HMGCL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HMGCL were set to HMG-CoA lyase deficiency, 246450 (3)",
"entity_name": "HMGCL",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:34.695393+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HLCS were set to Holocarboxylase synthetase deficiency, 253270 (3)",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:34.225750+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HK1 were set to Neuropathy, hereditary motor and sensory, Russe type, 605285 (3)",
"entity_name": "HK1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:34.009024+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HINT1 was added\ngene: HINT1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HINT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HINT1 were set to Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3)",
"entity_name": "HINT1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:33.798735+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HIBCH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HIBCH were set to 3-hydroxyisobutryl-CoA hydrolase deficiency, 250620 (3)",
"entity_name": "HIBCH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:33.524753+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HGSNAT was added\ngene: HGSNAT was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HGSNAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HGSNAT were set to Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3)",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:33.318057+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HFE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HFE2 were set to Hemochromatosis, type 2A, 602390 (3)",
"entity_name": "HFE2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:33.106532+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HEXB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXB were set to Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3)",
"entity_name": "HEXB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:32.890837+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease, 272800 (3)",
"entity_name": "HEXA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:32.412824+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HESX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HESX1 were set to Septooptic dysplasia, 182230 (3)",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:32.217711+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HES7 was added\ngene: HES7 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HES7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HES7 were set to Spondylocostal dysostosis 4, autosomal recessive, 613686 (3)",
"entity_name": "HES7",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:31.939774+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HERC2 was added\ngene: HERC2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HERC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HERC2 were set to Mental retardation, autosomal recessive 38, 615516 (3)",
"entity_name": "HERC2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:31.713271+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEPACAM was added\ngene: HEPACAM was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HEPACAM was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3)",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:31.499108+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HCFC1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: HCFC1 were set to Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3)",
"entity_name": "HCFC1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:31.223119+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBB was added\ngene: HBB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HBB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HBB were set to Thalassemias, beta-, 613985 (3)",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:31.014324+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAX1 was added\ngene: HAX1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HAX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAX1 were set to Neutropenia, severe congenital 3, autosomal recessive, 610738 (3)",
"entity_name": "HAX1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:30.530819+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HAMP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HAMP were set to Hemochromatosis, type 2B, 613313 (3)",
"entity_name": "HAMP",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:30.312273+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HADHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHB were set to Trifunctional protein deficiency, 609015 (3)",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:30.092557+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HADHA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADHA were set to Fatty liver, acute, of pregnancy, 609016 (3)",
"entity_name": "HADHA",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:29.815147+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADH was added\ngene: HADH was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HADH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HADH were set to 3-hydroxyacyl-CoA dehydrogenase deficiency, 231530 (3)",
"entity_name": "HADH",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:29.609257+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HACE1 was added\ngene: HACE1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: HACE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HACE1 were set to Spastic paraplegia and psychomotor retardation with or without seizures, 616756 (3), Autosomal recessive",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:29.393892+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GYS2 was added\ngene: GYS2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GYS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GYS2 were set to Glycogen storage disease 0, liver, 240600 (3)",
"entity_name": "GYS2",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:28.918801+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUSB was added\ngene: GUSB was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GUSB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUSB were set to Mucopolysaccharidosis VII, 253220 (3)",
"entity_name": "GUSB",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:28.708622+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2D was added\ngene: GUCY2D was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GUCY2D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2D were set to Leber congenital amaurosis 1, 204000 (3)",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:28.498279+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2C was added\ngene: GUCY2C was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GUCY2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY2C were set to Meconium ileus, 614665 (3)",
"entity_name": "GUCY2C",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:28.233592+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY1A3 was added\ngene: GUCY1A3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GUCY1A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GUCY1A3 were set to Moyamoya 6 with achalasia, 615750 (3)",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:28.016406+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTPBP3 was added\ngene: GTPBP3 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GTPBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTPBP3 were set to Combined oxidative phosphorylation deficiency 23, 616198 (3)",
"entity_name": "GTPBP3",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:27.807184+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GTF2H5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GTF2H5 were set to Trichothiodystrophy 3, photosensitive, 616395 (3)",
"entity_name": "GTF2H5",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:27.393876+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSS was added\ngene: GSS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GSS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GSS were set to Glutathione synthetase deficiency, 266130 (3)",
"entity_name": "GSS",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:27.127335+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM1 was added\ngene: GRM1 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GRM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GRM1 were set to Spinocerebellar ataxia, autosomal recessive 13, 614831 (3)",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-06-01T16:47:26.917376+10:00",
"panel_name": "Reproductive Carrier Screen_VCGS",
"panel_id": 3861,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPT2 were set to Mental retardation, autosomal recessive 49, 616281 (3)",
"entity_name": "GPT2",
"entity_type": "gene"
}
]
}