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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1843",
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"results": [
{
"created": "2020-04-19T20:56:14.348360+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT172 was added\ngene: IFT172 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:13.843988+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT140 was added\ngene: IFT140 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:13.342369+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFT122 was added\ngene: IFT122 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:12.848706+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFNGR2 was added\ngene: IFNGR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:12.044007+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IFNGR1 was added\ngene: IFNGR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:11.646999+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IER3IP1 was added\ngene: IER3IP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:11.145147+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDUA was added\ngene: IDUA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:10.650574+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IDS was added\ngene: IDS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:10.147660+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ICOS was added\ngene: ICOS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:09.742561+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:09.242496+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS2 was added\ngene: IARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:08.442086+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: IARS was added\ngene: IARS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:07.930332+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYLS1 was added\ngene: HYLS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:07.427849+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HYDIN was added\ngene: HYDIN was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:06.939719+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HUWE1 was added\ngene: HUWE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:06.427223+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HTRA2 was added\ngene: HTRA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:05.942186+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPG2 was added\ngene: HSPG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:05.448052+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSPD1 was added\ngene: HSPD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:04.646916+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B7 was added\ngene: HSD3B7 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:04.245146+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B2 was added\ngene: HSD3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:03.745441+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B4 was added\ngene: HSD17B4 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:03.252281+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD17B10 was added\ngene: HSD17B10 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:02.749001+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPSE2 was added\ngene: HPSE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:01.948676+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS6 was added\ngene: HPS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:01.448001+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS5 was added\ngene: HPS5 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:01.048207+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS4 was added\ngene: HPS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:00.647485+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS3 was added\ngene: HPS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:56:00.149368+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPS1 was added\ngene: HPS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:59.736765+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:59.045160+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPGD was added\ngene: HPGD was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:58.568520+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPD was added\ngene: HPD was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:58.147509+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOXA1 was added\ngene: HOXA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:57.661261+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCS2 was added\ngene: HMGCS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:57.233495+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HMGCL was added\ngene: HMGCL was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:56.748835+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:56.342701+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HK1 was added\ngene: HK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:55.844996+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HFE2 was added\ngene: HFE2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:55.123665+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HINT1 was added\ngene: HINT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:54.638642+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HIBCH was added\ngene: HIBCH was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:54.155157+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HGSNAT was added\ngene: HGSNAT was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:53.725484+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXB was added\ngene: HEXB was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:53.243937+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEXA was added\ngene: HEXA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:52.747563+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:51.947429+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HES7 was added\ngene: HES7 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:51.544238+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HERC2 was added\ngene: HERC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:51.061644+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEPACAM was added\ngene: HEPACAM was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:50.649713+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HCFC1 was added\ngene: HCFC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:50.246616+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HBB was added\ngene: HBB was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:49.761361+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAX1 was added\ngene: HAX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:49.349767+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HAMP was added\ngene: HAMP was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:48.646562+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHB was added\ngene: HADHB was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:48.145101+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADHA was added\ngene: HADHA was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:47.646421+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HADH was added\ngene: HADH was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:47.249293+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HACE1 was added\ngene: HACE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:46.842110+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GYS2 was added\ngene: GYS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:46.448349+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUSB was added\ngene: GUSB was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:45.746749+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2D was added\ngene: GUCY2D was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:45.347663+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY2C was added\ngene: GUCY2C was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:44.862369+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GUCY1A3 was added\ngene: GUCY1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:44.355599+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTPBP3 was added\ngene: GTPBP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:43.942988+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GTF2H5 was added\ngene: GTF2H5 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:43.525705+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSS was added\ngene: GSS was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:43.042219+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRM1 was added\ngene: GRM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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": "2020-04-19T20:55:42.644223+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPT2 was added\ngene: GPT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. 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"
},
{
"created": "2020-04-19T20:55:41.847068+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPSM2 was added\ngene: GPSM2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPSM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPSM2 were set to Chudley-McCullough syndrome, 604213 (3)",
"entity_name": "GPSM2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:41.347764+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR179 was added\ngene: GPR179 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPR179 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPR179 were set to Night blindness, congenital stationary (complete), 1E, autosomal recessive, 614565 (3)",
"entity_name": "GPR179",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:40.945081+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPR143 was added\ngene: GPR143 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPR143 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPR143 were set to Ocular albinism, type I, Nettleship-Falls type, 300500 (3)",
"entity_name": "GPR143",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:40.451943+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPHN was added\ngene: GPHN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPHN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPHN were set to Molybdenum cofactor deficiency C, 615501 (3)",
"entity_name": "GPHN",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:40.042690+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC6 was added\ngene: GPC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPC6 were set to Omodysplasia 1, 258315 (3)",
"entity_name": "GPC6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:39.626924+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPC3 was added\ngene: GPC3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPC3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GPC3 were set to Simpson-Golabi-Behmel syndrome, type 1, 312870 (3)",
"entity_name": "GPC3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:39.132961+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GPAA1 was added\ngene: GPAA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GPAA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPAA1 were set to Glycosylphosphatidylinositol biosynthesis defect 15, 617810 (3), Autosomal recessive",
"entity_name": "GPAA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:38.468130+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GOSR2 was added\ngene: GOSR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GOSR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GOSR2 were set to Epilepsy, progressive myoclonic 6, 614018 (3)",
"entity_name": "GOSR2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:38.061039+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GORAB was added\ngene: GORAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GORAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GORAB were set to Geroderma osteodysplasticum, 231070 (3)",
"entity_name": "GORAB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:37.652706+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNS was added\ngene: GNS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNS were set to Mucopolysaccharidosis type IIID, 252940 (3)",
"entity_name": "GNS",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:37.261225+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTG was added\ngene: GNPTG was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNPTG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTG were set to Mucolipidosis III gamma, 252605 (3)",
"entity_name": "GNPTG",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:36.847188+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPTAB was added\ngene: GNPTAB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNPTAB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPTAB were set to Mucolipidosis III alpha/beta, 252600 (3)",
"entity_name": "GNPTAB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:36.447777+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNPAT was added\ngene: GNPAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNPAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNPAT were set to Chondrodysplasia punctata, rhizomelic, type 2, 222765 (3)",
"entity_name": "GNPAT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:35.647210+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNE was added\ngene: GNE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNE were set to Inclusion body myopathy, autosomal recessive, 600737 (3)",
"entity_name": "GNE",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:35.242245+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNB5 was added\ngene: GNB5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNB5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNB5 were set to Intellectual developmental disorder with cardiac arrhythmia, 617173 (3), Autosomal recessive",
"entity_name": "GNB5",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:34.749685+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAT2 was added\ngene: GNAT2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GNAT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNAT2 were set to Achromatopsia-4, 613856 (3)",
"entity_name": "GNAT2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:34.343006+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMPPB was added\ngene: GMPPB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GMPPB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPB were set to Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3)",
"entity_name": "GMPPB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:33.927222+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GMPPA was added\ngene: GMPPA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GMPPA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GMPPA were set to Alacrima, achalasia, and mental retardation syndrome, 615510 (3)",
"entity_name": "GMPPA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:33.347111+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GM2A was added\ngene: GM2A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GM2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GM2A were set to GM2-gangliosidosis, AB variant, 272750 (3)",
"entity_name": "GM2A",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:32.949353+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLYCTK was added\ngene: GLYCTK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLYCTK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLYCTK were set to D-glyceric aciduria, 220120 (3)",
"entity_name": "GLYCTK",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:32.543504+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLIS3 was added\ngene: GLIS3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLIS3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLIS3 were set to Diabetes mellitus, neonatal, with congenital hypothyroidism, 610199 (3)",
"entity_name": "GLIS3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:31.842751+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLE1 was added\ngene: GLE1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLE1 were set to Arthrogryposis, lethal, with anterior horn cell disease, 611890 (3)",
"entity_name": "GLE1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:31.446917+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLDN was added\ngene: GLDN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLDN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDN were set to Lethal congenital contracture syndrome 11, 617194 (3), Autosomal recessive",
"entity_name": "GLDN",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:31.046989+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLDC was added\ngene: GLDC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLDC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLDC were set to Glycine encephalopathy, 605899 (3)",
"entity_name": "GLDC",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:30.646002+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GLB1 were set to Mucopolysaccharidosis type IVB (Morquio), 253010 (3)",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:30.247746+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease, 301500 (3)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:29.831274+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GK was added\ngene: GK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GK were set to Glycerol kinase deficiency, 307030 (3)",
"entity_name": "GK",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:29.439243+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, 608804 (3)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:29.045775+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJA1 was added\ngene: GJA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GJA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GJA1 were set to Hypoplastic left heart syndrome 1, 241550 (3)",
"entity_name": "GJA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:28.637688+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GHR was added\ngene: GHR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GHR were set to Laron dwarfism, 262500 (3)",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:27.949652+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFPT1 was added\ngene: GFPT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GFPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFPT1 were set to Myasthenia, congenital, 12, with tubular aggregates, 610542 (3)",
"entity_name": "GFPT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:27.544021+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GFM1 was added\ngene: GFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GFM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GFM1 were set to Combined oxidative phosphorylation deficiency 1, 609060 (3)",
"entity_name": "GFM1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:27.136189+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDI1 was added\ngene: GDI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GDI1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GDI1 were set to Mental retardation, X-linked 41, 300849 (3)",
"entity_name": "GDI1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:26.752584+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF5 was added\ngene: GDF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GDF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDF5 were set to Chondrodysplasia, Grebe type, 200700 (3)",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:26.342296+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDF1 was added\ngene: GDF1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GDF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDF1 were set to Right atrial isomerism, 208530 (3)",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:55:25.945304+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GDAP1 was added\ngene: GDAP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: GDAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GDAP1 were set to Charcot-Marie-Tooth disease, recessive intermediate, A, 608340 (3)",
"entity_name": "GDAP1",
"entity_type": "gene"
}
]
}