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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1840",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1838",
"results": [
{
"created": "2020-04-19T20:59:34.427413+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: PEX7 was added\ngene: PEX7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX7 were set to Chondrodysplasia punctata, rhizomelic, type 1, 215100 (3)",
"entity_name": "PEX7",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:33.331086+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: PEX6 was added\ngene: PEX6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger), 614862",
"entity_name": "PEX6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:32.652062+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: PEX5 was added\ngene: PEX5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX5 were set to Peroxisome biogenesis disorder 2A (Zellweger), 214110",
"entity_name": "PEX5",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:31.948145+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: PEX3 was added\ngene: PEX3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX3 were set to Peroxisome biogenesis disorder 10A (Zellweger), 614882",
"entity_name": "PEX3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:31.024320+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: PEX26 was added\ngene: PEX26 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX26 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX26 were set to Peroxisome biogenesis disorder 7A (Zellweger), 614872",
"entity_name": "PEX26",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:30.343864+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: PEX2 was added\ngene: PEX2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX2 were set to Peroxisome biogenesis disorder 5A (Zellweger), 614866",
"entity_name": "PEX2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:29.627642+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: PEX16 was added\ngene: PEX16 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX16 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX16 were set to Peroxisome biogenesis disorder 8A, (Zellweger), 614876",
"entity_name": "PEX16",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:28.860732+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: PEX13 was added\ngene: PEX13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX13 were set to Peroxisome biogenesis disorder 11A (Zellweger), 614883",
"entity_name": "PEX13",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:27.948079+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: PEX12 was added\ngene: PEX12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX12 were set to Peroxisome biogenesis disorder 3A (Zellweger), 614859",
"entity_name": "PEX12",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:27.250308+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: PEX11B was added\ngene: PEX11B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX11B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX11B were set to Peroxisome biogenesis disorder 14B, 614920 (3)",
"entity_name": "PEX11B",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:26.551694+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: PEX10 was added\ngene: PEX10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX10 were set to Peroxisome biogenesis disorder 6A (Zellweger), 614870",
"entity_name": "PEX10",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:25.645075+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: PEX1 was added\ngene: PEX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEX1 were set to Peroxisome biogenesis disorder 1A (Zellweger), 214100",
"entity_name": "PEX1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:24.933429+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: PET100 was added\ngene: PET100 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PET100 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PET100 were set to Mitochondrial complex IV deficiency, 220110 (3)",
"entity_name": "PET100",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:24.221354+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: PEPD was added\ngene: PEPD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PEPD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PEPD were set to Prolidase deficiency, 170100 (3)",
"entity_name": "PEPD",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:23.519848+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: PDP1 was added\ngene: PDP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDP1 were set to Pyruvate dehydrogenase phosphatase deficiency, 608782 (3)",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:22.444077+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: PDHB was added\ngene: PDHB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDHB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDHB were set to Pyruvate dehydrogenase E1-beta deficiency, 614111 (3)",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:21.732919+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: PDHA1 was added\ngene: PDHA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDHA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PDHA1 were set to Pyruvate dehydrogenase E1-alpha deficiency",
"entity_name": "PDHA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:21.042720+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: PDE6C was added\ngene: PDE6C was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDE6C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6C were set to Cone dystrophy 4, 613093 (3)",
"entity_name": "PDE6C",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:20.050863+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: PDE6B was added\ngene: PDE6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PDE6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PDE6B were set to Retinitis pigmentosa-40, 613801 (3)",
"entity_name": "PDE6B",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:19.425279+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: PCYT1A was added\ngene: PCYT1A was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCYT1A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCYT1A were set to Spondylometaphyseal dysplasia with cone-rod dystrophy, 608940 (3)",
"entity_name": "PCYT1A",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:18.759614+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: PCSK1 was added\ngene: PCSK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCSK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCSK1 were set to Obesity with impaired prohormone processing, 600955 (3)",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:17.853346+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: PCNT was added\ngene: PCNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCNT were set to Microcephalic osteodysplastic primordial dwarfism, type II, 210720 (3)",
"entity_name": "PCNT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:17.160892+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: PCDH15 was added\ngene: PCDH15 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCDH15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH15 were set to Usher syndrome, type 1F, 602083 (3)",
"entity_name": "PCDH15",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:16.547913+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: PCDH12 was added\ngene: PCDH12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCDH12 were set to Microcephaly, seizures, spasticity, and brain calcification, 251280 (3), Autosomal recessive",
"entity_name": "PCDH12",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:15.851505+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: PCCB was added\ngene: PCCB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCB were set to Propionicacidemia, 606054 (3)",
"entity_name": "PCCB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:14.949030+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: PCCA was added\ngene: PCCA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PCCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PCCA were set to Propionicacidemia, 606054 (3)",
"entity_name": "PCCA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:14.349737+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: PC was added\ngene: PC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PC were set to Pyruvate carboxylase deficiency, 266150 (3)",
"entity_name": "PC",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:13.735122+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: PAPSS2 was added\ngene: PAPSS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAPSS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAPSS2 were set to Brachyolmia 4 with mild epiphyseal and metaphyseal changes, 612847 (3)",
"entity_name": "PAPSS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:12.744395+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: PANK2 was added\ngene: PANK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PANK2 were set to Neurodegeneration with brain iron accumulation 1, 234200 (3)",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:12.042797+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: PAK3 was added\ngene: PAK3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAK3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PAK3 were set to Mental retardation, X-linked 30/47, 300558 (3)",
"entity_name": "PAK3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:11.358514+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: PAH was added\ngene: PAH was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PAH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PAH were set to Phenylketonuria, 261600 (3)",
"entity_name": "PAH",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:10.737078+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: P3H1 was added\ngene: P3H1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: P3H1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: P3H1 were set to Osteogenesis imperfecta, type VIII, 610915 (3)",
"entity_name": "P3H1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:09.850726+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: OTUD6B was added\ngene: OTUD6B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OTUD6B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OTUD6B were set to Intellectual developmental disorder with dysmorphic facies, seizures, and distal limb anomalies, 617452 (3), Autosomal recessive",
"entity_name": "OTUD6B",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:09.138193+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: OTC was added\ngene: OTC was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to Ornithine transcarbamylase deficiency, 311250 (3)",
"entity_name": "OTC",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:08.433864+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: OSTM1 was added\ngene: OSTM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OSTM1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSTM1 were set to Osteopetrosis, autosomal recessive 5, 259720 (3)",
"entity_name": "OSTM1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:07.663635+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: OSGEP was added\ngene: OSGEP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OSGEP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OSGEP were set to Galloway-Mowat syndrome 3, 617729 (3), Autosomal recessive",
"entity_name": "OSGEP",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:06.753869+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: ORC6 was added\ngene: ORC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ORC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC6 were set to Meier-Gorlin syndrome 3, 613803 (3)",
"entity_name": "ORC6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:06.142569+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: ORC1 was added\ngene: ORC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORC1 were set to Meier-Gorlin syndrome 1, 224690 (3)",
"entity_name": "ORC1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:05.448434+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: ORAI1 was added\ngene: ORAI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ORAI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ORAI1 were set to Immunodeficiency 9, 612782 (3)",
"entity_name": "ORAI1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:04.527446+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: OPN1LW was added\ngene: OPN1LW was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPN1LW was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OPN1LW were set to Blue cone monochromacy, 303700 (3)",
"entity_name": "OPN1LW",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:03.842451+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: OPHN1 was added\ngene: OPHN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPHN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OPHN1 were set to Mental retardation, X-linked, with cerebellar hypoplasia and distinctive facial appearance, 300486 (3)",
"entity_name": "OPHN1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:03.134597+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: OPA3 was added\ngene: OPA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA3 were set to 3-methylglutaconic aciduria, type III, 258501 (3)",
"entity_name": "OPA3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:02.421697+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: OPA1 was added\ngene: OPA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OPA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OPA1 were set to Behr syndrome, 210000 (3), Autosomal recessive",
"entity_name": "OPA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:01.432480+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: OFD1 was added\ngene: OFD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OFD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OFD1 were set to Joubert syndrome 10, 300804 (3)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:00.738646+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: OCRL was added\ngene: OCRL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OCRL were set to Lowe syndrome, 309000 (3)",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:59:00.041838+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: OCLN was added\ngene: OCLN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OCLN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCLN were set to Band-like calcification with simplified gyration and polymicrogyria, 251290 (3)",
"entity_name": "OCLN",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:59.348095+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: OCA2 was added\ngene: OCA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OCA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OCA2 were set to Albinism, brown oculocutaneous, 203200 (3)",
"entity_name": "OCA2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:58.448412+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: OBSL1 was added\ngene: OBSL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: OBSL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: OBSL1 were set to 3-M syndrome 2, 612921 (3)",
"entity_name": "OBSL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:57.725924+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: NYX was added\ngene: NYX was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NYX was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NYX were set to Night blindness, congenital stationary (complete), 1A, X-linked, 310500 (3)",
"entity_name": "NYX",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:57.040640+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: NUP93 was added\ngene: NUP93 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUP93 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP93 were set to Nephrotic syndrome, type 12, 616892 (3), Autosomal recessive",
"entity_name": "NUP93",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:56.053301+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: NUP62 was added\ngene: NUP62 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUP62 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP62 were set to Striatonigral degeneration, infantile, 271930 (3)",
"entity_name": "NUP62",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:55.450965+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: NUP107 was added\ngene: NUP107 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUP107 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUP107 were set to Nephrotic syndrome, type 11, 616730 (3), Autosomal recessive",
"entity_name": "NUP107",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:54.760395+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: NUBPL was added\ngene: NUBPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NUBPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NUBPL were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NUBPL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:54.140220+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: NTRK1 was added\ngene: NTRK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NTRK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NTRK1 were set to Insensitivity to pain, congenital, with anhidrosis, 256800 (3)",
"entity_name": "NTRK1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:53.244225+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: NT5C2 was added\ngene: NT5C2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NT5C2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NT5C2 were set to Spastic paraplegia 45, 613162 (3)",
"entity_name": "NT5C2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:52.551656+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: NSUN2 was added\ngene: NSUN2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NSUN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NSUN2 were set to Mental retardation, autosomal recessive 5, 611091 (3)",
"entity_name": "NSUN2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:51.950437+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: NSDHL was added\ngene: NSDHL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NSDHL was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NSDHL were set to CK syndrome, 300831 (3)",
"entity_name": "NSDHL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:51.050951+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: NR0B1 was added\ngene: NR0B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NR0B1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NR0B1 were set to 46XY sex reversal 2, dosage-sensitive, 300018 (3)",
"entity_name": "NR0B1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:50.429460+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: NPR2 was added\ngene: NPR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPR2 were set to Acromesomelic dysplasia, Maroteaux type, 602875 (3)",
"entity_name": "NPR2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:49.744594+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: NPHS2 was added\ngene: NPHS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS2 were set to Nephrotic syndrome, type 2, 600995 (3)",
"entity_name": "NPHS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:49.059841+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: NPHS1 was added\ngene: NPHS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHS1 were set to Nephrotic syndrome, type 1, 256300 (3)",
"entity_name": "NPHS1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:48.152218+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: NPHP4 was added\ngene: NPHP4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP4 were set to Senior-Loken syndrome 4, 606996 (3)",
"entity_name": "NPHP4",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:47.436945+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: NPHP3 was added\ngene: NPHP3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Meckel syndrome 7, 267010 (3)",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:46.739987+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: NPHP1 was added\ngene: NPHP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPHP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP1 were set to Joubert syndrome 4, 609583 (3)",
"entity_name": "NPHP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:46.061062+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: NPC2 was added\ngene: NPC2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC2 were set to Niemann-pick disease, type C2, 607625 (3)",
"entity_name": "NPC2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:45.152264+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: NPC1 was added\ngene: NPC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NPC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPC1 were set to Niemann-Pick disease, type C1, 257220 (3)",
"entity_name": "NPC1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:44.551463+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: NNT was added\ngene: NNT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NNT were set to Glucocorticoid deficiency 4, 614736 (3)",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:43.950697+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: NMNAT1 was added\ngene: NMNAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NMNAT1 were set to Leber congenital amaurosis 9, 608553 (3)",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:43.344000+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: NLGN4X was added\ngene: NLGN4X was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NLGN4X was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NLGN4X were set to Mental retardation, X-linked, 300495 (3)",
"entity_name": "NLGN4X",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:42.437439+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: NKX6-2 was added\ngene: NKX6-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NKX6-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX6-2 were set to Spastic ataxia 8, autosomal recessive, with hypomyelinating leukodystrophy, 617560 (3)",
"entity_name": "NKX6-2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:41.751236+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: NKX3-2 was added\ngene: NKX3-2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NKX3-2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NKX3-2 were set to Spondylo-megaepiphyseal-metaphyseal dysplasia, 613330 (3), Autosomal recessive",
"entity_name": "NKX3-2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:41.148704+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: NIPAL4 was added\ngene: NIPAL4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NIPAL4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NIPAL4 were set to Ichthyosis, congenital, autosomal recessive 6, 612281 (3)",
"entity_name": "NIPAL4",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:40.251109+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: NHS was added\ngene: NHS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NHS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NHS were set to Cataract 40, X-linked, 302200 (3)",
"entity_name": "NHS",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:39.551042+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: NHLRC1 was added\ngene: NHLRC1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NHLRC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHLRC1 were set to Epilepsy, progressive myoclonic 2B (Lafora), 254780 (3)",
"entity_name": "NHLRC1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:38.951560+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: NHEJ1 was added\ngene: NHEJ1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NHEJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NHEJ1 were set to Severe combined immunodeficiency with microcephaly, growth retardation, and sensitivity to ionizing radiation, 611291 (3)",
"entity_name": "NHEJ1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:38.363820+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: NGLY1 was added\ngene: NGLY1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NGLY1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGLY1 were set to Congenital disorder of deglycosylation, 615273 (3)",
"entity_name": "NGLY1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:37.449870+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: NGF was added\ngene: NGF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NGF was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NGF were set to Neuropathy, hereditary sensory and autonomic, type V, 608654 (3)",
"entity_name": "NGF",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:36.859130+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: NFU1 was added\ngene: NFU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NFU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NFU1 were set to Multiple mitochondrial dysfunctions syndrome 1, 605711 (3)",
"entity_name": "NFU1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:36.153137+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: NEXMIF was added\ngene: NEXMIF was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEXMIF was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NEXMIF were set to Mental retardation, X-linked 98, 300912 (3)",
"entity_name": "NEXMIF",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:35.538588+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: NEU1 was added\ngene: NEU1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEU1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEU1 were set to Sialidosis, type I, 256550 (3)",
"entity_name": "NEU1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:34.627837+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: NEK8 was added\ngene: NEK8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEK8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK8 were set to Renal-hepatic-pancreatic dysplasia 2, 615415 (3), Autosomal recessive",
"entity_name": "NEK8",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:33.943871+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: NEK1 was added\ngene: NEK1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEK1 were set to Short-rib thoracic dysplasia 6 with or without polydactyly, 263520 (3)",
"entity_name": "NEK1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:33.233060+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: NECTIN1 was added\ngene: NECTIN1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NECTIN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NECTIN1 were set to Cleft lip/palate-ectodermal dysplasia syndrome, 225060 (3)",
"entity_name": "NECTIN1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:32.539508+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: NEB was added\ngene: NEB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NEB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NEB were set to Nemaline myopathy 2, autosomal recessive, 256030 (3)",
"entity_name": "NEB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:31.645295+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: NDUFV2 was added\ngene: NDUFV2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV2 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFV2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:31.026347+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: NDUFV1 was added\ngene: NDUFV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFV1 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFV1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:30.362126+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: NDUFS8 was added\ngene: NDUFS8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS8 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)",
"entity_name": "NDUFS8",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:29.738841+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: NDUFS7 was added\ngene: NDUFS7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS7 were set to Leigh syndrome, 256000 (3)",
"entity_name": "NDUFS7",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:28.750888+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: NDUFS6 was added\ngene: NDUFS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS6 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFS6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:28.150922+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: NDUFS4 was added\ngene: NDUFS4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS4 were set to Leigh syndrome, 256000 (3)",
"entity_name": "NDUFS4",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:27.547176+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: NDUFS2 was added\ngene: NDUFS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS2 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:26.939036+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: NDUFS1 was added\ngene: NDUFS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFS1 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFS1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:25.952572+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: NDUFAF6 was added\ngene: NDUFAF6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF6 were set to Leigh syndrome due to mitochondrial complex I deficiency, 256000 (3)",
"entity_name": "NDUFAF6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:25.351781+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: NDUFAF5 was added\ngene: NDUFAF5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF5 were set to Mitochondrial complex 1 deficiency, 252010 (3)",
"entity_name": "NDUFAF5",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:24.731884+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: NDUFAF2 was added\ngene: NDUFAF2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFAF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFAF2 were set to Leigh syndrome, 256000 (3)",
"entity_name": "NDUFAF2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:24.052262+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: NDUFA11 was added\ngene: NDUFA11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFA11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA11 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFA11",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:23.162144+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: NDUFA10 was added\ngene: NDUFA10 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFA10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDUFA10 were set to Leigh syndrome, 256000 (3), Autosomal recessive, Mitochondrial",
"entity_name": "NDUFA10",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:22.548806+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: NDUFA1 was added\ngene: NDUFA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDUFA1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDUFA1 were set to Mitochondrial complex I deficiency, 252010 (3)",
"entity_name": "NDUFA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:21.865725+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: NDRG1 was added\ngene: NDRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NDRG1 were set to Charcot-Marie-Tooth disease, type 4D, 601455 (3)",
"entity_name": "NDRG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:58:21.257558+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: NDP was added\ngene: NDP was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: NDP was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: NDP were set to Norrie disease, 310600 (3)",
"entity_name": "NDP",
"entity_type": "gene"
}
]
}