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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1848",
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{
"created": "2020-04-19T20:53:29.131116+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: AP4S1 was added\ngene: AP4S1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP4S1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4S1 were set to Spastic paraplegia 52, autosomal recessive, 614067 (3)",
"entity_name": "AP4S1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.959807+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: AP4M1 was added\ngene: AP4M1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP4M1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4M1 were set to Spastic paraplegia 50, autosomal recessive, 612936 (3)",
"entity_name": "AP4M1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.844661+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: AP4B1 was added\ngene: AP4B1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, 614066 (3)",
"entity_name": "AP4B1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.721395+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: AP3B2 was added\ngene: AP3B2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AP3B2 were set to Epileptic encephalopathy, early infantile, 48, 617276 (3), Autosomal recessive",
"entity_name": "AP3B2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.555681+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: AP1S2 was added\ngene: AP1S2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AP1S2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AP1S2 were set to Mental retardation, X-linked syndromic 5, 304340 (3)",
"entity_name": "AP1S2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.436407+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: ANTXR2 was added\ngene: ANTXR2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ANTXR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR2 were set to Hyaline fibromatosis syndrome, 228600 (3)",
"entity_name": "ANTXR2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.265904+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: ANTXR1 was added\ngene: ANTXR1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ANTXR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANTXR1 were set to GAPO syndrome, 230740 (3)",
"entity_name": "ANTXR1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.148984+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: ANKS6 was added\ngene: ANKS6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ANKS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ANKS6 were set to Nephronophthisis 16, 615382 (3)",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:28.027388+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: AMT was added\ngene: AMT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMT were set to Glycine encephalopathy, 605899 (3)",
"entity_name": "AMT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:27.859665+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: AMPD2 was added\ngene: AMPD2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AMPD2 were set to Pontocerebellar hypoplasia, type 9, 615809 (3)",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:27.740086+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: ALS2 was added\ngene: ALS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALS2 were set to Primary lateral sclerosis, juvenile, 606353 (3)",
"entity_name": "ALS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:27.566591+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: ALPL was added\ngene: ALPL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALPL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALPL were set to Hypophosphatasia, infantile, 241500 (3)",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:27.451661+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: ALOXE3 was added\ngene: ALOXE3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALOXE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOXE3 were set to Ichthyosis, congenital, autosomal recessive 3, 606545 (3)",
"entity_name": "ALOXE3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:27.331448+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: ALOX12B was added\ngene: ALOX12B was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALOX12B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALOX12B were set to Ichthyosis, congenital, autosomal recessive 2, 242100 (3)",
"entity_name": "ALOX12B",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:27.161511+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: ALMS1 was added\ngene: ALMS1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALMS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALMS1 were set to Alstrom syndrome, 203800 (3)",
"entity_name": "ALMS1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:27.048066+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: ALG9 was added\ngene: ALG9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG9 were set to Congenital disorder of glycosylation, type Il, 608776 (3)",
"entity_name": "ALG9",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:26.927190+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: ALG8 was added\ngene: ALG8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, 608104 (3)",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:26.761197+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: ALG6 was added\ngene: ALG6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG6 were set to Congenital disorder of glycosylation, type Ic, 603147 (3)",
"entity_name": "ALG6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:26.645080+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: ALG3 was added\ngene: ALG3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG3 were set to Congenital disorder of glycosylation, type Id, 601110 (3)",
"entity_name": "ALG3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:26.525579+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: ALG2 was added\ngene: ALG2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG2 were set to Myasthenic syndrome, congenital, 14, with tubular aggregates, 616228 (3)",
"entity_name": "ALG2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:26.357901+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: ALG12 was added\ngene: ALG12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG12 were set to Congenital disorder of glycosylation, type Ig, 607143 (3)",
"entity_name": "ALG12",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:26.249575+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: ALG11 was added\ngene: ALG11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG11 were set to Congenital disorder of glycosylation, type Ip, 613661 (3)",
"entity_name": "ALG11",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:26.124107+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: ALG1 was added\ngene: ALG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALG1 were set to Congenital disorder of glycosylation, type Ik, 608540 (3)",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.957350+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: ALDOB was added\ngene: ALDOB was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDOB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDOB were set to Fructose intolerance, 229600 (3)",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.841964+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: ALDH7A1 was added\ngene: ALDH7A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH7A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH7A1 were set to Epilepsy, pyridoxine-dependent, 266100 (3)",
"entity_name": "ALDH7A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.725286+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: ALDH5A1 was added\ngene: ALDH5A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH5A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH5A1 were set to Succinic semialdehyde dehydrogenase deficiency, 271980 (3)",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.558915+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: ALDH3A2 was added\ngene: ALDH3A2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH3A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH3A2 were set to Sjogren-Larsson syndrome, 270200 (3)",
"entity_name": "ALDH3A2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.431046+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: ALDH1A3 was added\ngene: ALDH1A3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH1A3 were set to Microphthalmia, isolated 8, 615113 (3)",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.265494+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: ALDH18A1 was added\ngene: ALDH18A1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALDH18A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALDH18A1 were set to Spastic paraplegia 9B, autosomal recessive, 616586 (3)",
"entity_name": "ALDH18A1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.152009+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: ALAD was added\ngene: ALAD was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ALAD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ALAD were set to Porphyria, acute hepatic, 612740 (3)",
"entity_name": "ALAD",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:25.040175+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: AKR1D1 was added\ngene: AKR1D1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AKR1D1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AKR1D1 were set to Bile acid synthesis defect, congenital, 2, 235555 (3)",
"entity_name": "AKR1D1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:24.921436+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: AK2 was added\ngene: AK2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AK2 were set to Reticular dysgenesis, 267500 (3)",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:24.761878+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: AIPL1 was added\ngene: AIPL1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AIPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIPL1 were set to Cone-rod dystrophy, 604393 (3)",
"entity_name": "AIPL1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:24.644764+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: AIMP1 was added\ngene: AIMP1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AIMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AIMP1 were set to Leukodystrophy, hypomyelinating, 3, 260600 (3)",
"entity_name": "AIMP1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:24.531704+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: AIFM1 was added\ngene: AIFM1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AIFM1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: AIFM1 were set to Cowchock syndrome, 310490 (3)",
"entity_name": "AIFM1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:24.355945+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: AHI1 was added\ngene: AHI1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AHI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AHI1 were set to Joubert syndrome-3, 608629 (3)",
"entity_name": "AHI1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:24.243448+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: AGXT was added\ngene: AGXT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGXT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGXT were set to Hyperoxaluria, primary, type 1, 259900 (3)",
"entity_name": "AGXT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:24.127607+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: AGT was added\ngene: AGT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGT were set to Renal tubular dysgenesis, 267430 (3)",
"entity_name": "AGT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.966236+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: AGRN was added\ngene: AGRN was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGRN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGRN were set to Myasthenic syndrome, congenital, 8, with pre- and postsynaptic defects, 615120 (3)",
"entity_name": "AGRN",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.853289+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: AGPS was added\ngene: AGPS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGPS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGPS were set to Chondrodysplasia punctata, rhizomelic, type 3, 600121 (3)",
"entity_name": "AGPS",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.742959+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: AGL was added\ngene: AGL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGL were set to Glycogen storage disease IIIa, 232400 (3)",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.626555+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: AGK was added\ngene: AGK was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGK was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGK were set to Sengers syndrome, 212350 (3)",
"entity_name": "AGK",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.466012+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: AGBL5 was added\ngene: AGBL5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGBL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGBL5 were set to Retinitis pigmentosa 75, 617023 (3), Autosomal recessive",
"entity_name": "AGBL5",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.356095+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: AGA was added\ngene: AGA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AGA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AGA were set to Aspartylglucosaminuria, 208400 (3)",
"entity_name": "AGA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.246735+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: ADSL was added\ngene: ADSL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADSL were set to Adenylosuccinase deficiency, 103050 (3)",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.134892+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: ADGRV1 was added\ngene: ADGRV1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADGRV1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRV1 were set to Usher syndrome, type 2C, 605472 (3)",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:23.021456+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: ADGRG1 was added\ngene: ADGRG1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADGRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADGRG1 were set to Polymicrogyria, bilateral frontoparietal, 606854 (3)",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.861791+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: ADAT3 was added\ngene: ADAT3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAT3 were set to Mental retardation, autosomal recessive 36, 615286 (3)",
"entity_name": "ADAT3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.756410+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: ADAR was added\ngene: ADAR was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAR were set to Aicardi-Goutieres syndrome 6, 615010 (3)",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.643706+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: ADAMTSL2 was added\ngene: ADAMTSL2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAMTSL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTSL2 were set to Geleophysic dysplasia 1, 231050 (3)",
"entity_name": "ADAMTSL2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.529548+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: ADAMTS2 was added\ngene: ADAMTS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAMTS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS2 were set to Ehlers-Danlos syndrome, type VIIC, 225410 (3)",
"entity_name": "ADAMTS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.368369+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: ADAMTS13 was added\ngene: ADAMTS13 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADAMTS13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADAMTS13 were set to Thrombotic thrombocytopenic purpura, familial, 274150 (3)",
"entity_name": "ADAMTS13",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.262498+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: ADA2 was added\ngene: ADA2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA2 were set to Polyarteritis nodosa, childhood-onset, 615688 (3)",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.149280+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: ADA was added\ngene: ADA was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA were set to Adenosine deaminase deficiency, partial, 102700 (3)",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:22.038852+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: ACTA1 was added\ngene: ACTA1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACTA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACTA1 were set to Myopathy, congenital, with fiber-type disproportion 1, 255310 (3)",
"entity_name": "ACTA1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.926005+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: ACSF3 was added\ngene: ACSF3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACSF3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACSF3 were set to Combined malonic and methylmalonic aciduria, 614265 (3)",
"entity_name": "ACSF3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.766965+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: ACOX1 was added\ngene: ACOX1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACOX1 were set to Peroxisomal acyl-CoA oxidase deficiency, 264470 (3)",
"entity_name": "ACOX1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.662434+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: ACO2 was added\ngene: ACO2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACO2 were set to Infantile cerebellar-retinal degeneration, 614559 (3)",
"entity_name": "ACO2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.555117+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: ACE was added\ngene: ACE was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACE were set to Renal tubular dysgenesis, 267430 (3)",
"entity_name": "ACE",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.444202+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: ACAT1 was added\ngene: ACAT1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAT1 were set to Alpha-methylacetoacetic aciduria, 203750 (3)",
"entity_name": "ACAT1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.335414+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: ACADVL was added\ngene: ACADVL was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACADVL was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACADVL were set to VLCAD deficiency, 201475 (3)",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.228478+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: ACAD9 was added\ngene: ACAD9 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to Mitochondrial complex I deficiency due to ACAD9 deficiency, 611126 (3)",
"entity_name": "ACAD9",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:21.055282+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: ABHD5 was added\ngene: ABHD5 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABHD5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABHD5 were set to Chanarin-Dorfman syndrome, 275630 (3)",
"entity_name": "ABHD5",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.947594+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: ABCD1 was added\ngene: ABCD1 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCD1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCD1 were set to Adrenoleukodystrophy, 300100 (3)",
"entity_name": "ABCD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.836867+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: ABCC8 was added\ngene: ABCC8 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCC8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC8 were set to Hyperinsulinemic hypoglycemia, familial, 1, 256450 (3)",
"entity_name": "ABCC8",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.725745+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: ABCC6 was added\ngene: ABCC6 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCC6 were set to Arterial calcification, generalized, of infancy, 2, 614473 (3)",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.569357+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: ABCB7 was added\ngene: ABCB7 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCB7 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: ABCB7 were set to Anemia, sideroblastic, with ataxia, 301310 (3)",
"entity_name": "ABCB7",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.459938+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: ABCB4 was added\ngene: ABCB4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCB4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB4 were set to Cholestasis, progressive familial intrahepatic 3, 602347 (3)",
"entity_name": "ABCB4",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.355664+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: ABCB11 was added\ngene: ABCB11 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCB11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCB11 were set to Cholestasis, progressive familial intrahepatic 2, 601847 (3)",
"entity_name": "ABCB11",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.248160+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: ABCA4 was added\ngene: ABCA4 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCA4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA4 were set to Cone-rod dystrophy 3, 604116 (3)",
"entity_name": "ABCA4",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.140519+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: ABCA3 was added\ngene: ABCA3 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA3 were set to Surfactant metabolism dysfunction, pulmonary, 3, 610921 (3)",
"entity_name": "ABCA3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:20.032647+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: ABCA12 was added\ngene: ABCA12 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABCA12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABCA12 were set to Ichthyosis, congenital, autosomal recessive 4A, 601277 (3)",
"entity_name": "ABCA12",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:19.921767+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: ABAT was added\ngene: ABAT was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ABAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ABAT were set to GABA-transaminase deficiency, 613163 (3)",
"entity_name": "ABAT",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:19.769761+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: AARS2 was added\ngene: AARS2 was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AARS2 were set to Combined oxidative phosphorylation deficiency 8, 614096 (3)",
"entity_name": "AARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:19.669996+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: AAAS was added\ngene: AAAS was added to Mackenzie's Mission_Reproductive Carrier Screening. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)",
"entity_name": "AAAS",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:53:19.630675+10:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Mackenzie's Mission_Reproductive Carrier Screening",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-04-19T20:52:41.405946+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) MIM#607483; Mode of inheritance: None",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:42:03.806689+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: IFRD1: Rating: RED; Mode of pathogenicity: None; Publications: 29362493; Phenotypes: Hereditary spastic paraplegia, peripheral neuropathy, ataxia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFRD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:37:56.095966+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: IFIH1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25243380, 31427910, 24686847, 24995871; Phenotypes: Aicardi-Goutieres syndrome 7 MIM#615846; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:31:16.491777+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IBA57 as ready",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:31:16.479178+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Green List (High Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:31:13.152826+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IBA57 as Green List (high evidence)",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:31:13.144193+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.73",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: iba57 has been classified as Green List (High Evidence).",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:31:03.491394+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.72",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IBA57 was added\ngene: IBA57 was added to Hereditary Spastic Paraplegia - paediatric. Sources: Expert list\nMode of inheritance for gene: IBA57 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IBA57 were set to 25609768; 30258207\nPhenotypes for gene: IBA57 were set to Spastic paraplegia 74, autosomal recessive MIM#616451\nReview for gene: IBA57 was set to GREEN\nAdded comment: Three families with spastic paraparesis as a feature of the condition. \nSources: Expert list",
"entity_name": "IBA57",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:22:20.843412+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HARS2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Perrault syndrome 2 MIM#614926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HARS2",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:19:46.203049+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: HACE1: Rating: GREEN; Mode of pathogenicity: None; Publications: 26424145, 26437029; Phenotypes: Spastic paraplegia and psychomotor retardation with or without seizures MIM#616756; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HACE1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:17:31.043719+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GCH1 as ready",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:17:31.031224+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:17:26.578524+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.71",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: GCH1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:17:17.545156+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GCH1 as Amber List (moderate evidence)",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:17:17.533100+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.70",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GCH1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:16:18.530361+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: GAD1 as ready",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:16:18.521316+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:16:09.790714+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: GAD1 as Red List (low evidence)",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:16:09.782096+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.69",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: gad1 has been classified as Red List (Low Evidence).",
"entity_name": "GAD1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:09:09.540871+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXG1 as ready",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:09:09.528439+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:09:06.121808+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXG1 as Red List (low evidence)",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:09:06.107351+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.68",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxg1 has been classified as Red List (Low Evidence).",
"entity_name": "FOXG1",
"entity_type": "gene"
},
{
"created": "2020-04-19T20:08:54.558877+10:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "0.67",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FOXG1: Rating: RED; Mode of pathogenicity: None; Publications: 19578037; Phenotypes: Rett syndrome, congenital variant MIM#613454; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FOXG1",
"entity_type": "gene"
}
]
}