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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=520",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=518",
"results": [
{
"created": "2023-11-03T16:09:12.189377+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TCTN2 was added\ngene: TCTN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCTN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCTN2 were set to Joubert syndrome 24",
"entity_name": "TCTN2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:11.697607+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TCN2 was added\ngene: TCN2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCN2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCN2 were set to Transcobalamin II deficiency, 275350 (3)",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:11.412842+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TCIRG1 was added\ngene: TCIRG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TCIRG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TCIRG1 were set to Osteopetrosis, autosomal recessive 1, 259700 (3)",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:11.103292+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCE were set to Kenny-Caffey syndrome-1, 244460 (3)",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:10.860870+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TBCD was added\ngene: TBCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBCD were set to Encephalopathy, progressive, early-onset, with brain atrophy and thin corpus callosum, 617193 (3), Autosomal recessive",
"entity_name": "TBCD",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:10.572111+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TBC1D24 was added\ngene: TBC1D24 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBC1D24 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D24 were set to Epileptic encephalopathy, early infantile, 16, 615338 (3)",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:09.988488+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TBC1D23 was added\ngene: TBC1D23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TBC1D23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TBC1D23 were set to Pontocerebellar hypoplasia, type 11, 617695 (3), Autosomal recessive",
"entity_name": "TBC1D23",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:09.669630+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TAZ was added\ngene: TAZ was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TAZ was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: TAZ were set to Barth syndrome, 302060 (3)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:09.325029+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TAT was added\ngene: TAT was added to Prepair 500+. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TAT were set to 16574453\nPhenotypes for gene: TAT were set to Tyrosinemia, type II\t(MIM#276600)",
"entity_name": "TAT",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:08.987324+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TANGO2 was added\ngene: TANGO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: TANGO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TANGO2 were set to Metabolic encephalomyopathic crises, recurrent, with rhabdomyolysis, cardiac arrhythmias, and neurodegeneration",
"entity_name": "TANGO2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:08.694825+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SYN1 was added\ngene: SYN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYN1 were set to Epilepsy, X-linked, with variable learning disabilities and behavior disorders, 300491 (3)",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:08.391772+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SURF1 was added\ngene: SURF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SURF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SURF1 were set to Leigh syndrome, due to COX deficiency, 256000 (3)",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:08.085612+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SUOX was added\ngene: SUOX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency, 272300 (3)",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:07.594481+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SUMF1 was added\ngene: SUMF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SUMF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SUMF1 were set to Multiple sulfatase deficiency, 272200 (3)",
"entity_name": "SUMF1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:07.280934+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: STXBP2 was added\ngene: STXBP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STXBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STXBP2 were set to Hemophagocytic lymphohistiocytosis, familial, 5, 613101 (3)",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:06.995238+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: STX11 was added\ngene: STX11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STX11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STX11 were set to Hemophagocytic lymphohistiocytosis, familial, 4, 603552 (3)",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:06.664275+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: STAR was added\ngene: STAR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: STAR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAR were set to Lipoid adrenal hyperplasia, 201710 (3)",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:06.377457+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ST3GAL5 was added\ngene: ST3GAL5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL5 were set to Salt and pepper developmental regression syndrome, 609056 (3), Autosomal recessive",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:06.074312+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SPR was added\ngene: SPR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPR were set to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency, 612716 (3)",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:05.583741+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SPINK5 was added\ngene: SPINK5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPINK5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPINK5 were set to Netherton syndrome, 256500 (3)",
"entity_name": "SPINK5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:05.311412+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SPG11 was added\ngene: SPG11 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPG11 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPG11 were set to 33581793\nPhenotypes for gene: SPG11 were set to Spastic paraplegia 11, autosomal recessive, MIM# 604360",
"entity_name": "SPG11",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:04.990305+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SPATA5 was added\ngene: SPATA5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SPATA5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPATA5 were set to Epilepsy, hearing loss, and mental retardation syndrome, 616577 (3), Autosomal recessive",
"entity_name": "SPATA5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:04.687826+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, 609528 (3)",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:04.373619+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SMPD1 was added\ngene: SMPD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMPD1 were set to Niemann-Pick disease, type A, 257200 (3)",
"entity_name": "SMPD1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:03.870485+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SMN1 was added\ngene: SMN1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMN1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMN1 were set to Spinal muscular atrophy-1, 253300 (3)",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:03.572623+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SMARCAL1 was added\ngene: SMARCAL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SMARCAL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMARCAL1 were set to Schimke immunoosseous dysplasia, 242900 (3)",
"entity_name": "SMARCAL1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:03.278051+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC7A7 was added\ngene: SLC7A7 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, 222700 (3)",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:02.977271+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC6A8 was added\ngene: SLC6A8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A8 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC6A8 were set to Cerebral creatine deficiency syndrome 1, 300352 (3)",
"entity_name": "SLC6A8",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:02.687936+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC6A5 was added\ngene: SLC6A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC6A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A5 were set to Hyperekplexia 3, 614618 (3)",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:02.387717+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC52A3 was added\ngene: SLC52A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A3 were set to Brown-Vialetto-Van Laere syndrome 1, 211530 (3)",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:02.088749+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-Van Laere syndrome 2, 614707 (3)",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:01.572804+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC46A1 was added\ngene: SLC46A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, 229050 (3)",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:01.201737+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC45A2 was added\ngene: SLC45A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC45A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A2 were set to Albinism, oculocutaneous, type IV, 606574 (3)",
"entity_name": "SLC45A2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:00.964432+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC39A4 was added\ngene: SLC39A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC39A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC39A4 were set to Acrodermatitis enteropathica, 201100 (3)",
"entity_name": "SLC39A4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:00.671249+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC38A8 was added\ngene: SLC38A8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC38A8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC38A8 were set to Foveal hypoplasia 2, with or without optic nerve misrouting and/or anterior segment dysgenesis, 609218 (3)",
"entity_name": "SLC38A8",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:00.383641+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC37A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC37A4 were set to Glycogen storage disease Ib, 232220 (3)",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:09:00.091870+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC35A3 was added\ngene: SLC35A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC35A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC35A3 were set to 28777481; 24031089; 28328131\nPhenotypes for gene: SLC35A3 were set to Arthrogryposis, mental retardation, and seizures (MIM615553)",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:59.559682+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC26A3 was added\ngene: SLC26A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC26A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A3 were set to Diarrhea 1, secretory chloride, congenital, 214700 (3)",
"entity_name": "SLC26A3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:59.277136+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC26A2 was added\ngene: SLC26A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC26A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC26A2 were set to Achondrogenesis Ib, 600972 (3)",
"entity_name": "SLC26A2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:58.979043+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC25A15 was added\ngene: SLC25A15 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A15 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A15 were set to Hyperornithinemia-hyperammonemia-homocitrullinemia syndrome, 238970 (3)",
"entity_name": "SLC25A15",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:58.689346+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC25A13 was added\ngene: SLC25A13 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A13 were set to Citrullinemia, type II, neonatal-onset, 605814 (3)",
"entity_name": "SLC25A13",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:58.465580+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC25A1 was added\ngene: SLC25A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC25A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A1 were set to Combined D-2- and L-2-hydroxyglutaric aciduria, 615182 (3)",
"entity_name": "SLC25A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:58.178254+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC22A5 was added\ngene: SLC22A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC22A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC22A5 were set to Carnitine deficiency, systemic primary, 212140 (3)",
"entity_name": "SLC22A5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:57.686451+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC1A4 was added\ngene: SLC1A4 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC1A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC1A4 were set to Spastic tetraplegia, thin corpus callosum, and progressive microcephaly, 616657 (3)",
"entity_name": "SLC1A4",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:57.415048+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC19A3 was added\ngene: SLC19A3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC19A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A3 were set to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2), 607483 (3)",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:57.159803+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC19A2 was added\ngene: SLC19A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC19A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC19A2 were set to Thiamine-responsive megaloblastic anemia syndrome, 249270 (3)",
"entity_name": "SLC19A2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:56.872380+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC17A5 was added\ngene: SLC17A5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC17A5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC17A5 were set to Sialic acid storage disorder, infantile, 269920 (3)",
"entity_name": "SLC17A5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:56.581577+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC16A2 was added\ngene: SLC16A2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC16A2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SLC16A2 were set to Allan-Herndon-Dudley syndrome",
"entity_name": "SLC16A2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:56.298941+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC12A6 was added\ngene: SLC12A6 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A6 were set to Agenesis of the corpus callosum with peripheral neuropathy, 218000 (3)",
"entity_name": "SLC12A6",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:56.071919+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC12A1 was added\ngene: SLC12A1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, 601678 (3)",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:55.579267+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SKIV2L was added\ngene: SKIV2L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SKIV2L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SKIV2L were set to Trichohepatoenteric syndrome 2, 614602 (3)",
"entity_name": "SKIV2L",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:55.289887+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SH3TC2 was added\ngene: SH3TC2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SH3TC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SH3TC2 were set to Charcot-Marie-Tooth disease, type 4C, 601596 (3)",
"entity_name": "SH3TC2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:55.000201+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGSH were set to Mucopolysaccharidisis type IIIA (Sanfilippo A), 252900 (3)",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:54.765960+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SGCG was added\ngene: SGCG was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Muscular dystrophy, limb-girdle, type 2C, 253700 (3)",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:54.477281+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SGCD was added\ngene: SGCD was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCD was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCD were set to Muscular dystrophy, limb-girdle, type 2F, 601287 (3)",
"entity_name": "SGCD",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:54.184116+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SGCB was added\ngene: SGCB was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCB was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCB were set to Muscular dystrophy, limb-girdle, type 2E, 604286 (3)",
"entity_name": "SGCB",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:53.693936+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SGCA was added\ngene: SGCA was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SGCA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCA were set to Muscular dystrophy, limb-girdle, type 2D, 608099 (3)",
"entity_name": "SGCA",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:53.382522+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SERPINH1 was added\ngene: SERPINH1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINH1 were set to Orofaciodigital syndrome VI, 277170 (3)",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:53.081384+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SERAC1 was added\ngene: SERAC1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SERAC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERAC1 were set to 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome, 614739 (3)",
"entity_name": "SERAC1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:52.785401+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SEPSECS was added\ngene: SEPSECS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEPSECS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEPSECS were set to Pontocerebellar hypoplasia type 2D, 613811 (3)",
"entity_name": "SEPSECS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:52.489647+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SEC23B was added\ngene: SEC23B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SEC23B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEC23B were set to Dyserythropoietic anemia, congenital, type II, 224100 (3)",
"entity_name": "SEC23B",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:52.209972+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SDCCAG8 was added\ngene: SDCCAG8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SDCCAG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDCCAG8 were set to Bardet-Biedl syndrome 16, 615993 (3)",
"entity_name": "SDCCAG8",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:51.897974+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SCO2 was added\ngene: SCO2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SCO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCO2 were set to Cardioencephalomyopathy, fatal infantile, due to cytochrome c oxidase deficiency 1, 604377 (3)",
"entity_name": "SCO2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:51.413110+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SC5D was added\ngene: SC5D was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SC5D were set to Lathosterolosis, 607330 (3)",
"entity_name": "SC5D",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:51.096333+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SAMHD1 were set to Aicardi-Goutieres syndrome 5, 612952 (3)",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:50.823891+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SACS was added\ngene: SACS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: SACS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SACS were set to Spastic ataxia, Charlevoix-Saguenay type, 270550 (3)",
"entity_name": "SACS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:50.558627+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RYR1 was added\ngene: RYR1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RYR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RYR1 were set to PMID: 16917943, PMID: 23919265, PMID: 30155738, PMID: 27855725\nPhenotypes for gene: RYR1 were set to Central core disease, MIM# 117000; Neuromuscular disease, congenital, with uniform type 1 fiber, MIM# 117000",
"entity_name": "RYR1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:50.220968+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RTEL1 was added\ngene: RTEL1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RTEL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RTEL1 were set to Dyskeratosis congenita, autosomal recessive 5, 615190 (3)",
"entity_name": "RTEL1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:49.893265+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RPS6KA3 was added\ngene: RPS6KA3 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPS6KA3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RPS6KA3 were set to Coffin-Lowry syndrome",
"entity_name": "RPS6KA3",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:49.475688+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RPGRIP1L was added\ngene: RPGRIP1L was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPGRIP1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPGRIP1L were set to Meckel syndrome 5, 611561 (3)",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:49.084380+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RPE65 were set to Leber congenital amaurosis 2, 204100 (3)",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:48.775773+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RP2 was added\ngene: RP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RP2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: RP2 were set to Retinitis pigmentosa 2, 312600 (3)",
"entity_name": "RP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:48.472248+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2C were set to Aicardi-Goutieres syndrome 3, 610329 (3)",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:48.175375+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2B were set to Aicardi-Goutieres syndrome 2, 610181 (3)",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:47.882272+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RNASEH2A were set to Aicardi-Goutieres syndrome 4, 610333 (3)",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:47.594854+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RMRP was added\ngene: RMRP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RMRP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMRP were set to Cartilage-hair hypoplasia, 250250 (3)",
"entity_name": "RMRP",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:47.304369+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RMND1 was added\ngene: RMND1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11, 614922 (3)",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:46.788239+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RDH12 was added\ngene: RDH12 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RDH12 were set to Leber congenital amaurosis 13, 612712 (3)",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:46.483592+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RBBP8 was added\ngene: RBBP8 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RBBP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBBP8 were set to Seckel syndrome 2, 606744 (3)",
"entity_name": "RBBP8",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:46.183460+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAX was added\ngene: RAX was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAX was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAX were set to Microphthalmia, isolated 3, 611038 (3)",
"entity_name": "RAX",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:45.885898+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RARS2 was added\ngene: RARS2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RARS2 were set to Pontocerebellar hypoplasia, type 6, 611523 (3)",
"entity_name": "RARS2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:45.592331+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAPSN was added\ngene: RAPSN was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAPSN was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAPSN were set to Fetal akinesia deformation sequence, 208150 (3)",
"entity_name": "RAPSN",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:45.292282+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAG2 was added\ngene: RAG2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAG2 were set to 26996199; 30046960\nPhenotypes for gene: RAG2 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)",
"entity_name": "RAG2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:45.011047+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAG1 was added\ngene: RAG1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative, 601457 (3)",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:44.759826+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAB3GAP2 was added\ngene: RAB3GAP2 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB3GAP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP2 were set to Warburg micro syndrome 2, 614225 (3)",
"entity_name": "RAB3GAP2",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:44.274528+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAB3GAP1 was added\ngene: RAB3GAP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB3GAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB3GAP1 were set to Warburg micro syndrome 1, 600118 (3)",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:43.990597+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAB23 was added\ngene: RAB23 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB23 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB23 were set to Carpenter syndrome, 201000 (3)",
"entity_name": "RAB23",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:43.759698+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RAB18 was added\ngene: RAB18 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: RAB18 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RAB18 were set to Warburg micro syndrome 3, 614222 (3)",
"entity_name": "RAB18",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:43.473889+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: QDPR was added\ngene: QDPR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: QDPR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: QDPR were set to Hyperphenylalaninemia, BH4-deficient, C, 261630 (3)",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:43.179657+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PUS1 was added\ngene: PUS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PUS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PUS1 were set to Mitochondrial myopathy and sideroblastic anemia 1, 600462 (3)",
"entity_name": "PUS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:42.896750+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PTS was added\ngene: PTS was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PTS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PTS were set to Hyperphenylalaninemia, BH4-deficient, A, 261640 (3)",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:42.669933+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PSAP was added\ngene: PSAP was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PSAP was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PSAP were set to Metachromatic leukodystrophy due to SAP-b deficiency, 249900 (3)",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:42.395230+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PRPS1 were set to Arts syndrome, 301835 (3)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:41.880694+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2, 262600 (3)",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:41.592621+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PRF1 was added\ngene: PRF1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRF1 were set to Hemophagocytic lymphohistiocytosis, familial, 2, 603553 (3)",
"entity_name": "PRF1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:41.366624+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PRDM5 was added\ngene: PRDM5 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PRDM5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PRDM5 were set to Brittle cornea syndrome 2, 614170 (3)",
"entity_name": "PRDM5",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:41.086126+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PQBP1 was added\ngene: PQBP1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PQBP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PQBP1 were set to Renpenning syndrome, 309500 (3)",
"entity_name": "PQBP1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:40.861841+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PPT1 was added\ngene: PPT1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: PPT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PPT1 were set to Ceroid lipofuscinosis, neuronal, 1, 256730 (3)",
"entity_name": "PPT1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:40.581662+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POU1F1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1, 613038 (3)",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2023-11-03T16:08:40.292814+11:00",
"panel_name": "Prepair 500+",
"panel_id": 4225,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: POR was added\ngene: POR was added to Prepair 500+. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: POR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POR were set to Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis, 201750 (3)",
"entity_name": "POR",
"entity_type": "gene"
}
]
}