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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=453",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=451",
"results": [
{
"created": "2024-05-20T11:34:39.173486+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HMOX1 was added\ngene: HMOX1 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: HMOX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HMOX1 were set to 21088618, 9884342, 20844238, 33066778\nPhenotypes for gene: HMOX1 were set to Disorders of haem degradation and bilirubin metabolism; heme oxygenase 1 deficiency MONDO:0013536",
"entity_name": "HMOX1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:39.057914+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYB5A was added\ngene: CYB5A was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Amber\nMode of inheritance for gene: CYB5A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYB5A were set to 22170710, 20080843, 32051920, 3951505\nPhenotypes for gene: CYB5A were set to Disorders of haem degradation and bilirubin metabolism; methemoglobinemia type 4 MONDO:0009605",
"entity_name": "CYB5A",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:38.953702+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYB5R3 was added\ngene: CYB5R3 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Green\nMode of inheritance for gene: CYB5R3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYB5R3 were set to 2107882, 1707593, 12393396\nPhenotypes for gene: CYB5R3 were set to Disorders of haem degradation and bilirubin metabolism; methemoglobinemia due to deficiency of methemoglobin reductase MONDO:0009606",
"entity_name": "CYB5R3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:34:38.832357+10:00",
"panel_name": "Haem degradation and bilirubin metabolism defects",
"panel_id": 3077,
"panel_version": "0.17",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCB6 was added\ngene: ABCB6 was added to Haem degradation and bilirubin metabolism defects. Sources: Expert Review Red\nMode of inheritance for gene: ABCB6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ABCB6 were set to 24947683\nPhenotypes for gene: ABCB6 were set to familial pseudohyperkalemia MONDO:0012204; Disorders of heme synthesis and porphyrias",
"entity_name": "ABCB6",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:31:08.122942+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SAR1B as ready",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:31:08.108743+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sar1b has been classified as Green List (High Evidence).",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:31:02.916828+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SAR1B as Green List (high evidence)",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:31:02.892639+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sar1b has been classified as Green List (High Evidence).",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:30:53.717403+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAR1B was added\ngene: SAR1B was added to Dyslipidaemia. Sources: Expert list\nMode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAR1B were set to 12692552\nPhenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM# 246700\nReview for gene: SAR1B was set to GREEN\ngene: SAR1B was marked as current diagnostic\nAdded comment: Well-established inborn error of lipoprotein metabolism \nSources: Expert list",
"entity_name": "SAR1B",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:29:38.822267+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ANGPTL3 as Green List (high evidence)",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:29:38.808852+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: angptl3 has been classified as Green List (High Evidence).",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:29:27.215152+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ANGPTL3 was added\ngene: ANGPTL3 was added to Dyslipidaemia. Sources: Expert list\nMode of inheritance for gene: ANGPTL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ANGPTL3 were set to 23150577; 20942659; 22155345; 22062970\nPhenotypes for gene: ANGPTL3 were set to Hypobetalipoproteinemia, familial, 2 MIM#605019\nReview for gene: ANGPTL3 was set to GREEN\ngene: ANGPTL3 was marked as current diagnostic\nAdded comment: Well-established inborn error of lipoprotein metabolism \nSources: Expert list",
"entity_name": "ANGPTL3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:32.121019+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UBIAD1 was added\ngene: UBIAD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: UBIAD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UBIAD1 were set to 18176953, 23169578, 31323021, 30785396, 30223810\nPhenotypes for gene: UBIAD1 were set to Schnyder corneal dystrophy MONDO:0007374 MIM#611632; Other disorders of vitamin metabolism",
"entity_name": "UBIAD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:32.017336+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: EPHX1 was added\ngene: EPHX1 was added to Vitamin metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: EPHX1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: EPHX1 were set to 34342583\nPhenotypes for gene: EPHX1 were set to Familial hypercholanemia MONDO:0011905; Other disorders of vitamin metabolism",
"entity_name": "EPHX1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.908320+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VKORC1 was added\ngene: VKORC1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: VKORC1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VKORC1 were set to 14765194\nPhenotypes for gene: VKORC1 were set to vitamin K-dependent clotting factors, combined deficiency of, type 2 MONDO:0011837; Other disorders of vitamin metabolism",
"entity_name": "VKORC1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.813808+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GGCX was added\ngene: GGCX was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: GGCX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GGCX were set to 32785662, 30531603, 26758921\nPhenotypes for gene: GGCX were set to vitamin K-dependent clotting factors, combined deficiency of, type 1 MONDO:0010187; Other disorders of vitamin metabolism",
"entity_name": "GGCX",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.708448+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TTPA was added\ngene: TTPA was added to Vitamin metabolism disorders. Sources: Expert Review green\nMode of inheritance for gene: TTPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTPA were set to 27604308, 7719340\nPhenotypes for gene: TTPA were set to familial isolated deficiency of vitamin E MONDO:0010188; Other disorders of vitamin metabolism",
"entity_name": "TTPA",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.620737+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP24A1 was added\ngene: CYP24A1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP24A1 were set to 21675912, 22047572, 33516786, 33186763, 32866123, 32743688\nPhenotypes for gene: CYP24A1 were set to Other disorders of vitamin metabolism; hypercalcemia, infantile, 1 MONDO:0020739",
"entity_name": "CYP24A1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.535069+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VDR were set to 2849209, 9005998, 17970811\nPhenotypes for gene: VDR were set to vitamin D-dependent rickets, type 2A MONDO:0010186, Other disorders of vitamin metabolism",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.450309+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP2R1 was added\ngene: CYP2R1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2R1 were set to 15128933, 28548312\nPhenotypes for gene: CYP2R1 were set to vitamin D hydroxylation-deficient rickets, type 1B MONDO:0010810; Other disorders of vitamin metabolism",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.357216+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CYP27B1 was added\ngene: CYP27B1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27B1 were set to 9486994, 9415400, 12050193, 27473561, 34492747, 33823104\nPhenotypes for gene: CYP27B1 were set to vitamin D-dependent rickets, type 1A MONDO:0020723; Other disorders of vitamin metabolism",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.248146+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RLBP1 was added\ngene: RLBP1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RLBP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RLBP1 were set to 9326942\nPhenotypes for gene: RLBP1 were set to Other disorders of vitamin metabolism; RLBP1-related retinopathy MONDO:0100444",
"entity_name": "RLBP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.144838+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALDH1A3 was added\ngene: ALDH1A3 was added to Vitamin metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: ALDH1A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALDH1A3 were set to 23312594, 23591992, 30200890\nPhenotypes for gene: ALDH1A3 were set to Isolated microphthalmia 8 MONDO:0014050; Other disorders of vitamin metabolism",
"entity_name": "ALDH1A3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:31.041988+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBP3 was added\ngene: RBP3 was added to Vitamin metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: RBP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: RBP3 were set to Retinitis pigmentosa 66 MONDO:0014093; Other disorders of vitamin metabolism",
"entity_name": "RBP3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:30.945516+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RDH12 was added\ngene: RDH12 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RDH12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RDH12 were set to 15322982; 16269441\nPhenotypes for gene: RDH12 were set to Leber congenital amaurosis 13 MONDO:0012990; Other disorders of vitamin metabolism",
"entity_name": "RDH12",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:30.806810+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RDH5 was added\ngene: RDH5 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RDH5 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RDH5 were set to 32232344; 10369264\nPhenotypes for gene: RDH5 were set to Fundus albipunctatus; Other disorders of vitamin metabolism",
"entity_name": "RDH5",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:30.700429+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RPE65 was added\ngene: RPE65 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RPE65 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RPE65 were set to 9326941\nPhenotypes for gene: RPE65 were set to Disorders of vitamin A metabolism; RPE65-related recessive retinopathy MONDO:0100368",
"entity_name": "RPE65",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:30.600410+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRAT was added\ngene: LRAT was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: LRAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRAT were set to 11381255\nPhenotypes for gene: LRAT were set to Leber congenital amaurosis 14",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:30.482886+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: STRA6 was added\ngene: STRA6 was added to Vitamin metabolism disorders. Sources: Expert Review Amber\nMode of inheritance for gene: STRA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STRA6 were set to 21901792, 18316031, 24852372\nPhenotypes for gene: STRA6 were set to Matthew-Wood syndrome MONDO:0011010; Other disorders of vitamin metabolism",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:30.395873+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RBP4 was added\ngene: RBP4 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RBP4 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: RBP4 were set to Other disorders of vitamin metabolism; microphthalmia, isolated, with coloboma 10 MONDO:0014635",
"entity_name": "RBP4",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:30.191045+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCO1 was added\ngene: BCO1 was added to Vitamin metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: BCO1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BCO1 were set to 17951468\nPhenotypes for gene: BCO1 were set to Other disorders of vitamin metabolism; hereditary hypercarotenemia and vitamin A deficiency MONDO:0007272",
"entity_name": "BCO1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.993602+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC2A10 was added\ngene: SLC2A10 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC2A10 were set to 16550171, 17935213\nPhenotypes for gene: SLC2A10 were set to Arterial tortuosity syndrome MONDO:0008818; Other disorders of vitamin metabolism",
"entity_name": "SLC2A10",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.844138+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ALPL was added\ngene: ALPL was added to Vitamin metabolism disorders. Sources: Expert review Green\nMode of inheritance for gene: ALPL was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ALPL were set to 3174660, 1409720\nPhenotypes for gene: ALPL were set to disorder of bone metabolism; Hypophosphatasia; Disorders of pyridoxine metabolism",
"entity_name": "ALPL",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.733787+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PLPBP was added\ngene: PLPBP was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: PLPBP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLPBP were set to 30668673, 36795901\nPhenotypes for gene: PLPBP were set to pyridoxine-dependent epilepsy MONDO:0009945; Disorders of pyridoxine metabolism",
"entity_name": "PLPBP",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.615445+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNPO was added\ngene: PNPO was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: PNPO was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPO were set to 34769443, 33981986, 33748042, 32888189\nPhenotypes for gene: PNPO were set to Pyridoxal phosphate-responsive seizures MONDO:0012407; Disorders of pyridoxine metabolism",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.511997+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COASY was added\ngene: COASY was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: COASY was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COASY were set to 24360804, 28489334, 27021474\nPhenotypes for gene: COASY were set to neurodegeneration with brain iron accumulation 6 MONDO:0014290; Disorders of pantothenate and CoA metabolism",
"entity_name": "COASY",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.409411+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PANK2 was added\ngene: PANK2 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: PANK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PANK2 were set to 25778941, 11479594, 12510040, 28863176\nPhenotypes for gene: PANK2 were set to pantothenate kinase-associated neurodegeneration MONDO:0009319; Disorders of pantothenate and CoA metabolism",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.248439+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NNT was added\ngene: NNT was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: NNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NNT were set to 26309815, 22634753\nPhenotypes for gene: NNT were set to Disorders of niacin and NAD metabolism; glucocorticoid deficiency 4 MONDO:0013874",
"entity_name": "NNT",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.153271+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NAXD was added\ngene: NAXD was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: NAXD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAXD were set to 30576410\nPhenotypes for gene: NAXD were set to Disorders of niacin and NAD metabolism; Mitochondrial disease MONDO:0044970",
"entity_name": "NAXD",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:29.071984+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NAXE was added\ngene: NAXE was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: NAXE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NAXE were set to 27122014, 27616477, 31758406\nPhenotypes for gene: NAXE were set to Apolipoprotein A-I binding protein deficiency; Disorders of niacin and NAD metabolism",
"entity_name": "NAXE",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.985762+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NADK2 was added\ngene: NADK2 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: NADK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NADK2 were set to 24847004, 27940755, 23212377, 28923496, 29388319\nPhenotypes for gene: NADK2 were set to Disorders of niacin and NAD metabolism; 2,4-dienoyl-CoA reductase deficiency, MIM# 616034",
"entity_name": "NADK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.902352+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NMNAT1 was added\ngene: NMNAT1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: NMNAT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NMNAT1 were set to 32533184\nPhenotypes for gene: NMNAT1 were set to Disorders of niacin and NAD metabolism; Leber congenital amaurosis 9 MONDO:0012056",
"entity_name": "NMNAT1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.811801+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFDH was added\ngene: ETFDH was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ETFDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFDH were set to 17412732, 27038534, 19249206, 15710863, 32804429\nPhenotypes for gene: ETFDH were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation",
"entity_name": "ETFDH",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.732030+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFB was added\ngene: ETFB was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ETFB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFB were set to 7912128, 12815589, 27081516, 12706375, 30626930\nPhenotypes for gene: ETFB were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation",
"entity_name": "ETFB",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.649272+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ETFA was added\ngene: ETFA was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ETFA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETFA were set to 1430199, 1882842, 21347544\nPhenotypes for gene: ETFA were set to multiple acyl-CoA dehydrogenase deficiency MONDO:0009282; Disorders of mitochondrial fatty acid oxidation",
"entity_name": "ETFA",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.562030+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC25A32 was added\ngene: SLC25A32 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC25A32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC25A32 were set to 26933868; 28443623\nPhenotypes for gene: SLC25A32 were set to Exercise intolerance, riboflavin-responsive, MONDO:0014795; Disorders of riboflavin metabolism",
"entity_name": "SLC25A32",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.476387+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FLAD1 was added\ngene: FLAD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: FLAD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FLAD1 were set to 34454814,34718578, 31392824, 30982706, 30311138, 30427553, 28433476, 27259049, 25058219\nPhenotypes for gene: FLAD1 were set to myopathy with abnormal lipid metabolism MONDO:0009703; Disorders of riboflavin metabolism",
"entity_name": "FLAD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.393003+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC52A2 was added\ngene: SLC52A2 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC52A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A2 were set to 26973221\nPhenotypes for gene: SLC52A2 were set to Brown-Vialetto-van Laere syndrome 2 MONDO:0013867; Disorders of riboflavin metabolism",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:28.293993+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC52A3 was added\ngene: SLC52A3 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC52A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC52A3 were set to 26973221\nPhenotypes for gene: SLC52A3 were set to Disorders of riboflavin metabolism; Brown-Vialetto-van Laere syndrome 1 MONDO:0024537",
"entity_name": "SLC52A3",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:27.737640+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTHFD1 was added\ngene: MTHFD1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: MTHFD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFD1 were set to 32414565; 19033438\nPhenotypes for gene: MTHFD1 were set to Combined immunodeficiency and megaloblastic anemia with or without hyperhomocysteinemia MONDO:0060611; Disorders of folate metabolism",
"entity_name": "MTHFD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:27.635950+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MTHFR was added\ngene: MTHFR was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: MTHFR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MTHFR were set to 7920641; 26872964\nPhenotypes for gene: MTHFR were set to Homocystinuria due to methylene tetrahydrofolate reductase deficiency MONDO:0009353; Disorders of folate metabolism",
"entity_name": "MTHFR",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:27.549541+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOLR1 was added\ngene: FOLR1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: FOLR1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOLR1 were set to 27743887; 30420205; 19732866\nPhenotypes for gene: FOLR1 were set to Neurodegenerative syndrome due to cerebral folate transport deficiency MONDO:0013110; Disorders of folate metabolism",
"entity_name": "FOLR1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:27.457971+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC46A1 was added\ngene: SLC46A1 was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC46A1 were set to 17129779; 7446347; 21333572\nPhenotypes for gene: SLC46A1 were set to Hereditary folate malabsorption MONDO:0009238; Disorders of folate metabolism",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:27.338182+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MMAA was added\ngene: MMAA was added to Vitamin metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: MMAA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MMAA were set to 12438653; 15523652\nPhenotypes for gene: MMAA were set to Disorders of cobalamin metabolism; methylmalonic aciduria, cblA type MONDO:0009613",
"entity_name": "MMAA",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:27.129781+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CD320 was added\ngene: CD320 was added to Vitamin metabolism disorders. Sources: Expert Review Amber\nMode of inheritance for gene: CD320 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CD320 were set to 27604308; 29663633; 30303736\nPhenotypes for gene: CD320 were set to Methylmalonic acidemia due to transcobalamin receptor defect MONDO:0013341",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:11:27.037453+10:00",
"panel_name": "Vitamin metabolism disorders",
"panel_id": 4257,
"panel_version": "1.2",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HLCS was added\ngene: HLCS was added to Vitamin metabolism disorders. Sources: Expert Review Green,ClinGen\nMode of inheritance for gene: HLCS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HLCS were set to 10190325\nPhenotypes for gene: HLCS were set to Disorders of biotin metabolism; holocarboxylase synthetase deficiency MONDO:0009666",
"entity_name": "HLCS",
"entity_type": "gene"
},
{
"created": "2024-05-20T11:08:12.633440+10:00",
"panel_name": "Metabolic Disorders Superpanel",
"panel_id": 3465,
"panel_version": "8.226",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Changed child panels to: Miscellaneous Metabolic Disorders; Congenital Disorders of Glycosylation; Fatty Acid Oxidation Defects; Lysosomal Storage Disorder; Neurotransmitter Defects; Aminoacidopathy; Glycogen Storage Diseases; Vitamin metabolism disorders; Mitochondrial disease; Monogenic Diabetes; Peroxisomal Disorders; Metal Metabolism Disorders; Dyslipidaemia; Haem degradation and bilirubin metabolism defects; Hyperammonaemia; Nucleotide metabolism disorders",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-20T11:06:42.634671+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.1",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-05-20T10:59:23.110429+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AGXT2 was added\ngene: AGXT2 was added to Nucleotide metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: AGXT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AGXT2 were set to 21572414\nPhenotypes for gene: AGXT2 were set to Beta-aminoisobutyric acid, urinary excretion of MIM#210100",
"entity_name": "AGXT2",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:23.073938+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UPB1 was added\ngene: UPB1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: UPB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UPB1 were set to 24526388; 1796483; 27604308; 15385443; 25638458; 22525402\nPhenotypes for gene: UPB1 were set to Beta-ureidopropionase deficiency MONDO:0013164; Disorders of pyrimidine metabolism",
"entity_name": "UPB1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:23.034468+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DPYS was added\ngene: DPYS was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: DPYS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPYS were set to 9718352; 29054612; 30384990\nPhenotypes for gene: DPYS were set to Dihydropyrimidinuria MONDO:0009111; Disorders of pyrimidine metabolism",
"entity_name": "DPYS",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.976765+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DPYD was added\ngene: DPYD was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: DPYD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DPYD were set to 8051923; 29152729\nPhenotypes for gene: DPYD were set to Dihydropyrimidine dehydrogenase deficiency MONDO:0010130; Disorders of pyrimidine metabolism",
"entity_name": "DPYD",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.923232+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC29A3 were set to 22238637; 18940313; 19336477\nPhenotypes for gene: SLC29A3 were set to Disorders of ectonucleotide and nucleic acid metabolism; H syndrome MONDO:0011273",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.879070+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC29A1 was added\ngene: SLC29A1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: SLC29A1 was set to Unknown",
"entity_name": "SLC29A1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.817334+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NT5E was added\ngene: NT5E was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: NT5E was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NT5E were set to 21288095\nPhenotypes for gene: NT5E were set to Disorders of ectonucleotide and nucleic acid metabolism; hereditary arterial and articular multiple calcification syndrome MONDO:0008895",
"entity_name": "NT5E",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.751818+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ENPP1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: ENPP1 were set to 20016754; 12881724\nPhenotypes for gene: ENPP1 were set to Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312; Arterial calcification, generalized, of infancy, 1, MIM# 208000",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.663555+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ABCC6 was added\ngene: ABCC6 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ABCC6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ABCC6 were set to 28102862; 11536079; 33005041; 34355424",
"entity_name": "ABCC6",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.616660+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: OAS1 was added\ngene: OAS1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: OAS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: OAS1 were set to 29455859; 34145065\nPhenotypes for gene: OAS1 were set to Disorders of ectonucleotide and nucleic acid metabolism; pulmonary alveolar proteinosis with hypogammaglobulinemia MONDO:0020840",
"entity_name": "OAS1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.568364+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TMEM173 was added\ngene: TMEM173 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: TMEM173 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TMEM173 were set to 25029335; 25401470\nPhenotypes for gene: TMEM173 were set to STING-associated vasculopathy with onset in infancy MONDO:0014405",
"entity_name": "TMEM173",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.527889+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IFIH1 was added\ngene: IFIH1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: IFIH1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: IFIH1 were set to 34185153; 24686847\nPhenotypes for gene: IFIH1 were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome 7, MIM#615846; Early-onset Inflammatory Bowel Disease",
"entity_name": "IFIH1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.482043+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADAR was added\ngene: ADAR was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ADAR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAR were set to 29221912; 23001123; 24262145\nPhenotypes for gene: ADAR were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866",
"entity_name": "ADAR",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.436774+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SAMHD1 was added\ngene: SAMHD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SAMHD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAMHD1 were set to 33307271; 21102625; 19525956; 20301648\nPhenotypes for gene: SAMHD1 were set to Disorders of mitochondrial nucleotide pool maintenance; Aicardi-Goutieres syndrome MONDO:0018866",
"entity_name": "SAMHD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.397379+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNASET2 was added\ngene: RNASET2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RNASET2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASET2 were set to 19525954; 29336640; 15851732; 27091087; 31349848; 18545798\nPhenotypes for gene: RNASET2 were set to Disorders of ectonucleotide and nucleic acid metabolism; cystic leukoencephalopathy without megalencephaly MONDO:0013058",
"entity_name": "RNASET2",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.352350+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNASEH2A was added\ngene: RNASEH2A was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RNASEH2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2A were set to 25604658; 23592335; 20301648\nPhenotypes for gene: RNASEH2A were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866",
"entity_name": "RNASEH2A",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.293411+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNASEH2C was added\ngene: RNASEH2C was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RNASEH2C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2C were set to 24183309; 23322642; 16845400\nPhenotypes for gene: RNASEH2C were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.253230+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RNASEH2B was added\ngene: RNASEH2B was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: RNASEH2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RNASEH2B were set to 33307271; 29239743; 16845400\nPhenotypes for gene: RNASEH2B were set to Disorders of ectonucleotide and nucleic acid metabolism; Aicardi-Goutieres syndrome MONDO:0018866",
"entity_name": "RNASEH2B",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.217496+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TREX1 was added\ngene: TREX1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: TREX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TREX1 were set to 21937424; 17357087; 16845398\nPhenotypes for gene: TREX1 were set to Disorder of nucleotide metabolism; Aicardi-Goutieres syndrome 1, dominant and recessive, MIM# 225750",
"entity_name": "TREX1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.180304+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC2A9 was added\ngene: SLC2A9 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC2A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC2A9 were set to 19926891; 19026395; 25966807; 21256783; 21810765\nPhenotypes for gene: SLC2A9 were set to hereditary renal hypouricemia MONDO:0009071; Disorders of purine metabolism",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.139982+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC22A12 was added\ngene: SLC22A12 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC22A12 were set to 14655203; 26821810; 34756726; 34829836; 34412930\nPhenotypes for gene: SLC22A12 were set to hereditary renal hypouricemia MONDO:0009071; Disorders of purine metabolism",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.103464+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITPA was added\ngene: ITPA was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ITPA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITPA were set to 12384777; 27604308\nPhenotypes for gene: ITPA were set to Disorders of purine metabolism; Inosine triphosphatase deficiency MIM#613850; Developmental and epileptic encephalopathy 35 MIM#616647",
"entity_name": "ITPA",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.060229+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TPMT was added\ngene: TPMT was added to Nucleotide metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: TPMT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPMT were set to {Thiopurines, poor metabolism of, 1} 610460",
"entity_name": "TPMT",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:22.016966+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IMPDH1 was added\ngene: IMPDH1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: IMPDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IMPDH1 were set to 11875049; 16384941; 11875050\nPhenotypes for gene: IMPDH1 were set to Disorders of purine metabolism; retinitis pigmentosa MONDO:0019200",
"entity_name": "IMPDH1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.974699+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AK2 was added\ngene: AK2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: AK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK2 were set to 19043417; 19043416\nPhenotypes for gene: AK2 were set to reticular dysgenesis MONDO:0009973; Disorders of purine metabolism",
"entity_name": "AK2",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.935590+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AK1 was added\ngene: AK1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: AK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AK1 were set to 2542324; 34321014; 9432020; 10233365\nPhenotypes for gene: AK1 were set to hemolytic anemia due to adenylate kinase deficiency MONDO:0012967; Disorders of purine metabolism",
"entity_name": "AK1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.896119+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: APRT was added\ngene: APRT was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: APRT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: APRT were set to 7915931; 2227934; 1353080; 3680503\nPhenotypes for gene: APRT were set to adenine phosphoribosyltransferase deficiency MONDO:0013869; Disorders of purine metabolism",
"entity_name": "APRT",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.856814+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: HPRT1 were set to 2928313; 23975452; 20176575\nPhenotypes for gene: HPRT1 were set to Lesch-Nyhan syndrome MONDO:0010298; Disorders of purine metabolism",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.814939+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: XDH was added\ngene: XDH was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: XDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: XDH were set to 32071838; 29723117\nPhenotypes for gene: XDH were set to xanthinuria type I MONDO:0010209; Disorders of purine metabolism",
"entity_name": "XDH",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.777728+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PNP was added\ngene: PNP was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: PNP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNP were set to 1384322; 11453975; 32695102; 3029074; 32514656\nPhenotypes for gene: PNP were set to Immunodeficiency due to purine nucleoside phosphorylase deficiency, MIM# 613179; Disorders of purine metabolism",
"entity_name": "PNP",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.739130+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADA2 was added\ngene: ADA2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADA2 were set to 24552284; 35095905\nPhenotypes for gene: ADA2 were set to Disorders of purine metabolism; Deficiency of adenosine deaminase 2 MONDO:0100317",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.702118+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADA was added\ngene: ADA was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ADA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADA were set to 3684597; 3475710; 2783588; 1680289\nPhenotypes for gene: ADA were set to Severe combined immunodeficiency due to ADA deficiency MIM#102700; Adenosine deaminase deficiency, partial MIM#102700; disorder of purine metabolism",
"entity_name": "ADA",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.666391+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMPD3 was added\ngene: AMPD3 was added to Nucleotide metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: AMPD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD3 were set to 8004104; 24940686; 11139257\nPhenotypes for gene: AMPD3 were set to adenosine monophosphate deaminase deficiency MONDO:0013028",
"entity_name": "AMPD3",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.629200+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMPD2 was added\ngene: AMPD2 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: AMPD2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD2 were set to 27066553; 23911318\nPhenotypes for gene: AMPD2 were set to pontocerebellar hypoplasia type 9 MONDO:0014351; Disorders of purine metabolism",
"entity_name": "AMPD2",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.591693+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AMPD1 was added\ngene: AMPD1 was added to Nucleotide metabolism disorders. Sources: Expert Review Red\nMode of inheritance for gene: AMPD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AMPD1 were set to 27296017; 21343608\nPhenotypes for gene: AMPD1 were set to adenosine monophosphate deaminase deficiency MONDO:0013028",
"entity_name": "AMPD1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.551194+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ADSL was added\ngene: ADSL was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: ADSL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADSL were set to 1302001; 22180458; 27626380; 18524658\nPhenotypes for gene: ADSL were set to disorder of purine metabolism; Adenylosuccinase deficiency MIM#103050",
"entity_name": "ADSL",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.513510+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PRPS1 was added\ngene: PRPS1 was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: PRPS1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: PRPS1 were set to 20380929; 17701900\nPhenotypes for gene: PRPS1 were set to PRPS1 deficiency disorder MONDO:0100061; Disorders of purine metabolism",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.465069+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UNG was added\ngene: UNG was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: UNG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UNG were set to 12958596; 23585684; 32135276\nPhenotypes for gene: UNG were set to hyper-IgM syndrome type 5 MONDO:0011971; Disorders of ectonucleotide and nucleic acid metabolism",
"entity_name": "UNG",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.416641+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: AICDA was added\ngene: AICDA was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: AICDA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AICDA were set to 10373455; 21700883; 14962793\nPhenotypes for gene: AICDA were set to hyper-IgM syndrome type 2 MONDO:0011528; Disorders of ectonucleotide and nucleic acid metabolism",
"entity_name": "AICDA",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.382688+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NT5C3A was added\ngene: NT5C3A was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: NT5C3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NT5C3A were set to 11369620\nPhenotypes for gene: NT5C3A were set to disorder of pyrimidine metabolism; Anemia, hemolytic, due to UMPH1 deficiency MIM#266120",
"entity_name": "NT5C3A",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.348313+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UMPS was added\ngene: UMPS was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: UMPS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UMPS were set to 33489760; 9042911\nPhenotypes for gene: UMPS were set to Orotic aciduria, MIM# 258900",
"entity_name": "UMPS",
"entity_type": "gene"
},
{
"created": "2024-05-20T10:59:21.290882+10:00",
"panel_name": "Nucleotide metabolism disorders",
"panel_id": 4294,
"panel_version": "0.0",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DHODH was added\ngene: DHODH was added to Nucleotide metabolism disorders. Sources: Expert Review Green\nMode of inheritance for gene: DHODH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DHODH were set to 19915526\nPhenotypes for gene: DHODH were set to Miller syndrome MIM#263750; Disorders of pyrimidine metabolism",
"entity_name": "DHODH",
"entity_type": "gene"
}
]
}