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{
"count": 221303,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=679",
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"results": [
{
"created": "2022-12-01T16:31:44.229776+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: WDR72 was added\ngene: WDR72 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: WDR72 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WDR72 were set to 30028803; 30779877\nPhenotypes for gene: WDR72 were set to Amelogenesis imperfecta, type IIA3, MIM# 613211; Distal RTA",
"entity_name": "WDR72",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.163920+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VPS33B was added\ngene: VPS33B was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: VPS33B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VPS33B were set to 31777725; 31240160; 24415890; 15052268\nPhenotypes for gene: VPS33B were set to Arthrogryposis, renal dysfunction, and cholestasis 1 (MIM#208085)",
"entity_name": "VPS33B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.104228+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VIPAS39 was added\ngene: VIPAS39 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: VIPAS39 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VIPAS39 were set to 20190753; 35151346\nPhenotypes for gene: VIPAS39 were set to Arthrogryposis, renal dysfunction, and cholestasis 2, MIM#613404",
"entity_name": "VIPAS39",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:44.044699+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: VDR was added\ngene: VDR was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: VDR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: VDR were set to 17970811; 9005998; 2849209\nPhenotypes for gene: VDR were set to Rickets, vitamin D-resistant, type IIA, MIM# 277440",
"entity_name": "VDR",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.984790+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UMOD was added\ngene: UMOD was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: UMOD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UMOD were set to 12471200; 12629136\nPhenotypes for gene: UMOD were set to Hyperuricemic nephropathy, familial juvenile 1, MIM#\t162000",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.926281+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRPM6 was added\ngene: TRPM6 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: TRPM6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRPM6 were set to 21669885\nPhenotypes for gene: TRPM6 were set to Hypomagnesaemia 1, intestinal (MIM#602014)",
"entity_name": "TRPM6",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.864351+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBCE was added\ngene: TBCE was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: TBCE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBCE were set to 27666369\nPhenotypes for gene: TBCE were set to Hypoparathyroidism-retardation-dysmorphism syndrome, OMIM #241410",
"entity_name": "TBCE",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.800868+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STX16 was added\ngene: STX16 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: STX16 was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: STX16 were set to 27338644; 15579741; 14561710; 24438374\nPhenotypes for gene: STX16 were set to Pseudohypoparathyroidism, type IB, MIM#603233",
"entity_name": "STX16",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.743370+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRADA was added\ngene: STRADA was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STRADA were set to 30311510, 28688840, 27170158, 17522105\nPhenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy; OMIM #611087",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.686106+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A9 was added\ngene: SLC7A9 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SLC7A9 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC7A9 were set to 10471498\nPhenotypes for gene: SLC7A9 were set to Cystinuria, MIM# 220100",
"entity_name": "SLC7A9",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.627176+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC7A7 was added\ngene: SLC7A7 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: SLC7A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC7A7 were set to 10080182; 18716612\nPhenotypes for gene: SLC7A7 were set to Lysinuric protein intolerance, MIM# 222700",
"entity_name": "SLC7A7",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.568148+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A20 was added\ngene: SLC6A20 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: SLC6A20 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC6A20 were set to 24816252; 19033659\nPhenotypes for gene: SLC6A20 were set to Hyperglycinuria, MIM# 138500",
"entity_name": "SLC6A20",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.509976+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A19 was added\ngene: SLC6A19 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert list,Expert Review Green\nMode of inheritance for gene: SLC6A19 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC6A19 were set to 15286788\nPhenotypes for gene: SLC6A19 were set to Hyperglycinuria, MIM# 138500; Hartnup disorder, MIM# 234500; Iminoglycinuria, MIM# 242600",
"entity_name": "SLC6A19",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.449063+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A2 was added\ngene: SLC5A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: SLC5A2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SLC5A2 were set to 21165652; 12436245; 26376857\nPhenotypes for gene: SLC5A2 were set to Renal glucosuria, MIM#\t233100",
"entity_name": "SLC5A2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.390757+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A4 was added\ngene: SLC4A4 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: SLC4A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC4A4 were set to 29914390; 10545938; 11274232; 35260236; 33439394\nPhenotypes for gene: SLC4A4 were set to Hemiplegic migraine; Renal tubular acidosis, proximal, with ocular abnormalities, MIM# 604278",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.332824+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC4A1 was added\ngene: SLC4A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: SLC4A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC4A1 were set to 10926824; 9312167; 9854053; 9600966\nPhenotypes for gene: SLC4A1 were set to Distal renal tubular acidosis 4 with haemolytic anaemia, MIM# 611590; MONDO:0012700; MONDO:0008368; Distal renal tubular acidosis 1, MIM# 179800",
"entity_name": "SLC4A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.275508+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC3A1 was added\ngene: SLC3A1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SLC3A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC3A1 were set to 25964309\nPhenotypes for gene: SLC3A1 were set to Cystinuria, MIM# 220100",
"entity_name": "SLC3A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.193779+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC34A3 was added\ngene: SLC34A3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: SLC34A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC34A3 were set to 32524022\nPhenotypes for gene: SLC34A3 were set to Hypophosphataemic rickets with hypercalciuria, (MIM#241530)",
"entity_name": "SLC34A3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.130991+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC34A1 was added\ngene: SLC34A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: SLC34A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SLC34A1 were set to 33099630; 32216560; 31188746; 30943683; 26047794; 33516786; 30778725; 12324554; 32866123\nPhenotypes for gene: SLC34A1 were set to Nephrolithiasis/osteoporosis, hypophosphatemic, 1 612286; Hypercalcaemia, infantile, 2 MIM#616963",
"entity_name": "SLC34A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.075929+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A9 was added\ngene: SLC2A9 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: SLC2A9 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SLC2A9 were set to 19926891; 25966807; 21256783; 19026395; 21810765\nPhenotypes for gene: SLC2A9 were set to Hypouricaemia, renal, 2, MIM# 612076",
"entity_name": "SLC2A9",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:43.012043+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC2A2 was added\ngene: SLC2A2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: SLC2A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC2A2 were set to 22145468; 30950137\nPhenotypes for gene: SLC2A2 were set to Fanconi-Bickel syndrome, MIM# 227810",
"entity_name": "SLC2A2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.951651+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC22A12 was added\ngene: SLC22A12 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SLC22A12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC22A12 were set to 34756726; 34412930; 26821810; 34829836; 14655203\nPhenotypes for gene: SLC22A12 were set to Hypouricemia, renal, MIM# 220150, MONDO:0020728",
"entity_name": "SLC22A12",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.893006+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A3 was added\ngene: SLC12A3 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SLC12A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A3 were set to 8528245; 11102542\nPhenotypes for gene: SLC12A3 were set to Gitelman syndrome, MIM# 263800",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.835857+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC12A1 was added\ngene: SLC12A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: SLC12A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC12A1 were set to 8640224, 9355073, 28095294\nPhenotypes for gene: SLC12A1 were set to Bartter syndrome, type 1, OMIM #601678",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.760816+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1G was added\ngene: SCNN1G was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCNN1G were set to 22207244; 31655555; 28484659; 30801930\nPhenotypes for gene: SCNN1G were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 2, MIM# 618114",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.704496+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1B was added\ngene: SCNN1B was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: SCNN1B was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCNN1B were set to 8589714\nPhenotypes for gene: SCNN1B were set to Pseudohypoaldosteronism, type I, MIM# 264350; Liddle syndrome 1, MIM# 177200",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.646752+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCNN1A was added\ngene: SCNN1A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: SCNN1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCNN1A were set to 28710092; 31301676\nPhenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 613021 AD; Pseudohypoaldosteronism, type I 264350 AR.; ?Liddle syndrome 3 618126 AD",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.586172+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN4A was added\ngene: SCN4A was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: SCN4A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCN4A were set to 34671263; 11591859; 8385748\nPhenotypes for gene: SCN4A were set to Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Myasthenic syndrome, congenital, 16, MIM# 614198; Hypokalemic periodic paralysis, type 2, MIM# 613345; Paramyotonia congenita , MIM#168300; Hyperkalemic periodic paralysis, type 2, MIM# 170500",
"entity_name": "SCN4A",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.530309+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SARS2 was added\ngene: SARS2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: SARS2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SARS2 were set to 35790048; 28236339; 36041817; 34570399\nPhenotypes for gene: SARS2 were set to neurodevelopmental disorder MONDO#070009, SARS1-related",
"entity_name": "SARS2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.474306+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RRM2B was added\ngene: RRM2B was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: RRM2B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RRM2B were set to 32827185; 24741716\nPhenotypes for gene: RRM2B were set to Rod-cone dystrophy, sensorineural deafness, and Fanconi-type renal dysfunction, MIM# 268315; Mitochondrial DNA depletion syndrome 8A (encephalomyopathic type with renal tubulopathy) MIM#612075; Mitochondrial DNA depletion syndrome 8B (MNGIE type) MIM#612075",
"entity_name": "RRM2B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.417366+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RMND1 was added\ngene: RMND1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: RMND1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RMND1 were set to 18835491; 23022099; 25604853; 23022098; 26395190\nPhenotypes for gene: RMND1 were set to Combined oxidative phosphorylation deficiency 11 MIM#614922",
"entity_name": "RMND1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.356553+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RET were set to 8099202; 7906866\nPhenotypes for gene: RET were set to Multiple endocrine neoplasia IIB, MIM# 162300; Multiple endocrine neoplasia IIA, MIM# 171400",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.298862+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTH1R was added\ngene: PTH1R was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: PTH1R was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PTH1R were set to 7701349; 17164305; 8855805; 15525660; 19061984\nPhenotypes for gene: PTH1R were set to Metaphyseal chondrodysplasia, Murk Jansen type MIM#156400; Failure of tooth eruption, primary MIM#125350; Eiken syndrome MIM#600002; Chondrodysplasia, Blomstrand type MIM#215045",
"entity_name": "PTH1R",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.240916+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PTH was added\ngene: PTH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: PTH was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: PTH were set to 2212001, 1302009, 10523031, 35165722, 32421798\nPhenotypes for gene: PTH were set to Hypoparathyroidism, familial isolated 1, MIM# 146200",
"entity_name": "PTH",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.153761+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PHEX was added\ngene: PHEX was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: PHEX was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: PHEX were set to 31065622\nPhenotypes for gene: PHEX were set to Hypophosphatemic rickets, X-linked dominant; OMIM #307800",
"entity_name": "PHEX",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.095290+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDE3A was added\ngene: PDE3A was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: PDE3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PDE3A were set to 25961942\nPhenotypes for gene: PDE3A were set to Hypertension and brachydactyly syndrome, MIM# 112410",
"entity_name": "PDE3A",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:42.033802+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PCBD1 was added\ngene: PCBD1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: PCBD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PCBD1 were set to 24848070; 24204001\nPhenotypes for gene: PCBD1 were set to Hyperphenylalaninemia, BH4-deficient, D, MIM# 264070",
"entity_name": "PCBD1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.976855+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: OCRL was added\ngene: OCRL was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: OCRL was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: OCRL were set to 19773212, 27625797\nPhenotypes for gene: OCRL were set to Dent disease 2, MIM #300555; Lowe syndrome, MIM# 309000",
"entity_name": "OCRL",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.921882+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR3C2 was added\ngene: NR3C2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: NR3C2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR3C2 were set to 11134129; 11344206; 9662404; 16972228; 12788847\nPhenotypes for gene: NR3C2 were set to Pseudohypoaldosteronism type I, autosomal dominant, MIM# 177735; MONDO:0008329",
"entity_name": "NR3C2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.867747+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NR3C1 was added\ngene: NR3C1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: NR3C1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NR3C1 were set to 12754700, 1704018, 8445027, 31995340\nPhenotypes for gene: NR3C1 were set to Glucocorticoid resistance, OMIM # 615962",
"entity_name": "NR3C1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.806799+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MUT was added\ngene: MUT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MUT were set to 1977311; 11528502; 12948746\nPhenotypes for gene: MUT were set to Methylmalonic aciduria, mut(0) type, MIM# 251000",
"entity_name": "MUT",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.746240+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MOCOS was added\ngene: MOCOS was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: MOCOS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: MOCOS were set to 17368066; 34356852; 11302742; 32073534; 14624414; 27919260; 25967871; 30758870\nPhenotypes for gene: MOCOS were set to Xanthinuria type II, MIM#603592",
"entity_name": "MOCOS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.690013+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MEN1 was added\ngene: MEN1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: MEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MEN1 were set to 31797261, 14985373\nPhenotypes for gene: MEN1 were set to Multiple endocrine neoplasia 1 MIM#131100",
"entity_name": "MEN1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.635674+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MAGED2 was added\ngene: MAGED2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: MAGED2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: MAGED2 were set to 34895150; 35668994; 27120771\nPhenotypes for gene: MAGED2 were set to Bartter syndrome, type 5, antenatal, transient, MIM# 300971",
"entity_name": "MAGED2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.581731+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: LCAT was added\ngene: LCAT was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LCAT were set to 6624548; 30720493\nPhenotypes for gene: LCAT were set to Lecithin:Cholesterol Acyltransferase Deficiency, MIM# 245900; Fish-Eye disease, MIM# 136120",
"entity_name": "LCAT",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.523748+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLHL3 was added\ngene: KLHL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: KLHL3 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KLHL3 were set to 24821705; 34022862; 22406640; 22266938; 32462939\nPhenotypes for gene: KLHL3 were set to Pseudohypoaldosteronism, type IID, MIM# 614495",
"entity_name": "KLHL3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.466189+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ5 was added\ngene: KCNJ5 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: KCNJ5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNJ5 were set to 24574546; 22203740; 24420545; 21311022\nPhenotypes for gene: KCNJ5 were set to Hyperaldosteronism, familial, type III, MIM# 613677",
"entity_name": "KCNJ5",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.413144+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ16 was added\ngene: KCNJ16 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: KCNJ16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ16 were set to 33811157; 33840812\nPhenotypes for gene: KCNJ16 were set to deafness; Renal tubulopathy; Inherited renal tubular disease, MONDO:0015962, KCNJ16-related",
"entity_name": "KCNJ16",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.355839+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ10 was added\ngene: KCNJ10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: KCNJ10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ10 were set to 21849804; 19420365; 19289823; 11466414\nPhenotypes for gene: KCNJ10 were set to SESAME syndrome, MIM# 612780",
"entity_name": "KCNJ10",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.300803+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNJ1 was added\ngene: KCNJ1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: KCNJ1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KCNJ1 were set to 19096086; 12086641; 8841184; 9580661; 12122007; 7635463\nPhenotypes for gene: KCNJ1 were set to Bartter syndrome, type 2, MIM#241200",
"entity_name": "KCNJ1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.244290+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KCNA1 was added\ngene: KCNA1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: KCNA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNA1 were set to 32316562; 11026449\nPhenotypes for gene: KCNA1 were set to Epilepsy, MONDO:0005027, KCNA1-related; Episodic ataxia/myokymia syndrome, MIM# 160120",
"entity_name": "KCNA1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.187995+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD3B2 was added\ngene: HSD3B2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: HSD3B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD3B2 were set to 1363812, 18252794\nPhenotypes for gene: HSD3B2 were set to Adrenal hyperplasia, congenital, due to 3-beta-hydroxysteroid dehydrogenase 2 deficiency, MIM# 201810",
"entity_name": "HSD3B2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.135161+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSD11B2 was added\ngene: HSD11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: HSD11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSD11B2 were set to 7670488; 17314322; 9683587\nPhenotypes for gene: HSD11B2 were set to MONDO:0009025; Apparent mineralocorticoid excess, MIM# 218030",
"entity_name": "HSD11B2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.082799+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HPRT1 was added\ngene: HPRT1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HPRT1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: HPRT1 were set to 20176575\nPhenotypes for gene: HPRT1 were set to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:41.031289+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HOGA1 was added\ngene: HOGA1 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: HOGA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HOGA1 were set to 21896830; 20797690; 22391140\nPhenotypes for gene: HOGA1 were set to Hyperoxaluria, primary, type III MIM#613616",
"entity_name": "HOGA1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.976397+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF4A was added\ngene: HNF4A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: HNF4A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNF4A were set to 31875549; 30005691; 28458902; 24285859; 22802087\nPhenotypes for gene: HNF4A were set to MODY, type I, OMIM # 125850; Fanconi renotubular syndrome 4, with maturity-onset diabetes of the young, OMIM #616026",
"entity_name": "HNF4A",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.925454+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNF1B were set to 27234911\nPhenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM#137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.873010+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRHPR was added\ngene: GRHPR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: GRHPR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRHPR were set to 11030416; 24116921; 10484776\nPhenotypes for gene: GRHPR were set to Hyperoxaluria, primary, type II, MIM# 260000; MONDO:0009824",
"entity_name": "GRHPR",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.820708+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNAS was added\ngene: GNAS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GNAS was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: GNAS were set to 15331575\nPhenotypes for gene: GNAS were set to Pseudohypoparathyroidism Ic (612462) AD; Pituitary adenoma 3, multiple types, somatic (617686); Pseudohypoparathyroidism Ia (103580) AD; Pseudohypoparathyroidism Ib (603233) AD; Osseous heteroplasia, progressive (166350) AD; Pseudopseudohypoparathyroidism (612463)",
"entity_name": "GNAS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.765081+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GNA11 was added\ngene: GNA11 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: GNA11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GNA11 were set to 27334330; 23802536; 23802516; 26818911; 24823460\nPhenotypes for gene: GNA11 were set to Hypocalciuric hypercalcemia, type II MIM#145981; Hypocalcemia, autosomal dominant 2 MIM#615361",
"entity_name": "GNA11",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.711134+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLA was added\ngene: GLA was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: GLA were set to 8878432; 30681346; 31613176\nPhenotypes for gene: GLA were set to Fabry disease (MIM# 301500)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.657026+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GCM2 was added\ngene: GCM2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GCM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: GCM2 were set to 27745835, 20190276, 34967908, 35038313\nPhenotypes for gene: GCM2 were set to Hyperparathyroidism 4, OMIM #617343; Hypoparathyroidism, familial isolated 2, OMIM #618883",
"entity_name": "GCM2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.602605+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATM was added\ngene: GATM was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: GATM was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATM were set to 29654216\nPhenotypes for gene: GATM were set to Fanconi renotubular syndrome 1, MIM# 134600",
"entity_name": "GATM",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.548977+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GATA3 was added\ngene: GATA3 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: GATA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GATA3 were set to 10935639, 11389161, 21120445, 26316437, 25771973, 27387476, 30396722\nPhenotypes for gene: GATA3 were set to Hypoparathyroidism, sensorineural deafness, and renal dysplasia, OMIM #146255",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.496512+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GALNT3 was added\ngene: GALNT3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: GALNT3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GALNT3 were set to 20358599; 32125652; 15133511\nPhenotypes for gene: GALNT3 were set to Tumoral calcinosis, hyperphosphatemic, familial, 1, MIM# 211900",
"entity_name": "GALNT3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.445415+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FOXI1 was added\ngene: FOXI1 was added to Renal Tubulopathies and related disorders. Sources: Literature,Expert Review Green\nMode of inheritance for gene: FOXI1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FOXI1 were set to 12642503; 29242249; 9843211\nPhenotypes for gene: FOXI1 were set to autosomal recessive distal renal tubular acidosis MONDO:0018440",
"entity_name": "FOXI1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.393737+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGF23 was added\ngene: FGF23 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: FGF23 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: FGF23 were set to 25378588; 34444516; 16151858; 16030159; 15590700; 11062477; 14966565\nPhenotypes for gene: FGF23 were set to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.342080+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to 32833257; 19250384; 20825432; 33676444; 32299476\nPhenotypes for gene: FAM20C were set to MONDO:0009821; Raine syndrome, MIM# 259775",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.291259+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20A was added\ngene: FAM20A was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: FAM20A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20A were set to 24196488; 23697977; 23434854; 23468644; 25827751; 24756937; 21549343; 24259279; 21990045; 26502894\nPhenotypes for gene: FAM20A were set to Amelogenesis imperfecta, type IG (enamel-renal syndrome) MIM#204690",
"entity_name": "FAM20A",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.240431+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM111A was added\ngene: FAM111A was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: FAM111A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FAM111A were set to 33010201; 32996714; 23684011; 32765931\nPhenotypes for gene: FAM111A were set to autosomal dominant Kenny-Caffey syndrome MONDO:0007478",
"entity_name": "FAM111A",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.175794+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAH was added\ngene: FAH was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: FAH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAH were set to 8318997; 8364576; 8253378; 1401056; 25681080\nPhenotypes for gene: FAH were set to Tyrosinemia type I MONDO:0010161",
"entity_name": "FAH",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.124380+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ENPP1 was added\ngene: ENPP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,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 15605415; 20016754; 12881724; 20137772; 20137773; 33005041; 35220637; 28964717; 24075184; 26617416; 32598042\nPhenotypes for gene: ENPP1 were set to Arterial calcification, generalized, of infancy, 1, MIM# 208000; Cole disease, MIM# 615522; Hypophosphatemic rickets, autosomal recessive, 2, MIM# 613312",
"entity_name": "ENPP1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.074707+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: DMP1 was added\ngene: DMP1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: DMP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DMP1 were set to 32920683; 17033621; 17033625\nPhenotypes for gene: DMP1 were set to Hypophosphatemic rickets MIM#241520",
"entity_name": "DMP1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:40.024549+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP2R1 was added\ngene: CYP2R1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: CYP2R1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP2R1 were set to 28548312; 15128933\nPhenotypes for gene: CYP2R1 were set to Rickets due to defect in vitamin D 25-hydroxylation deficiency MIM#600081",
"entity_name": "CYP2R1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.963101+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP27B1 was added\ngene: CYP27B1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: CYP27B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP27B1 were set to 27473561; 34492747; 12050193; 9486994; 33823104; 9415400\nPhenotypes for gene: CYP27B1 were set to Vitamin D-dependent rickets, type I MIM#264700",
"entity_name": "CYP27B1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.912698+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP24A1 was added\ngene: CYP24A1 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: CYP24A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP24A1 were set to 21675912; 33186763; 32743688; 33516786; 32866123; 22047572\nPhenotypes for gene: CYP24A1 were set to Hypercalcaemia, infantile, 1, MIM# 143880; MONDO:0020739",
"entity_name": "CYP24A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.863349+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP21A2 was added\ngene: CYP21A2 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CYP21A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP21A2 were set to 11397897; 12930931; 12915679\nPhenotypes for gene: CYP21A2 were set to Hyperandrogenism, nonclassic type, due to 21-hydroxylase deficiency, 201910; Adrenal hyperplasia, congenital, due to 21-hydroxylase deficiency, 201910",
"entity_name": "CYP21A2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.810712+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP17A1 was added\ngene: CYP17A1 was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CYP17A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP17A1 were set to 2843762, 14671162, 2026124\nPhenotypes for gene: CYP17A1 were set to 17-alpha-hydroxylase/17,20-lyase deficiency, MIM# 202110",
"entity_name": "CYP17A1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.747216+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11B2 was added\ngene: CYP11B2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: CYP11B2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CYP11B2 were set to 9360501; 9814506; 12788848; 8439335; 8772616; 15240589\nPhenotypes for gene: CYP11B2 were set to Hypoaldosteronism, congenital, due to CMO I deficiency (MIM#203400) or due to CMO II deficiency (MIM#610600)",
"entity_name": "CYP11B2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.694251+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CYP11B1 was added\ngene: CYP11B1 was added to Renal Tubulopathies and related disorders. Sources: Expert Review,Expert Review Green\nMode of inheritance for gene: CYP11B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CYP11B1 were set to 29703198; 1731223\nPhenotypes for gene: CYP11B1 were set to Aldosteronism, glucocorticoid-remediable, MIM#\t103900",
"entity_name": "CYP11B1",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.640893+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CUL3 was added\ngene: CUL3 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: CUL3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CUL3 were set to 22266938\nPhenotypes for gene: CUL3 were set to Pseudohypoaldosteronism, type IIE, MIM# 614496",
"entity_name": "CUL3",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.541491+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNS was added\ngene: CTNS was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CTNS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CTNS were set to 20301574, 9537412, 31068690\nPhenotypes for gene: CTNS were set to Cystinosis, nephropathic MIM#219800",
"entity_name": "CTNS",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.482828+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CPT2 was added\ngene: CPT2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: CPT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CPT2 were set to 11477613; 12410208; 8358442; 8651281\nPhenotypes for gene: CPT2 were set to CPT II deficiency, lethal neonatal 608836; CPT II deficiency, infantile 600649; CPT II deficiency, myopathic, stress-induced 255110",
"entity_name": "CPT2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.429860+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CNNM2 was added\ngene: CNNM2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: CNNM2 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CNNM2 were set to 35170241; 34604137\nPhenotypes for gene: CNNM2 were set to Hypomagnesemia 6, renal MIM#613882; Hypomagnesemia, seizures, and mental retardation MIM#616418",
"entity_name": "CNNM2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.366109+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN19 was added\ngene: CLDN19 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: CLDN19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN19 were set to 22422540; 27530400; 17033971\nPhenotypes for gene: CLDN19 were set to Hypomagnesaemia 5, renal, with ocular involvement, MIM#248190",
"entity_name": "CLDN19",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.310296+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN16 was added\ngene: CLDN16 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: CLDN16 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN16 were set to 16501001; 32869508; 10878661; 26426912\nPhenotypes for gene: CLDN16 were set to amelogenesis imperfecta MONDO#0019507, CLDN16-related; Hypomagnesemia 3, renal MIM#248250",
"entity_name": "CLDN16",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.256688+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLDN10 was added\ngene: CLDN10 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Magnesium v38.1.0,Expert Review Green\nMode of inheritance for gene: CLDN10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLDN10 were set to 28686597\nPhenotypes for gene: CLDN10 were set to HELIX syndrome, MIM#617671",
"entity_name": "CLDN10",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.204761+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCNKB was added\ngene: CLCNKB was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CLCNKB was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CLCNKB were set to 18310267; 15044642; 9326936\nPhenotypes for gene: CLCNKB were set to Bartter syndrome, type 3, MIM# 607364; Bartter syndrome, type 4b, digenic, MIM# 613090",
"entity_name": "CLCNKB",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.153419+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN5 was added\ngene: CLCN5 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CLCN5 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: CLCN5 were set to 28580211; 8559248, 9596078\nPhenotypes for gene: CLCN5 were set to Dent disease, MIM#300009; Nephrolithiasis, type I, MIM#310468; Proteinuria, low molecular weight, with hypercalciuric nephrocalcinosis, MIM#308990; Hypophosphatemic rickets, MIM#300554",
"entity_name": "CLCN5",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.103926+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CLCN2 was added\ngene: CLCN2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: CLCN2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CLCN2 were set to 29403012; 29403011\nPhenotypes for gene: CLCN2 were set to Hyperaldosteronism, familial, type II 605635",
"entity_name": "CLCN2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.051619+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDKN1B was added\ngene: CDKN1B was added to Renal Tubulopathies and related disorders. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CDKN1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDKN1B were set to 24819502, 17030811, 23555276\nPhenotypes for gene: CDKN1B were set to Multiple endocrine neoplasia type 4, MEN4, OMIM #610755",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:39.003766+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CDC73 was added\ngene: CDC73 was added to Renal Tubulopathies and related disorders. Sources: KidGen_CalcPhos v38.1.0,Expert Review Green\nMode of inheritance for gene: CDC73 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC73 were set to 12434154\nPhenotypes for gene: CDC73 were set to Hyperparathyroidism-jaw tumour syndrome, MIM# 145001; Hyperparathyroidism, familial primary, MIM# 145000",
"entity_name": "CDC73",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.952590+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASR was added\ngene: CASR was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CASR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASR were set to 30760291; 8813042; 27234911\nPhenotypes for gene: CASR were set to Hypocalcemia, autosomal dominant, with Bartter syndrome, MIM#601198; Hypocalciuric hypercalcemia, type I, MIM# 145980",
"entity_name": "CASR",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.904051+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1S was added\ngene: CACNA1S was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: CACNA1S was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1S were set to 11591859; 28012042\nPhenotypes for gene: CACNA1S were set to Hypokalemic periodic paralysis, type 1, MIM# 170400",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.853542+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1H was added\ngene: CACNA1H was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: CACNA1H was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1H were set to 25907736; 31126930; 27729216\nPhenotypes for gene: CACNA1H were set to MONDO:0014875; Hyperaldosteronism, familial, type IV MIM#617027",
"entity_name": "CACNA1H",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.804426+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CACNA1D was added\ngene: CACNA1D was added to Renal Tubulopathies and related disorders. Sources: KidGen_AldoHypertension v38.1.0,Expert Review Green\nMode of inheritance for gene: CACNA1D was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CACNA1D were set to 23913001; 32336187; 30698561\nPhenotypes for gene: CACNA1D were set to MONDO:0014200; Primary aldosteronism, seizures, and neurologic abnormalities, MIM# 615474",
"entity_name": "CACNA1D",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.749165+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CA2 was added\ngene: CA2 was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: CA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CA2 were set to 34624559; 12566520; 33555497; 7627193\nPhenotypes for gene: CA2 were set to Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730",
"entity_name": "CA2",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.700082+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BSND was added\ngene: BSND was added to Renal Tubulopathies and related disorders. Sources: Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: BSND was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BSND were set to 21269598; 30174009; 11687798; 12574213; 27234911\nPhenotypes for gene: BSND were set to Bartter syndrome, type 4a, MIM# 602522",
"entity_name": "BSND",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.646862+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: BCS1L was added\ngene: BCS1L was added to Renal Tubulopathies and related disorders. Sources: KidGen_MetabolicRenal v38.1.0,Expert Review Green\nMode of inheritance for gene: BCS1L was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BCS1L were set to 26563427; 17314340; 24172246\nPhenotypes for gene: BCS1L were set to Mitochondrial complex III deficiency, nuclear type MIM#112400; Bjornstad syndrome MIM#262000; GRACILE syndrome, MIM#603358",
"entity_name": "BCS1L",
"entity_type": "gene"
},
{
"created": "2022-12-01T16:31:38.599410+11:00",
"panel_name": "Renal Tubulopathies and related disorders",
"panel_id": 3993,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: AVPR2 was added\ngene: AVPR2 was added to Renal Tubulopathies and related disorders. Sources: KidGen_Tubulopathies v38.1.0,Expert Review Green\nMode of inheritance for gene: AVPR2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: AVPR2 were set to 9127330; 1356229; 20301356; 27156763; 15872203\nPhenotypes for gene: AVPR2 were set to Nephrogenic syndrome of inappropriate antidiuresis 300539; Diabetes insipidus, nephrogenic 304800",
"entity_name": "AVPR2",
"entity_type": "gene"
}
]
}