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{
"count": 220363,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=37",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=35",
"results": [
{
"created": "2026-02-07T17:21:35.678502+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.541",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atad3a has been classified as Green List (High Evidence).",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2026-02-07T17:21:07.394439+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.540",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ATAD3A was added\ngene: ATAD3A was added to Cataract. Sources: Literature\nMode of inheritance for gene: ATAD3A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATAD3A were set to 33845882; 32607449\nPhenotypes for gene: ATAD3A were set to Pontocerebellar hypoplasia, hypotonia, and respiratory insufficiency syndrome, neonatal lethal, MIM#\t618810\nReview for gene: ATAD3A was set to GREEN\nAdded comment: PMID 33845882 reports 13 individuals from 8 unrelated families with recessive ATAD3A loss‑of‑function variants causing a neuro‑mitochondrial syndrome that includes congenital cataract; PMID 32607449 adds a consanguineous family with a homozygous splice‑site loss‑of‑function variant and early bilateral cataracts. \nSources: Literature",
"entity_name": "ATAD3A",
"entity_type": "gene"
},
{
"created": "2026-02-07T17:17:55.539231+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG8 as ready",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2026-02-07T17:17:55.532785+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2026-02-07T17:17:51.698134+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ALG8 as Green List (high evidence)",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2026-02-07T17:17:51.691258+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.539",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg8 has been classified as Green List (High Evidence).",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2026-02-07T17:17:18.171331+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.538",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ALG8 was added\ngene: ALG8 was added to Cataract. Sources: Literature\nMode of inheritance for gene: ALG8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ALG8 were set to 39792033; 26066342\nPhenotypes for gene: ALG8 were set to Congenital disorder of glycosylation, type Ih, MIM#\t608104\nReview for gene: ALG8 was set to GREEN\nAdded comment: Cataract is a reported feature of this CDG. \nSources: Literature",
"entity_name": "ALG8",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:20:46.873931+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene UPK3A from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:20:46.676136+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.199",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UPK3A was added\ngene: UPK3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services\ndisputed tags were added to gene: UPK3A.\nMode of inheritance for gene: UPK3A was set to Unknown\nPhenotypes for gene: UPK3A were set to Congenital anomaly of kidney and urinary tract, MONDO:0019719",
"entity_name": "UPK3A",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:18:30.965089+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TNXB from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:18:30.786247+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.198",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TNXB was added\ngene: TNXB was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: TNXB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TNXB were set to 23620400\nPhenotypes for gene: TNXB were set to Vesicoureteral reflux 8, MIM# 615963",
"entity_name": "TNXB",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:13:09.108737+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TBX18 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:13:08.939510+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.197",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBX18 was added\ngene: TBX18 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TBX18 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBX18 were set to 26235987\nPhenotypes for gene: TBX18 were set to Congenital anomalies of kidney and urinary tract 2, MIM# 143400",
"entity_name": "TBX18",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:10:50.583455+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SRGAP1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:10:50.418432+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.196",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SRGAP1 was added\ngene: SRGAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: SRGAP1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRGAP1 were set to 26026792\nPhenotypes for gene: SRGAP1 were set to CAKUT, MONDO:0019719, SRGAP1-related",
"entity_name": "SRGAP1",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:09:54.392537+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SOX17 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:09:54.216370+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.195",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX17 was added\ngene: SOX17 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: SOX17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX17 were set to 20960469\nPhenotypes for gene: SOX17 were set to Vesicoureteral reflux 3; OMIM #613674",
"entity_name": "SOX17",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:08:10.609594+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SLIT2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:08:10.438407+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.194",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLIT2 was added\ngene: SLIT2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: SLIT2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLIT2 were set to 26026792; 15130495\nPhenotypes for gene: SLIT2 were set to CAKUT MONDO:0019719, SLIT2-related",
"entity_name": "SLIT2",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:07:05.979100+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SLC20A1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:07:05.814613+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.193",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SLC20A1 was added\ngene: SLC20A1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature\nMode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC20A1 were set to 32850778; 27013921\nPhenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC), MONDO:0017919, SLC20A1-related",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:06:05.637473+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PAX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:06:05.470811+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.192",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PAX2 was added\ngene: PAX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: PAX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAX2 were set to 21654726; 24676634; 31060108; 32203253\nPhenotypes for gene: PAX2 were set to Papillorenal syndrome, MIM# 120330; Renal coloboma syndrome, MONDO:0007352",
"entity_name": "PAX2",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:04:53.081220+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NPHP3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:04:52.662230+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.191",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPHP3 was added\ngene: NPHP3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: NPHP3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: NPHP3 were set to Renal-hepatic-pancreatic dysplasia 1, MIM# 208540",
"entity_name": "NPHP3",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:03:40.230214+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HOXA4 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:03:39.988090+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.190",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HOXA4 was added\ngene: HOXA4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: HOXA4 was set to Unknown",
"entity_name": "HOXA4",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:02:34.210030+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FGF8 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:02:34.004227+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.189",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FGF8 was added\ngene: FGF8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia; OMIM #612702",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2026-02-07T12:00:47.208619+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FGF20 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T12:00:47.013977+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.188",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FGF20 was added\ngene: FGF20 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: FGF20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FGF20 were set to 22698282\nPhenotypes for gene: FGF20 were set to Renal hypodysplasia/aplasia 2, MIM#615721",
"entity_name": "FGF20",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:59:35.434784+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4265",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CDC5L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:59:34.863948+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.4265",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDC5L was added\ngene: CDC5L was added to Mendeliome. Sources: Expert Review Red,Expert list\nMode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC5L were set to 24429398\nPhenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "CDC5L",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:59:22.041186+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CDC5L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:59:21.870143+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.187",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CDC5L was added\ngene: CDC5L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Expert list\nMode of inheritance for gene: CDC5L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC5L were set to 24429398\nPhenotypes for gene: CDC5L were set to Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "CDC5L",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:57:59.072249+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene BMP7 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:57:58.907408+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.186",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BMP7 was added\ngene: BMP7 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Expert list\nMode of inheritance for gene: BMP7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP7 were set to 24429398\nPhenotypes for gene: BMP7 were set to Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "BMP7",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:56:43.665899+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene BICC1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:56:43.443937+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.185",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BICC1 was added\ngene: BICC1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services\nMode of inheritance for gene: BICC1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: BICC1 were set to 21922595, 35005812, 39253489, 39655693, 41278337\nPhenotypes for gene: BICC1 were set to Multicystic dysplastic kidney, MONDO:0015988; polycystic kidney disease, MONDO:0020642",
"entity_name": "BICC1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:53:41.959231+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ARID3A from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:53:41.763901+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.184",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARID3A was added\ngene: ARID3A was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Literature\nMode of inheritance for gene: ARID3A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARID3A were set to 40774958\nPhenotypes for gene: ARID3A were set to Congenital anomaly of kidney and urinary tract, MONDO:0019719, ARID3A-related",
"entity_name": "ARID3A",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:51:06.323091+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied Region ISCA-37432-Gain from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:51:05.722263+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Region: ISCA-37432-Gain was added\nRegion: ISCA-37432-Gain was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert list,Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Gain were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome\t614526; intellectual disability; seizures; congenital anomalies",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
},
{
"created": "2026-02-07T11:50:19.897704+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied Region ISCA-37432-Gain from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:50:19.713434+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.183",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Region: ISCA-37432-Gain was added\nRegion: ISCA-37432-Gain was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert list,Expert Review Green,Expert list\nMode of inheritance for Region: ISCA-37432-Gain was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for Region: ISCA-37432-Gain were set to PMID: 19844256\nPhenotypes for Region: ISCA-37432-Gain were set to Chromosome 17q12 duplication syndrome\t614526; intellectual disability; seizures; congenital anomalies",
"entity_name": "ISCA-37432-Gain",
"entity_type": "region"
},
{
"created": "2026-02-07T11:49:26.522357+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene WNT4 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:49:26.348848+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.182",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WNT4 was added\ngene: WNT4 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: WNT4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT4 were set to 18179883\nPhenotypes for gene: WNT4 were set to SERKAL syndrome; OMIM #611812",
"entity_name": "WNT4",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:48:50.445203+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene UMOD from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:48:50.232728+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UMOD was added\ngene: UMOD was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Red,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: UMOD was set to Unknown",
"entity_name": "UMOD",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:48:14.292008+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TBC1D31 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:48:14.126490+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.181",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBC1D31 was added\ngene: TBC1D31 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Literature\nMode of inheritance for gene: TBC1D31 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D31 were set to 37468454\nPhenotypes for gene: TBC1D31 were set to congenital anomaly of kidney and urinary tract MONDO:0019719, TBC1D31-related",
"entity_name": "TBC1D31",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:47:38.001616+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SIX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:47:37.836444+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SIX2 was added\ngene: SIX2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: SIX2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SIX2 were set to 24429398\nPhenotypes for gene: SIX2 were set to CAKUT, MONDO:0019719, SIX2-related",
"entity_name": "SIX2",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:47:01.844881+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HOXB6 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:47:01.634050+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.180",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HOXB6 was added\ngene: HOXB6 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: HOXB6 was set to Unknown",
"entity_name": "HOXB6",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:45:49.632916+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene FGFR1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:45:49.461795+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.179",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services\nMode of inheritance for gene: FGFR1 was set to Unknown",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:45:14.068774+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CHD1L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:45:13.806882+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHD1L was added\ngene: CHD1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Victorian Clinical Genetics Services\ndisputed tags were added to gene: CHD1L.\nMode of inheritance for gene: CHD1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CHD1L were set to 22146311; 24429398\nPhenotypes for gene: CHD1L were set to CAKUT",
"entity_name": "CHD1L",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:44:37.388352+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CBWD1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:44:37.147655+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.178",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CBWD1 was added\ngene: CBWD1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Red,Literature\nMode of inheritance for gene: CBWD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CBWD1 were set to 31862704\nPhenotypes for gene: CBWD1 were set to CAKUT",
"entity_name": "CBWD1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:44:01.257078+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene WNT9B from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:44:01.079027+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: WNT9B was added\ngene: WNT9B was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review Amber,Literature,Victorian Clinical Genetics Services\nMode of inheritance for gene: WNT9B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: WNT9B were set to PMID: 34145744\nPhenotypes for gene: WNT9B were set to Renal agenesis/hypoplasia/dysplasia, no OMIM #",
"entity_name": "WNT9B",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:43:24.839831+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene SOX11 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:43:24.570754+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.177",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert list\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SOX11 were set to 29459093; 24886874\nPhenotypes for gene: SOX11 were set to Congenital abnormalities of the kidneys and urinary tract",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:42:48.604714+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene PTCH1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:42:48.372838+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Other\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PTCH1 were set to Exstrophy-epispadias complex MONDO:0017919, PTCH1-related",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:42:12.365961+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene DSTYK from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:42:12.101790+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.176",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: DSTYK was added\ngene: DSTYK was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Victorian Clinical Genetics Services\ndisputed tags were added to gene: DSTYK.\nMode of inheritance for gene: DSTYK was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: DSTYK were set to 23862974; 37746849; 34608560; 28618409\nPhenotypes for gene: DSTYK were set to Congenital anomalies of kidney and urinary tract 1, MIM# 610805",
"entity_name": "DSTYK",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:41:36.020591+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene BCORL1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:41:35.785145+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: BCORL1 was added\ngene: BCORL1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Amber,Expert Review\nMode of inheritance for gene: BCORL1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: BCORL1 were set to Congenital anomaly of the kidney and urinary tract, MONDO:0019719, BCORL1-related",
"entity_name": "BCORL1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:40:59.469262+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TRAP1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:40:59.266809+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.175",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TRAP1 was added\ngene: TRAP1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAP1 were set to 24152966\nPhenotypes for gene: TRAP1 were set to Syndromic disease, MONDO:0002254, TRAP1-related",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:40:23.561951+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.174",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene TBC1D1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:40:23.388439+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.174",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: TBC1D1 was added\ngene: TBC1D1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: TBC1D1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TBC1D1 were set to 26572137\nPhenotypes for gene: TBC1D1 were set to CAKUT",
"entity_name": "TBC1D1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:39:46.445060+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.174",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ROBO2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:39:46.279649+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.174",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ROBO2 was added\ngene: ROBO2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: ROBO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ROBO2 were set to 18235093; 19350278; 24429398; 17357069; 26026792; 29194579; 34059960\nPhenotypes for gene: ROBO2 were set to Vesicoureteral reflux 2 - MIM#610878; CAKUT",
"entity_name": "ROBO2",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:39:07.157499+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.173",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene RET from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:39:06.993951+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.173",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RET was added\ngene: RET was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: RET was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RET were set to 22729463\nPhenotypes for gene: RET were set to CAKUT MONDO:0019719, RET-related",
"entity_name": "RET",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:38:31.357668+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.173",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene NPNT from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:38:31.194878+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.173",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: NPNT was added\ngene: NPNT was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature\nMode of inheritance for gene: NPNT was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NPNT were set to PMID: 35246978; 34049960; 17537792\nPhenotypes for gene: NPNT were set to Renal agenesis, MONDO:0018470, NPNT-related",
"entity_name": "NPNT",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:37:55.385688+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LRIG2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:37:55.216175+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LRIG2 was added\ngene: LRIG2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: LRIG2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LRIG2 were set to 23313374; 27855655; 30885509\nPhenotypes for gene: LRIG2 were set to Urofacial syndrome 2, MIM# 615112",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:37:18.987870+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene LIFR from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:37:18.806950+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.172",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: LIFR was added\ngene: LIFR was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: LIFR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: LIFR were set to 28334964; 38025229\nPhenotypes for gene: LIFR were set to CAKUT MONDO:0019719, LIFR-related",
"entity_name": "LIFR",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:36:03.829027+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.171",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene ITGA8 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:36:03.661994+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.171",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ITGA8 was added\ngene: ITGA8 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: ITGA8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITGA8 were set to 24439109\nPhenotypes for gene: ITGA8 were set to Renal hypodysplasia/aplasia 1, MIM# 191830",
"entity_name": "ITGA8",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:34:59.361321+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HNF1B from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:34:59.195979+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HNF1B was added\ngene: HNF1B was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: HNF1B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: HNF1B were set to Renal cysts and diabetes syndrome, MIM# 137920",
"entity_name": "HNF1B",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:34:24.007450+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GATA3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:34:23.845936+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.170",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GATA3 was added\ngene: GATA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\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, MIM# 146255",
"entity_name": "GATA3",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:31:35.393562+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene HPSE2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:31:35.204576+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.169",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HPSE2 was added\ngene: HPSE2 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: HPSE2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPSE2 were set to 25145936; 23313374; 33558177\nPhenotypes for gene: HPSE2 were set to Urofacial syndrome 1 MIM#236730",
"entity_name": "HPSE2",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:30:59.882587+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GREB1L from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:30:59.595315+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GREB1L was added\ngene: GREB1L was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Expert Review Green,Victorian Clinical Genetics Services,Victorian Clinical Genetics Services\nMode of inheritance for gene: GREB1L was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GREB1L were set to 29100091\nPhenotypes for gene: GREB1L were set to Renal hypodysplasia/aplasia 3, OMIM# 617805",
"entity_name": "GREB1L",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:30:23.617083+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene GFRA1 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:30:23.369036+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.168",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: GFRA1 was added\ngene: GFRA1 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature\nMode of inheritance for gene: GFRA1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GFRA1 were set to 33020172; 34737117\nPhenotypes for gene: GFRA1 were set to Renal hypodysplasia/aplasia 4, MIM# 619887",
"entity_name": "GFRA1",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:29:42.830186+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CHRNA3 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
},
{
"created": "2026-02-07T11:29:42.576326+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.167",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CHRNA3 was added\ngene: CHRNA3 was added to Congenital anomalies of the kidney and urinary tract (CAKUT). Sources: Expert Review Green,Literature\nMode of inheritance for gene: CHRNA3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNA3 were set to 31708116\nPhenotypes for gene: CHRNA3 were set to Bladder dysfunction, autonomic, with impaired pupillary reflex and secondary CAKUT, MIM# 191800",
"entity_name": "CHRNA3",
"entity_type": "gene"
},
{
"created": "2026-02-07T11:28:15.310154+11:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT)",
"panel_id": 63,
"panel_version": "0.166",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "Copied gene CDX2 from panel Congenital anomalies of the kidney and urinary tract (CAKUT) Nonsyndromic",
"entity_name": null,
"entity_type": null
}
]
}