{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=37","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&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}]}