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{
"count": 220263,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1374",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1372",
"results": [
{
"created": "2021-03-25T21:12:03.774486+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR3 was added\ngene: FGFR3 was added to Choanal atresia. Sources: UKGTN,Eligibility statement prior genetic testing,Expert Review Green,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FGFR3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FGFR3 were set to 11426459; 17935505; 20199409\nPhenotypes for gene: FGFR3 were set to Crouzon syndrome with acanthosis nigricans\t612247",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.714065+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FGFR2 was added\ngene: FGFR2 was added to Choanal atresia. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FGFR2 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: FGFR2 were set to Pfeiffer syndrome 101600; Craniofacial-skeletal-dermatologic dysplasia 101600; Apert syndrome 101200; Antley-Bixler syndrome without genital anomalies or disordered steroidogenesis 207410; Beare-Stevenson cutis gyrata syndrome 123790; Craniosynostosis, nonspecific",
"entity_name": "FGFR2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.641020+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: FAM20C was added\ngene: FAM20C was added to Choanal atresia. Sources: Expert Review Green,Literature,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: FAM20C was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FAM20C were set to 25974638\nPhenotypes for gene: FAM20C were set to Raine syndrome\t259775",
"entity_name": "FAM20C",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.569699+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EFTUD2 was added\ngene: EFTUD2 was added to Choanal atresia. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Expert Review\nMode of inheritance for gene: EFTUD2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EFTUD2 were set to 22305528\nPhenotypes for gene: EFTUD2 were set to Mandibulofacial dysostosis, Guion-Almeida type\t610536",
"entity_name": "EFTUD2",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.512115+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CTNND1 was added\ngene: CTNND1 was added to Choanal atresia. Sources: Expert Review Green,Literature\nMode of inheritance for gene: CTNND1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CTNND1 were set to 32196547\nPhenotypes for gene: CTNND1 were set to chonal atresia",
"entity_name": "CTNND1",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.454846+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Choanal atresia. Sources: Expert Review Green,Illumina TruGenome Clinical Sequencing Services,Eligibility statement prior genetic testing,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CHD7 were set to CHARGE syndrome, 214800",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2021-03-25T21:12:03.400389+11:00",
"panel_name": "Choanal atresia",
"panel_id": 3498,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Added panel Choanal atresia",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-03-25T15:23:11.126254+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.60",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: MIB1: Rating: AMBER; Mode of pathogenicity: None; Publications: 30322850; Phenotypes: Congenital heart disease; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "MIB1",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:48:08.319731+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6888",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: POLR3A were changed from Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism, MIM# 607694; Wiedemann-Rautenstrauch syndrome, MIM# 264090; Susceptibility to severe VZV infection; POLR3A-related spastic ataxia",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:47:34.118349+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6887",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: POLR3A were set to ",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:47:15.449493+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag deep intronic tag was added to gene: POLR3A.",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:46:21.918415+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families reported with homozygous missense variants. Emerging evidence. \nSources: Literature; to: Two unrelated families reported with homozygous missense variants. Emerging evidence: we are aware of two more families.\r\nSources: Literature",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:46:04.822856+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FLII: Changed rating: GREEN",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:45:53.888828+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.60",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLII were set to 32870709",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:45:42.469545+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLII as Green List (high evidence)",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:45:42.458697+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.59",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flii has been classified as Green List (High Evidence).",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:43:45.598514+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKS6 as ready",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:43:45.588516+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anks6 has been classified as Green List (High Evidence).",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:43:40.913631+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:43:18.039724+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKS6 were set to ",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:42:55.705378+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:42:24.772045+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:41:44.085329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKS6 as ready",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:41:44.075227+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anks6 has been classified as Green List (High Evidence).",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:41:23.253854+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6886",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:41:03.712823+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6885",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKS6 were set to ",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:40:42.331899+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6884",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:40:25.980223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:39:26.397382+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:39:04.895129+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS2 were set to 17618285, 23559409",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:38:35.681127+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLIS2: Changed publications: 17618285, 23559409, 31676329; Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:38:06.919026+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6883",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:37:41.780062+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6882",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS2 were set to 17618285; 23559409",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:37:19.156855+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLIS2: Changed publications: 17618285, 23559409, 31676329; Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:35:01.587794+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GLIS2: Changed phenotypes: Nephronophthisis 7, OMIM#611498, MONDO:0012680",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:34:06.316344+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLIS2 were changed from Nephronophthisis 7, OMIM#611498 to Nephronophthisis 7, OMIM#611498; MONDO:0012680",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:32:45.960554+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GLIS2 were set to 17618285; 23559409",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:32:15.264371+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLIS2: Rating: AMBER; Mode of pathogenicity: None; Publications: 31676329; Phenotypes: Nephronophthisis 7, OMIM#611498; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GLIS2",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:24:19.492344+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ANKS6 as ready",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:24:19.483291+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: anks6 has been classified as Green List (High Evidence).",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:24:00.776033+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ANKS6 were changed from to Nephronophthisis 16, MIM# 615382; MONDO:0014158",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:23:39.983688+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKS6 were set to 23793029; 31678577; 31635528; 26039630; 24610927",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:23:25.214910+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ANKS6 were set to ",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:22:54.645659+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANKS6 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T08:22:10.410845+11:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ANKS6: Rating: GREEN; Mode of pathogenicity: None; Publications: 23793029, 31678577, 31635528, 26039630, 24610927; Phenotypes: Nephronophthisis 16, MIM# 615382, MONDO:0014158; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ANKS6",
"entity_type": "gene"
},
{
"created": "2021-03-25T06:47:51.292396+11:00",
"panel_name": "Pancreatitis",
"panel_id": 154,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLDN2: Added comment: Azoospermia: single multigenerational family reported.; Changed publications: 29884332, 31163246, 31320686; Changed phenotypes: Susceptibility to pancreatitis, Azoospermia, obstructive, with nephrolithiasis, MIM# 301060; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2021-03-25T06:46:56.072113+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6881",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CLDN2 were changed from Susceptibility to pancreatitis to Susceptibility to pancreatitis; Azoospermia, obstructive, with nephrolithiasis, MIM#\t301060",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2021-03-25T06:46:39.249569+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6880",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CLDN2 were set to 29884332; 31163246",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2021-03-25T06:46:20.654902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6879",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CLDN2 was changed from Other to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2021-03-25T06:18:49.233083+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.; to: Pancreatitis: Numerous publications linking common variants at this locus with susceptibility to pancreatitis. KO mice do not have a pancreatic phenotype. Likely polygenic susceptibility rather than Mendelian disorder.",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2021-03-25T06:18:35.769058+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CLDN2: Added comment: Azoospermia: single multigenerational family reported.; Changed publications: 29884332, 31163246, 31320686; Changed phenotypes: Susceptibility to pancreatitis, Azoospermia, obstructive, with nephrolithiasis, MIM# 301060; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CLDN2",
"entity_type": "gene"
},
{
"created": "2021-03-24T21:15:15.522345+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Two unrelated families reported with homozygous missense variants. Emerging evidence. \nSources: Literature; to: Two unrelated families reported with homozygous missense variants. Emerging evidence: aware of two more families.\r\nSources: Literature",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-24T21:14:57.290589+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FLII: Changed rating: GREEN",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-24T21:14:32.082002+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6878",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FLII were set to 32870709",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-24T21:14:09.755987+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FLII as Green List (high evidence)",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-24T21:14:09.746516+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6877",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: flii has been classified as Green List (High Evidence).",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-24T15:20:05.678971+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6876",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "commented on gene: POLR3A: c.1909+22G>A is a recurring variant that results in a leaky splice site\r\n\r\nBi-allelic variants associated with Leukodystrophy and with Wiedemann-Rautenstrauch syndrome; note association between mono-allelic variants and susceptibility to severe VZV infection.\r\n\r\nDeep intronic variants commonly pathogenic\r\n\r\nNo clear gen-phen correlation",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2021-03-24T15:13:07.773753+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6876",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: POLR3A: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31637490; Phenotypes: Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism MIM#607694, Wiedemann-Rautenstrauch syndrome MIM#264090, POLR3A-related spastic ataxia; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2021-03-24T15:10:41.793918+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.58",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32870709, 11971982, 32980309; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-24T15:09:29.004303+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6876",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: FLII: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 32870709, 11971982, 32980309; Phenotypes: Dilated cardiomyopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FLII",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:52:26.364414+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSF2BP as ready",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:52:26.349041+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsf2bp has been classified as Red List (Low Evidence).",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:46:53.533392+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6876",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSF2BP was added\ngene: HSF2BP was added to Mendeliome. Sources: Expert list\nMode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSF2BP were set to 32845237\nPhenotypes for gene: HSF2BP were set to Premature ovarian failure, OMIM#619245\nReview for gene: HSF2BP was set to RED\nAdded comment: Single family reported where homozygous missense variant segregated with POF in three sisters. \nSources: Expert list",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:45:20.516882+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HSF2BP as ready",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:45:20.505169+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hsf2bp has been classified as Red List (Low Evidence).",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:45:13.609611+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HSF2BP was added\ngene: HSF2BP was added to Primary Ovarian Insufficiency_Premature Ovarian Failure. Sources: Expert list\nMode of inheritance for gene: HSF2BP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HSF2BP were set to 32845237\nPhenotypes for gene: HSF2BP were set to Premature ovarian failure, OMIM#619245\nReview for gene: HSF2BP was set to RED\nAdded comment: Single family reported where homozygous missense variant segregated with POF in three sisters. \nSources: Expert list",
"entity_name": "HSF2BP",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:43:10.275234+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL4A6 as ready",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:43:10.264804+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:43:03.057127+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6875",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL4A6 were changed from to Deafness, X-linked 6 MIM#300914",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:42:44.599860+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6874",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL4A6 were set to ",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:42:21.865175+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6873",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL4A6 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:42:04.278030+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: COL4A6 as Red List (low evidence)",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:42:04.264335+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6872",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col4a6 has been classified as Red List (Low Evidence).",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:41:12.596225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RNF6 as ready",
"entity_name": "RNF6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:41:12.584973+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf6 has been classified as Red List (Low Evidence).",
"entity_name": "RNF6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:41:04.660402+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RNF6 as Red List (low evidence)",
"entity_name": "RNF6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:41:04.649958+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6871",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rnf6 has been classified as Red List (Low Evidence).",
"entity_name": "RNF6",
"entity_type": "gene"
},
{
"created": "2021-03-24T11:40:47.876609+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RNF6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "RNF6",
"entity_type": "gene"
},
{
"created": "2021-03-24T10:11:33.472661+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6870",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: COL4A6: Rating: RED; Mode of pathogenicity: None; Publications: 23714752, 12784310; Phenotypes: ?Deafness, X-linked 6 MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females; Current diagnostic: yes",
"entity_name": "COL4A6",
"entity_type": "gene"
},
{
"created": "2021-03-23T20:08:31.890753+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RPGRIP1L as ready",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-03-23T20:08:31.880009+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rpgrip1l has been classified as Green List (High Evidence).",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-03-23T20:08:28.728874+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RPGRIP1L were changed from to Joubert syndrome 7, MIM# 611560; Meckel syndrome 5, MIM# 611561",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-03-23T20:08:05.394560+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.141",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RPGRIP1L were set to ",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-03-23T20:05:05.097120+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.140",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RPGRIP1L was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-03-23T20:04:39.950176+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: RPGRIP1L: Rating: GREEN; Mode of pathogenicity: None; Publications: 17558409, 17558407, 17960139, 26071364; Phenotypes: Joubert syndrome 7, MIM# 611560, Meckel syndrome 5, MIM# 611561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RPGRIP1L",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:51:07.553384+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:51:07.541656+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Green List (High Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:51:04.359708+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.139",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to Joubert syndrome 10, MIM# 300804",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:50:40.880454+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OFD1 were set to ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:50:11.524541+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:49:43.696889+11:00",
"panel_name": "Joubert syndrome and other neurological ciliopathies",
"panel_id": 129,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19800048, 22353940, 32944789, 30895720; Phenotypes: Joubert syndrome 10, MIM# 300804; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:44:10.586064+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MED12 as ready",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:44:10.574892+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: med12 has been classified as Green List (High Evidence).",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:44:01.756112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6870",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MED12 were changed from to Ohdo syndrome, X-linked MIM#300895; Lujan-Fryns syndrome MIM#309520; Opitz-Kaveggia syndrome MIM#305450",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:43:41.464422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6869",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MED12 were set to ",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:43:19.778060+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6868",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MED12 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "MED12",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:41:59.148861+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR2 as ready",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:41:59.138915+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr2 has been classified as Green List (High Evidence).",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:41:51.747339+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6867",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR2 were changed from to Pulmonary venoocclusive disease 1 MIM#265450; Pulmonary hypertension, familial primary, 1, with or without HHT MIM#178600; Pulmonary hypertension, primary, fenfluramine or dexfenfluramine-associated MIM#178600",
"entity_name": "BMPR2",
"entity_type": "gene"
},
{
"created": "2021-03-23T19:41:24.682902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6866",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: BMPR2 were set to ",
"entity_name": "BMPR2",
"entity_type": "gene"
}
]
}