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{
"count": 220314,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=848",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=846",
"results": [
{
"created": "2022-05-10T14:03:37.248265+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14025",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ARHGEF18 as ready",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2022-05-10T14:03:37.223013+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14025",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arhgef18 has been classified as Green List (High Evidence).",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:56:43.380774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14025",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGG was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:56:17.784759+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14024",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGG: Rating: GREEN; Mode of pathogenicity: None; Publications: 2713997, 11001902, 11001903, 9746756, 23560673, 28992465, 10980108, 15304068; Phenotypes: congenital fibrinogen deficiency MONDO:0018060; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "FGG",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:55:11.589931+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14024",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGFR3 were changed from achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833 to achondroplasia MONDO:0007037; Thanatophoric dysplasia type 1 MONDO:0008546; Thanatophoric dysplasia type 2 MONDO:0008547; hypochondroplasia MONDO:0007793; Muenke syndrome MONDO:0011274; FGFR3-related chondrodysplasia MONDO:0019685; severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658; Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833; camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:51:18.257409+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14023",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGFR3 were set to 26740388; 20301331; 20301540; 20301650; 20301628; 24864036; 17033969",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:31:23.133463+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14022",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FGFR3 was changed from to Other",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:21:32.000763+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14021",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGFR3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:21:11.588813+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCA1B as ready",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:21:11.577120+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: guca1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:21:08.802386+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCA1B were changed from Retinitis pigmentosa 48, 613827 to Retinitis pigmentosa 48, MIM#613827",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:21:00.189781+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCA1B were set to ",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:20:48.375121+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCA1B was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:20:40.234367+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GUCA1B as Amber List (moderate evidence)",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:20:40.224475+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: guca1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:20:29.379696+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GUCA1B.",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:20:18.126386+10:00",
"panel_name": "Macular Dystrophy/Stargardt Disease",
"panel_id": 303,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCA1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 15452722, 26161267; Phenotypes: Retinitis pigmentosa 48, MIM# 613827; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:19:48.242860+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14020",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: FGFR3 has many well-established gene-disease associations with various skeletal dysplasia phenotypes. Gain-of-function is the main mechanism of disease for these disorders, except camptodactyly-tall stature-scoliosis-hearing loss syndrome where bialellic loss-of-function is the expected mechanism of disease. Specific monoallelic variants cause different phenotypes: >99% achondroplasia is caused by variants leading to the missense change p.Gly380Arg; Cysteine substitutions and stop-loss protein elongation variants are highly specific for Thanatophoric dysplasia (TD) type 1; p.Lys650Glu is associated with TD type 2; p.Ala391Glu causes Crouzon syndrome with acanthosis nigricans; and p.Pro250Arg causes Muenke syndrome.; to: FGFR3 has many well-established gene-disease associations with various skeletal dysplasia phenotypes. Gain-of-function is the main mechanism of disease for these disorders, except camptodactyly-tall stature-scoliosis-hearing loss syndrome (CATSHL syndrome, see separate curation below). Specific monoallelic variants cause different phenotypes: >99% achondroplasia is caused by variants leading to the missense change p.Gly380Arg; Cysteine substitutions and stop-loss protein elongation variants are highly specific for Thanatophoric dysplasia (TD) type 1; p.Lys650Glu is associated with TD type 2; p.Ala391Glu causes Crouzon syndrome with acanthosis nigricans; and p.Pro250Arg causes Muenke syndrome.\r\nModerate evidence for CATSHL syndrome, AD & AR: PMID: 8630492, 17033969, 27139183, 24864036, 32641982 - 2 apparently unrelated families segregating the same missense, p.Arg621His. One consanguineous family with 2 affected brothers with homozygous p.Thr546Lys. Heterozygous individuals in the family were unaffected. No functional assays were conducted for either missense to demonstrate loss of function. Null mouse and zebrafish models are similar to the human CATSHL syndrome phenotype.",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:18:09.206696+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Single founder variant identified in several Japanese individuals.; to: Single founder variant identified in several Japanese individuals.\r\n\r\nNo other P/LP variants in ClinVar.",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:17:32.881360+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCA1B as ready",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:17:32.869780+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: guca1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:17:22.213084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14020",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCA1B were changed from to Retinitis pigmentosa 48, MIM# 613827",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:16:55.730704+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14019",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCA1B were set to ",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:16:29.974558+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14018",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCA1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:16:10.100036+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GUCA1B as Amber List (moderate evidence)",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:16:10.086155+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14017",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: guca1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:15:48.964678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GUCA1B: Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:15:27.097973+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14016",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FGFR3: Changed mode of pathogenicity: Other; Changed publications: 8630492, 32641982, 27139183, 24864036, 17033969, 20301331, 20301540, 20301650, 20301628; Changed phenotypes: achondroplasia MONDO:0007037, Thanatophoric dysplasia type 1 MONDO:0008546, Thanatophoric dysplasia type 2 MONDO:0008547, hypochondroplasia MONDO:0007793, Muenke syndrome MONDO:0011274, FGFR3-related chondrodysplasia MONDO:0019685, severe achondroplasia-developmental delay-acanthosis nigricans syndrome MONDO:0014658, Crouzon syndrome-acanthosis nigricans syndrome MONDO:0012833, camptodactyly-tall stature-scoliosis-hearing loss syndrome MONDO:0012504; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGFR3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:15:22.165383+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag founder tag was added to gene: GUCA1B.",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:15:09.681876+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCA1B: Rating: AMBER; Mode of pathogenicity: None; Publications: 15452722, 26161267; Phenotypes: Retinitis pigmentosa 48, MIM# 613827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCA1B",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:10:09.166733+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCY1A3 as ready",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:10:09.156977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy1a3 has been classified as Green List (High Evidence).",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:10:00.229536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14016",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCY1A3 were changed from to Moyamoya 6 with achalasia, MIM# 615750",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:09:31.693574+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14015",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCY1A3 were set to ",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:09:07.829552+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14014",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCY1A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:08:45.280405+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCY1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24581742, 26777256, 34381413, 33109895; Phenotypes: Moyamoya 6 with achalasia, MIM# 615750; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GUCY1A3",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:03:53.167256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYG1 as ready",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:03:53.149624+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gyg1 has been classified as Green List (High Evidence).",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:03:11.687857+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14013",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYG1 were changed from to Polyglucosan body myopathy 2, MIM# 616199; Glycogen storage disease XV , MIM# 613507",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:02:49.205043+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14012",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GYG1 were set to ",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:01:31.102597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14011",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GYG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2022-05-10T13:01:09.305597+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GYG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32905144, 31791869, 29422440, 25272951, 20357282; Phenotypes: Polyglucosan body myopathy 2, MIM# 616199, Glycogen storage disease XV , MIM# 613507; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GYG1",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:55:46.120470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GUCY2D as ready",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:55:46.107774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gucy2d has been classified as Green List (High Evidence).",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:55:36.438641+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14010",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GUCY2D were changed from to Cone-rod dystrophy 6, MIM# 601777; Leber congenital amaurosis 1, MIM# 204000; Night blindness, congenital stationary, type 1I, MIM# 618555",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:55:15.061067+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14009",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GUCY2D were set to ",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:54:53.848165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14008",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GUCY2D was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:54:34.669364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GUCY2D: Rating: GREEN; Mode of pathogenicity: None; Publications: 35314386, 35205358; Phenotypes: Cone-rod dystrophy 6, MIM# 601777, Leber congenital amaurosis 1, MIM# 204000, Night blindness, congenital stationary, type 1I, MIM# 618555; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GUCY2D",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:49:48.359898+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HPRT1 as ready",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:49:48.350556+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hprt1 has been classified as Green List (High Evidence).",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:49:38.579367+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14007",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HPRT1 were changed from to HPRT-related gout (MIM# 300323); Lesch-Nyhan syndrome (MIM# 300322)",
"entity_name": "HPRT1",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:44:53.638950+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14006",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGEF18 were changed from to Retinitis pigmentosa 78 MIM#617433",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:44:42.212206+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14005",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ARHGEF18 were set to ",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:44:35.271011+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14005",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGEF18 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:43:49.589147+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14004",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARHGEF18: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28132693; Phenotypes: Retinitis pigmentosa 78 MIM#617433; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARHGEF18",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:31:51.485422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14004",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ARHGDIA were set to ",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:31:50.632536+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14004",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGDIA were changed from to Nephrotic syndrome, type 8 MIM#615244",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:31:41.794533+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14004",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGDIA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:31:40.364525+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14003",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ARHGDIA as ready",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:31:40.351347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14003",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arhgdia has been classified as Green List (High Evidence).",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:28:35.054480+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14003",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARHGDIA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23867502, 35060086; Phenotypes: Nephrotic syndrome, type 8 MIM#615244; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARHGDIA",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:16:27.390477+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14003",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ARHGAP31 as ready",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:16:27.378370+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14003",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: arhgap31 has been classified as Green List (High Evidence).",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:12:09.379882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14003",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ARHGAP31 were changed from to Adams-Oliver syndrome 1, MIM#100300",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:10:09.515803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14002",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ARHGAP31 were set to ",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:10:02.538781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14001",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARHGAP31 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2022-05-10T12:05:27.181305+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14000",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ARHGAP31: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 33655927, 29924900; Phenotypes: Adams-Oliver syndrome 1, MIM#100300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ARHGAP31",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:51:44.390462+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14000",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: ANXA5 as ready",
"entity_name": "ANXA5",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:51:44.380802+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14000",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: anxa5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANXA5",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:44:32.101935+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.14000",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Phenotypes for gene: ANXA5 were changed from to {Pregnancy loss, recurrent, susceptibility to, 3} MIM#614391",
"entity_name": "ANXA5",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:44:26.984465+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13999",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Publications for gene: ANXA5 were set to ",
"entity_name": "ANXA5",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:44:21.916223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13999",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Mode of inheritance for gene: ANXA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ANXA5",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:44:06.334551+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13998",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Classified gene: ANXA5 as Amber List (moderate evidence)",
"entity_name": "ANXA5",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:44:06.324320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13998",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: anxa5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ANXA5",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:43:48.596608+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13997",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Marked gene: AR as ready",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-05-10T11:43:48.585204+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13997",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "Gene: ar has been classified as Green List (High Evidence).",
"entity_name": "AR",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:26:39.174788+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYPA as ready",
"entity_name": "GYPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:26:39.163847+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gypa has been classified as Red List (Low Evidence).",
"entity_name": "GYPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:26:30.773850+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13997",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYPA were changed from to [Blood group, MNSs system] 111300",
"entity_name": "GYPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:26:07.817077+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13996",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GYPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GYPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:25:47.692673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GYPA as Red List (low evidence)",
"entity_name": "GYPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:25:47.681455+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13995",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gypa has been classified as Red List (Low Evidence).",
"entity_name": "GYPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:25:28.180775+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GYPA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, MNSs system] 111300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GYPA",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:24:00.846592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GYPB as ready",
"entity_name": "GYPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:24:00.835026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gypb has been classified as Red List (Low Evidence).",
"entity_name": "GYPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:23:52.416977+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13994",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GYPB were changed from to [Blood group, Ss] 111740",
"entity_name": "GYPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:23:31.242994+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13993",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GYPB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GYPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:23:11.855112+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GYPB as Red List (low evidence)",
"entity_name": "GYPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:23:11.843778+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13992",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gypb has been classified as Red List (Low Evidence).",
"entity_name": "GYPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:22:53.488741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GYPB: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, Ss] 111740; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "GYPB",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:21:03.013179+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAAO were set to 28792876",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:20:42.233775+10:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:20:05.200035+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.131",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAAO were set to 28792876",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:19:30.088549+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HAAO: Added comment: PMID 33942433: three additional families.; Changed publications: 28792876, 33942433",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:19:00.663827+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HAAO: Rating: GREEN; Mode of pathogenicity: None; Publications: 33942433; Phenotypes: Vertebral, cardiac, renal, and limb defects syndrome 1 MIM#617660; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:18:20.349154+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.113",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HAAO were set to 28792876",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-10T08:17:44.512839+10:00",
"panel_name": "Congenital anomalies of the kidney and urinary tract (CAKUT) Syndromic",
"panel_id": 63,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HAAO: Added comment: PMID 33942433: three additional families.; Changed publications: 28792876, 33942433",
"entity_name": "HAAO",
"entity_type": "gene"
},
{
"created": "2022-05-09T21:24:40.895679+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DSE: Rating: GREEN; Mode of pathogenicity: None; Publications: 28306229, 23704329, 25703627, 32130795; Phenotypes: Ehlers-Danlos syndrome, musculocontractural type 2 - MIM#615539; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSE",
"entity_type": "gene"
},
{
"created": "2022-05-09T21:22:52.619773+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DSG4: Rating: GREEN; Mode of pathogenicity: None; Publications: 12705872, 16439973, 16543896, 16575393, 17392831; Phenotypes: Hypotrichosis 6 - MIM#607903; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DSG4",
"entity_type": "gene"
},
{
"created": "2022-05-09T21:19:13.266251+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13991",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: DSPP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 39, with dentinogenesis - MIM#605594, Dentin dysplasia, type II - MIM#125420, Dentinogenesis imperfecta, Shields type II - MIM#125490, Dentinogenesis imperfecta, Shields type III - MIM#125500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSPP",
"entity_type": "gene"
}
]
}