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{
"count": 220212,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=876",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=874",
"results": [
{
"created": "2022-04-24T11:12:39.086635+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:11:56.613045+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from Neurological disorder; Deafness, autosomal dominant 84 MIM#619810 to Leukodystrophy, hypomyelinating, 24 , MIM# 619851Deafness, autosomal dominant 84 MIM#619810",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:11:05.223769+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATP11A: Changed rating: AMBER",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:10:50.639652+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:10:23.614717+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.117",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from Neurological disorder to Leukodystrophy, hypomyelinating, 24 , MIM# 619851",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:09:56.798036+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:09:18.843071+10:00",
"panel_name": "Hydrocephalus_Ventriculomegaly",
"panel_id": 115,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:08:48.785988+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP11A were changed from Neurological disorder to Leukodystrophy, hypomyelinating, 24 , MIM# 619851",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:08:30.550342+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP11A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-24T11:07:53.831592+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP11A: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Leukodystrophy, hypomyelinating, 24 , MIM# 619851; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ATP11A",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:28:13.296552+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.146",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TLR8 were set to 34981838",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:27:41.184152+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TLR8 as Green List (high evidence)",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:27:41.173972+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tlr8 has been classified as Green List (High Evidence).",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:27:04.804387+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TLR8: Rating: GREEN; Mode of pathogenicity: None; Publications: 33512449; Phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:24:55.100247+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:24:23.818755+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:24:05.826571+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure; Autoinflammatory syndrome MONDO:0019751 to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:23:39.658508+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:23:21.033603+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TLR8 were changed from Immunodeficiency; bone marrow failure to Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-23T12:22:46.120206+10:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: TLR8: Changed phenotypes: Immunodeficiency 98 with autoinflammation, X-linked, MIM# 301078",
"entity_name": "TLR8",
"entity_type": "gene"
},
{
"created": "2022-04-22T15:06:09.571373+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CEBPA were changed from Leukemia, acute myeloid, somatic MIM#601626 to Leukaemia, acute myeloid, MIM#601626",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-22T15:05:41.830627+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CEBPA were set to ",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-22T15:05:13.498767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CEBPA was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-22T15:04:51.799422+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CEBPA as Green List (high evidence)",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-22T15:04:51.784407+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cebpa has been classified as Green List (High Evidence).",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-22T15:04:31.260086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CEBPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 15575056, 32430494, 31309983; Phenotypes: Leukaemia, acute myeloid , MIM# 601626; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CEBPA",
"entity_type": "gene"
},
{
"created": "2022-04-22T15:00:03.609297+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKN2A was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T14:59:53.154842+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDKN2A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T14:59:33.016497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDKN2A as Green List (high evidence)",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T14:59:33.003920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn2a has been classified as Green List (High Evidence).",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T14:59:13.162891+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDKN2A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Melanoma, cutaneous malignant, 2} MIM#155601; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDKN2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T14:55:18.120706+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDKN1B as ready",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2022-04-22T14:55:18.104587+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdkn1b has been classified as Green List (High Evidence).",
"entity_name": "CDKN1B",
"entity_type": "gene"
},
{
"created": "2022-04-22T14:47:47.449049+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CD79B were changed from Agammaglobulinemia 6 MIM#612692 to Agammaglobulinaemia 6, MIM#612692",
"entity_name": "CD79B",
"entity_type": "gene"
},
{
"created": "2022-04-22T12:09:03.598568+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13158",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34177435, 29706351, 29777155, 33129895; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome, Prenatal Polycystic Kidney Disease; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-04-22T10:00:54.032084+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.266",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: PTPN11: Rating: GREEN; Mode of pathogenicity: None; Publications: 33686258, 33847422; Phenotypes: Noonan syndrome #163950; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTPN11",
"entity_type": "gene"
},
{
"created": "2022-04-22T09:56:19.999811+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.266",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: PMM2: Rating: GREEN; Mode of pathogenicity: None; Publications: 20638314, 21541725, 28954837; Phenotypes: Congenital disorder of glycosylation, type Ia 212065; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2022-04-22T09:37:46.503879+10:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.266",
"user_name": "Abhijit Kulkarni",
"item_type": "entity",
"text": "reviewed gene: PIEZO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23581886, 34421994, 26333996; Phenotypes: lymphatic dysplasia (GLD) (OMIM #616843),; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIEZO1",
"entity_type": "gene"
},
{
"created": "2022-04-22T09:19:38.825511+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CD320 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CD320",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:37:40.923478+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A3 as ready",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:37:40.910939+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:37:31.320086+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A3 were changed from to Gitelman syndrome, MIM# 263800",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:37:08.618482+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A3 were set to ",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:36:46.052633+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:36:25.247102+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC12A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 8528245, 11102542; Phenotypes: Gitelman syndrome, MIM# 263800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A3",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:31:03.012215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to 18387594; 18950740; 18513680; 18950740; 19574260; 21725307; 33486889",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:30:36.306616+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.; to: Multiple families reported with a range of neurological ciliopathies; zebrafish and mouse models.\r\n\r\nNote single family reported with isolated RP.",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:30:20.521814+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CC2D2A: Changed publications: 18387594, 18950740, 18513680, 18950740, 19574260, 21725307, 33486889, 30267408",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:29:56.520106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CC2D2A: Changed phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:29:20.324163+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CC2D2A as ready",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:29:20.314230+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cc2d2a has been classified as Green List (High Evidence).",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:29:17.804401+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CC2D2A were changed from Joubert syndrome 9; Meckel syndrome 6; COACH syndrome to COACH syndrome, MIM#216360; Joubert syndrome 9, MIM#612285; Meckel syndrome 6, MIM#612284; Retinitis pigmentosa 93, MIM# 619845",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:29:08.859624+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CC2D2A were set to ",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:28:56.687347+10:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CC2D2A: Rating: GREEN; Mode of pathogenicity: None; Publications: 22241855, 27081510, 30267408; Phenotypes: COACH syndrome, MIM#216360, Joubert syndrome 9, MIM#612285, Meckel syndrome 6, MIM#612284, Retinitis pigmentosa 93, MIM# 619845; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CC2D2A",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:25:09.361063+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOA1 as ready",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:25:09.349334+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apoa1 has been classified as Green List (High Evidence).",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:25:05.830166+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOA1 were changed from Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836 to Hypoalphalipoproteinaemia, primary, 2, intermediate, MIM# 619836",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:24:55.266416+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOA1 were changed from Amyloidosis, systemic nonneuronopathic, Hypoalphalipoproteinemia to Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:24:42.432439+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: APOA1 were set to ",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:24:01.883305+10:00",
"panel_name": "Dyslipidaemia",
"panel_id": 332,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOA1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16023124; Phenotypes: Hypoalphalipoproteinemia, primary, 2, intermediate, MIM# 619836; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOA1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:21:38.741496+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827; Pachygyria; Lissencephaly; Abnormality of the corpus callosum",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:21:16.413486+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827, Pachygyria, Lissencephaly, Abnormality of the corpus callosum",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:20:54.245254+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4690",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:20:15.722981+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4689",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:19:53.314640+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIDD1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:19:31.206711+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1565",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:17:36.513417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:17:13.941235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:16:54.320967+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIDD1 were changed from Global developmental delay; Intellectual disability; Seizures; Autism; Behavioral abnormality; Psychosis; Pachygyria; Lissencephaly; Abnormality of the corpus callosum to Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:16:16.466024+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PIDD1: Changed phenotypes: Intellectual developmental disorder, autosomal recessive 75, with neuropsychiatric features and variant lissencephaly, MIM# 619827",
"entity_name": "PIDD1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:15:19.988429+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC12A1 as ready",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:15:19.975343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc12a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:15:09.720033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC12A1 were changed from to Bartter syndrome, type 1, MIM# 601678",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:11:53.440932+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC12A1 were set to ",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:11:15.843868+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13150",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC12A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-04-22T07:10:48.232803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC12A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8640224, 9355073, 28095294; Phenotypes: Bartter syndrome, type 1, MIM# 601678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC12A1",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:35:07.748800+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGF23 as ready",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:35:07.738165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf23 has been classified as Green List (High Evidence).",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:32:52.693882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13149",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGF23 were changed from to autosomal dominant hypophosphatemic rickets MONDO:0008660; familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:29:42.206730+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13148",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGF23 were set to ",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:20:27.425129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13147",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9326926, 10545531, 10720084, 12970316, 20009086, 19496967; Phenotypes: Pancreatic agenesis 1 - MIM#260370 (AR), MODY, type IV - MIM#606392(AD); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDX1",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:20:15.369157+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13147",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: FGF23 was changed from to Other",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:17:25.768411+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13146",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF23 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:17:06.143428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13145",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGF5 were changed from Hypertrichosis to hypertrichosis MONDO:0019280",
"entity_name": "FGF5",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:11:35.803945+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13144",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGF14 were changed from Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:10:35.883154+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGF23: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11062477, 14966565, 15590700, 16151858, 16030159, 25378588, 34444516; Phenotypes: autosomal dominant hypophosphatemic rickets MONDO:0008660, familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome MONDO:0100251; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "FGF23",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:08:17.649575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13143",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15855260; Phenotypes: Pyruvate dehydrogenase phosphatase deficiency - MIM#608782; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDP1",
"entity_type": "gene"
},
{
"created": "2022-04-21T16:06:21.577741+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13143",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: PDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate dehydrogenase E1-beta deficiency - MIM#614111; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PDHB",
"entity_type": "gene"
},
{
"created": "2022-04-21T15:46:50.086024+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13143",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGF14 were set to ",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-21T15:32:20.481496+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13142",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGF14 were changed from Spinocerebellar ataxia 27 MIM#609307 to Spinocerebellar ataspinocerebellar ataxia type 27 MONDO:0012247; hereditary episodic ataxia MONDO:0016227xia 27 MIM#609307",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-21T15:30:02.862757+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "edited their review of gene: FGF14: Added comment: 4 families with spinocerebellar ataxia and 7 families with episodic ataxia. Supporting animal models for both SCA and EA.; Changed publications: 12123606, 12489043, 15470364, 29253853, 30017992, 32112487, 32162847; Changed phenotypes: spinocerebellar ataxia type 27 MONDO:0012247, hereditary episodic ataxia MONDO:0016227; Set current diagnostic: yes",
"entity_name": "FGF14",
"entity_type": "gene"
},
{
"created": "2022-04-21T15:28:59.026678+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FGF10 as ready",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2022-04-21T15:28:59.000637+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: fgf10 has been classified as Green List (High Evidence).",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2022-04-21T15:27:04.213756+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13141",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FGF10 were changed from to congenital alveolar dysplasia due to FGF10 MONDO:0100090; acinar dysplasia caused by mutation in FGF10 MONDO:0600017",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:56:39.997529+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13140",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: FGF10 were set to ",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:54:31.440347+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13139",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: FGF10 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:44:38.339767+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: FGF10: Rating: GREEN; Mode of pathogenicity: None; Publications: 9916808, 15654336, 16501574, 16630169, 17213838, 33967277, 30639323; Phenotypes: congenital alveolar dysplasia due to FGF10 MONDO:0100090, acinar dysplasia caused by mutation in FGF10 MONDO:0600017; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes",
"entity_name": "FGF10",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:43:42.352727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FFAR4 as ready",
"entity_name": "FFAR4",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:43:42.342292+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ffar4 has been classified as Red List (Low Evidence).",
"entity_name": "FFAR4",
"entity_type": "gene"
},
{
"created": "2022-04-21T14:19:14.221970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.13138",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: FFAR4 were changed from to {Obesity, susceptibility to} MIM#607514",
"entity_name": "FFAR4",
"entity_type": "gene"
}
]
}