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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1733",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1731",
"results": [
{
"created": "2020-07-13T18:10:01.684543+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SGMS2 as Green List (high evidence)",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2020-07-13T18:10:01.676133+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: sgms2 has been classified as Green List (High Evidence).",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2020-07-13T18:09:39.067881+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: SGMS2 was added\ngene: SGMS2 was added to Osteogenesis Imperfecta. Sources: Expert list\nMode of inheritance for gene: SGMS2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SGMS2 were set to 30779713; 32028018\nPhenotypes for gene: SGMS2 were set to Calvarial doughnut lesions with bone fragility with or without spondylometaphyseal dysplasia MIM#126550\nReview for gene: SGMS2 was set to GREEN\nAdded comment: 12 patients from 6 unrelated families with the same stopgain variant (p.Arg50*), with osteoporosis that resembles osteogenesis imperfecta. In vitro over-expression assays of the variant demonstrate protein that was completely mislocalized in the cytosolic and nuclear compartments.\r\n2 unrelated families were heterozygous for 2 missense (p.Ile62Ser, p.Met64Arg) with bone fragility and severe short stature, and spondylometaphyseal dysplasia. In vitro assays of each variant demonstrated an enhanced rate of de novo sphingomyelin production by blocking export of a functional enzyme from the endoplasmic reticulum. \nSources: Expert list",
"entity_name": "SGMS2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:44:20.248964+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UNC45A as ready",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:44:20.242197+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: unc45a has been classified as Amber List (Moderate Evidence).",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:35:52.907332+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: UNC45A were changed from to cholestasis; congenital diarrhea; impaired hearing; bone fragility",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:34:21.434798+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: UNC45A were set to ",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:33:47.806726+10:00",
"panel_name": "Osteogenesis Imperfecta",
"panel_id": 147,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC45A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC45A",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:32:32.410499+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.1",
"user_name": "Seb Lunke",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-13T17:30:17.869472+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ZSWIM6 was added\ngene: ZSWIM6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ZSWIM6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ZSWIM6 were set to Neurodevelopmental disorder with movement abnormalities, abnormal gait, and autistic features (617865); Acromelic frontonasal dysostosis (603671)",
"entity_name": "ZSWIM6",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.824527+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ZIC2 was added\ngene: ZIC2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ZIC2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ZIC2 were set to 24706429\nPhenotypes for gene: ZIC2 were set to Holoprosencephaly 5 (609637)",
"entity_name": "ZIC2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.779352+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: WDR11 was added\ngene: WDR11 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: WDR11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: WDR11 were set to Hypogonadotropic hypogonadism 14 with or without anosmia (614858)",
"entity_name": "WDR11",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.735707+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TGIF1 was added\ngene: TGIF1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: TGIF1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TGIF1 were set to 23476075\nPhenotypes for gene: TGIF1 were set to Holoprosencephaly 4 (142946)",
"entity_name": "TGIF1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.687023+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC20A1 was added\ngene: SLC20A1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SLC20A1 was set to Unknown\nPhenotypes for gene: SLC20A1 were set to No OMIM number",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.639253+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SLC15A4 was added\ngene: SLC15A4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SLC15A4 was set to Unknown\nPublications for gene: SLC15A4 were set to 29261175\nPhenotypes for gene: SLC15A4 were set to No OMIM number",
"entity_name": "SLC15A4",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.597871+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SIX3 was added\ngene: SIX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: SIX3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIX3 were set to Holoprosencephaly 2 (157170)",
"entity_name": "SIX3",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.555952+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: RBM28 was added\ngene: RBM28 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: RBM28 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBM28 were set to 20231366\nPhenotypes for gene: RBM28 were set to ANE syndrome; ?Alopecia, neurologic defects, and endocrinopathy syndrome (612079)",
"entity_name": "RBM28",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.513355+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PTCH1 was added\ngene: PTCH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PTCH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PTCH1 were set to 11941477\nPhenotypes for gene: PTCH1 were set to Holoprosencephaly 7 (610828)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.470570+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PSTPIP1 was added\ngene: PSTPIP1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PSTPIP1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PSTPIP1 were set to Holoprosencephaly; Pyogenic sterile arthritis, pyoderma gangrenosum, and acne (604416)",
"entity_name": "PSTPIP1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.427178+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: POLR3A was added\ngene: POLR3A was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: POLR3A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLR3A were set to Leukodystrophy, hypomyelinating, 7, with or without oligodontia and/or hypogonadotropic hypogonadism (607694)",
"entity_name": "POLR3A",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.386115+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PAX6 was added\ngene: PAX6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: PAX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PAX6 were set to 25342853\nPhenotypes for gene: PAX6 were set to Aniridia (106210)",
"entity_name": "PAX6",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.342744+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: NODAL was added\ngene: NODAL was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NODAL were set to Holoprosencephaly; Heterotaxy, visceral, 5 (270100)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.298929+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HNRNPU was added\ngene: HNRNPU was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: HNRNPU was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: HNRNPU were set to Epileptic encephalopathy, early infantile, 54 (617391)",
"entity_name": "HNRNPU",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.257815+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HHIP was added\ngene: HHIP was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: HHIP was set to Unknown\nPhenotypes for gene: HHIP were set to No OMIM number",
"entity_name": "HHIP",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.217066+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GPR161 was added\ngene: GPR161 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GPR161 was set to Unknown\nPublications for gene: GPR161 were set to 25322266\nPhenotypes for gene: GPR161 were set to No OMIM number; pituitary stalk interruption syndrome",
"entity_name": "GPR161",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.175798+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GHRH was added\ngene: GHRH was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: GHRH was set to Unknown\nPublications for gene: GHRH were set to 15155578\nPhenotypes for gene: GHRH were set to No OMIM number; ?Isolated growth hormone deficiency due to defect in GHRF",
"entity_name": "GHRH",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.134688+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: FOXH1 was added\ngene: FOXH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: FOXH1 was set to Unknown\nPhenotypes for gene: FOXH1 were set to Holoprosencephaly; No OMIM number",
"entity_name": "FOXH1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.091817+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BMP4 was added\ngene: BMP4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: BMP4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMP4 were set to 24289245\nPhenotypes for gene: BMP4 were set to Microphthalmia, syndromic 6 (607932)",
"entity_name": "BMP4",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.048424+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BMP2 was added\ngene: BMP2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMP2 were set to 24289245\nPhenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies (617877)",
"entity_name": "BMP2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:17.005252+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: ARNT2 was added\ngene: ARNT2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Red\nMode of inheritance for gene: ARNT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ARNT2 were set to 24022475\nPhenotypes for gene: ARNT2 were set to ?Webb-Dattani syndrome (615926)",
"entity_name": "ARNT2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.962562+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TCF7L1 was added\ngene: TCF7L1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TCF7L1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TCF7L1 were set to 26764381\nPhenotypes for gene: TCF7L1 were set to No OMIM number; pituitary hormone deficiency",
"entity_name": "TCF7L1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.918948+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SHH was added\ngene: SHH was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SHH was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SHH were set to 22897141\nPhenotypes for gene: SHH were set to Microphthalmia with coloboma 5 (611638); Holoprosencephaly 3 (142945)",
"entity_name": "SHH",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.876651+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: KCNQ1 was added\ngene: KCNQ1 was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: KCNQ1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: KCNQ1 were set to 29097701\nPhenotypes for gene: KCNQ1 were set to Pituitary hormone deficiency; Long QT syndrome 1 (192500)",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.832918+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CDON was added\ngene: CDON was added to Pituitary hormone deficiency. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: CDON was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CDON were set to 21802063; 26529631\nPhenotypes for gene: CDON were set to Holoprosencephaly 11 (614226)",
"entity_name": "CDON",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.787742+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: TBX19 was added\ngene: TBX19 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: TBX19 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBX19 were set to 22170728; 11290323; 15476446\nPhenotypes for gene: TBX19 were set to Adrenocorticotropic hormone deficiency (201400)",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.747455+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SOX3 was added\ngene: SOX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SOX3 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: SOX3 were set to 24346842; 15800844; 21289259; 24737742\nPhenotypes for gene: SOX3 were set to Panhypopituitarism, X-linked (312000); Mental retardation, X-linked, with isolated growth hormone deficiency (300123)",
"entity_name": "SOX3",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.705137+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SOX2 was added\ngene: SOX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: SOX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SOX2 were set to 29371155; 16932809; 30450772\nPhenotypes for gene: SOX2 were set to Microphthalmia, syndromic 3 (206900)",
"entity_name": "SOX2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.662410+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PROP1 was added\ngene: PROP1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PROP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: PROP1 were set to Pituitary hormone deficiency, combined, 2 (262600)",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.621580+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PROKR2 was added\ngene: PROKR2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PROKR2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: PROKR2 were set to 22319038; 25678757; 25759380\nPhenotypes for gene: PROKR2 were set to Hypogonadotropic hypogonadism 3 with or without anosmia (244200)",
"entity_name": "PROKR2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.579347+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: POU1F1 was added\ngene: POU1F1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: POU1F1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: POU1F1 were set to Pituitary hormone deficiency, combined, 1 (613038)",
"entity_name": "POU1F1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.539240+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PNPLA6 was added\ngene: PNPLA6 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PNPLA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PNPLA6 were set to 25033069\nPhenotypes for gene: PNPLA6 were set to Oliver-McFarlane syndrome (275400); Spastic paraplegia 39, autosomal recessive (612020); Boucher-Neuhauser syndrome (215470)",
"entity_name": "PNPLA6",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.499373+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: PITX2 was added\ngene: PITX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: PITX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: PITX2 were set to Anterior segment dysgenesis 4 (137600); Axenfeld-Rieger syndrome, type 1 (180500)",
"entity_name": "PITX2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.458108+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: OTX2 was added\ngene: OTX2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: OTX2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: OTX2 were set to 19965921; 22715480; 18628516; 18728160\nPhenotypes for gene: OTX2 were set to Pituitary hormone deficiency, combined, 6 (613986); Microphthalmia, syndromic 5 (610125)",
"entity_name": "OTX2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.417025+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LHX4 was added\ngene: LHX4 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: LHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: LHX4 were set to 18073311; 18445675; 11567216\nPhenotypes for gene: LHX4 were set to Pituitary hormone deficiency, combined, 4 (262700)",
"entity_name": "LHX4",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.377610+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: LHX3 was added\ngene: LHX3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: LHX3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LHX3 were set to Pituitary hormone deficiency, combined, 3 (221750)",
"entity_name": "LHX3",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.337852+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: IGSF1 was added\ngene: IGSF1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: IGSF1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: IGSF1 were set to 23143598; 23966245; 26302767\nPhenotypes for gene: IGSF1 were set to Hypothyroidism, central, and testicular enlargement (300888)",
"entity_name": "IGSF1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.298283+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: HESX1 was added\ngene: HESX1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: HESX1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: HESX1 were set to 14561704; 26781211; 11136712; 16940453\nPhenotypes for gene: HESX1 were set to Growth hormone deficiency with pituitary anomalies (182230); Pituitary hormone deficiency, combined, 5 (182230)",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.259532+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GNRHR was added\ngene: GNRHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GNRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GNRHR were set to Hypogonadotropic hypogonadism 7 without anosmia (146110)",
"entity_name": "GNRHR",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.219909+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GLI3 was added\ngene: GLI3 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GLI3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GLI3 were set to 24736735; 15739154\nPhenotypes for gene: GLI3 were set to Greig cephalopolysyndactyly syndrome (175700); Pallister-Hall syndrome (146510)",
"entity_name": "GLI3",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.180681+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GLI2 was added\ngene: GLI2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GLI2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: GLI2 were set to 14581620; 25878059\nPhenotypes for gene: GLI2 were set to Culler-Jones syndrome (615849); Holoprosencephaly 9 (610829)",
"entity_name": "GLI2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.141314+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GHSR was added\ngene: GHSR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GHSR was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: GHSR were set to 19789204; 25557026\nPhenotypes for gene: GHSR were set to Growth hormone deficiency, isolated partial (615925)",
"entity_name": "GHSR",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.102473+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GHRHR was added\ngene: GHRHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GHRHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GHRHR were set to Growth hormone deficiency, isolated, type IV (618157)",
"entity_name": "GHRHR",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:16.051624+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GHR was added\ngene: GHR was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GHR was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GHR were set to Growth hormone insensitivity, partial (604271); Increased responsiveness to growth hormone (604271); Laron dwarfism (262500)",
"entity_name": "GHR",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:15.947690+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: GH1 was added\ngene: GH1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: GH1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: GH1 were set to Growth hormone deficiency, isolated, type IA (262400); Growth hormone deficiency, isolated, type IB (612781); Growth hormone deficiency, isolated, type II (173100)",
"entity_name": "GH1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:15.861135+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: FOXA2 was added\ngene: FOXA2 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FOXA2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FOXA2 were set to 28973288; 29329447; 30414530\nPhenotypes for gene: FOXA2 were set to No OMIM number; Congenital hyperinsulinism; Congenital hypopituitarism",
"entity_name": "FOXA2",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:15.755853+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: FGFR1 was added\ngene: FGFR1 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FGFR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FGFR1 were set to 22319038; 25759380\nPhenotypes for gene: FGFR1 were set to Jackson-Weiss syndrome (123150); Pfeiffer syndrome (101600); Hypogonadotropic hypogonadism 2 with or without anosmia (147950); Hartsfield syndrome (615465)",
"entity_name": "FGFR1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:15.672997+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: FGF8 was added\ngene: FGF8 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: FGF8 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: FGF8 were set to 22319038; 21832120; 20463092\nPhenotypes for gene: FGF8 were set to Hypogonadotropic hypogonadism 6 with or without anosmia (612702)",
"entity_name": "FGF8",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:15.551666+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: CHD7 was added\ngene: CHD7 was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD7 were set to Hypogonadotropic hypogonadism 5 with or without anosmia (612370); CHARGE syndrome (214800)",
"entity_name": "CHD7",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:15.427579+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: BTK was added\ngene: BTK was added to Pituitary hormone deficiency. Sources: Genomics England PanelApp,Expert Review Green\nMode of inheritance for gene: BTK was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: BTK were set to 9554752; 8013627; 7849697\nPhenotypes for gene: BTK were set to Isolated growth hormone deficiency, type III, with agammaglobulinemia (307200)",
"entity_name": "BTK",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:30:15.327947+10:00",
"panel_name": "Pituitary hormone deficiency",
"panel_id": 3236,
"panel_version": "0.0",
"user_name": "Seb Lunke",
"item_type": "panel",
"text": "Added panel Pituitary hormone deficiency",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-07-13T17:24:09.498037+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PTDSS1 as Green List (high evidence)",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:24:09.490835+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ptdss1 has been classified as Green List (High Evidence).",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2020-07-13T17:23:45.731706+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: PTDSS1 was added\ngene: PTDSS1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: PTDSS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PTDSS1 were set to 24241535; 29341480; 31403251\nPhenotypes for gene: PTDSS1 were set to Lenz-Majewski hyperostotic dwarfism MIM#151050\nMode of pathogenicity for gene: PTDSS1 was set to Other\nReview for gene: PTDSS1 was set to GREEN\nAdded comment: 9 unrelated patients with cutis laxa as a prominent feature of a syndromic phenotype, with 5 different de novo (or assumed de novo) heterozygous missense mutations. Gain-of-function is the established or expected mechanism of disease for these variants. \nSources: Expert list",
"entity_name": "PTDSS1",
"entity_type": "gene"
},
{
"created": "2020-07-13T16:15:51.334811+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PCSK1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23562752, 23800642, 17595246, 25272002, 27187081; Phenotypes: Obesity with impaired prohormone processing (MIM#600955); Mode of inheritance: None",
"entity_name": "PCSK1",
"entity_type": "gene"
},
{
"created": "2020-07-13T16:15:20.027892+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ATP6V1E1 as Green List (high evidence)",
"entity_name": "ATP6V1E1",
"entity_type": "gene"
},
{
"created": "2020-07-13T16:15:20.011751+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: atp6v1e1 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1E1",
"entity_type": "gene"
},
{
"created": "2020-07-13T16:14:47.871504+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ATP6V1E1 was added\ngene: ATP6V1E1 was added to Aortopathy_Connective Tissue Disorders. Sources: Expert list\nMode of inheritance for gene: ATP6V1E1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ATP6V1E1 were set to 28065471; 27023906\nPhenotypes for gene: ATP6V1E1 were set to Cutis laxa, autosomal recessive, type IIC MIM#617402\nReview for gene: ATP6V1E1 was set to GREEN\nAdded comment: 3 unrelated consanguineous families from Iran, Kuwait, and Saudi Arabia, homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa, each segregating in an affected sibling. Molecular analyses of patient tissues was supportive: complexome profiling in cultured fibroblasts showed a markedly reduced abundance of the assembled V1 domain and of the complete membrane-bound V1V0 complex. \nSources: Expert list",
"entity_name": "ATP6V1E1",
"entity_type": "gene"
},
{
"created": "2020-07-13T16:11:31.311307+10:00",
"panel_name": "Cutis Laxa",
"panel_id": 3129,
"panel_version": "0.5",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular anlayses of patient tissues was supportive. \nSources: Expert list; to: 3 unrelated consanguineous families homozygous for 2 different missense variants (L128P, R212W) with paediatric onset cutis laxa. Molecular analyses of patient tissues was supportive. \r\nSources: Expert list",
"entity_name": "ATP6V1E1",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:47:40.222668+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: MAT2A as ready",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:47:40.212261+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mat2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:47:24.205540+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: MAT2A as Amber List (moderate evidence)",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:47:24.198027+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.156",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: mat2a has been classified as Amber List (Moderate Evidence).",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:46:58.138474+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.155",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: MAT2A was added\ngene: MAT2A was added to Aortopathy_Connective Tissue Disorders. Sources: ClinGen\nMode of inheritance for gene: MAT2A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MAT2A were set to 30071989; 25557781\nPhenotypes for gene: MAT2A were set to Thoracic aortic aneurysm\nReview for gene: MAT2A was set to AMBER\nAdded comment: PMID: 25557781 - A rare missense (p.Glu344Ala) identified in a family that segregated with thoracic aortic disease and a second missense was identified in an unrelated thoracic aortic disease proband. Morpholino KO in zebrafish lead to pericardial edema and rescue by human MAT2A\r\nPMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of additional variants identified in a large (>400) unpublished aortopathy cohort. Categorised as uncertain, because it is a recently reported gene-disease association. \nSources: ClinGen",
"entity_name": "MAT2A",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:25:51.233507+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: HCN4 as ready",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:25:51.223730+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcn4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:25:13.266140+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: HCN4 as Amber List (moderate evidence)",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:25:13.256615+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.154",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: hcn4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:24:51.529964+10:00",
"panel_name": "Aortopathy_Connective Tissue Disorders",
"panel_id": 44,
"panel_version": "0.153",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: HCN4 was added\ngene: HCN4 was added to Aortopathy_Connective Tissue Disorders. Sources: ClinGen\nMode of inheritance for gene: HCN4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HCN4 were set to 30071989; 27173043\nPhenotypes for gene: HCN4 were set to Sick sinus syndrome 2 with cardiac noncompaction and ascending aorta dilation\nReview for gene: HCN4 was set to AMBER\nAdded comment: PMID: 27173043 - Dilation of the ascending aorta was detected in 20 of 26 (77%) HCN4 mutation-positive cases from 7 unrelated families in whom images could be obtained to assess the ascending aorta.\r\nPMID: 30071989 - Classified as Limited by the HTAAD GCEP, downgraded from Moderate due to the absence of aortic dissection and lack of longitudinal data on aortic growth. Categorised as uncertain, because it is a recently reported gene-disease association. \nSources: ClinGen",
"entity_name": "HCN4",
"entity_type": "gene"
},
{
"created": "2020-07-13T15:19:02.903698+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PROK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 18559922, 17054399, 17959774, 18285834; Phenotypes: Hypogonadotropic hypogonadism 4 with or without anosmia (MIM#610628); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PROK2",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:35:26.827044+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.50",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PROP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15941866, 11549703; Phenotypes: Pituitary hormone deficiency, combined, 2 (MIM#262600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PROP1",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:31:59.649118+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKR1C4 as ready",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:31:59.638244+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akr1c4 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:31:51.963012+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3307",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKR1C4 were changed from to {46XY sex reversal 8, modifier of}, MIM# 614279",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:31:25.354027+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKR1C4 were set to ",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:31:09.828062+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3305",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKR1C4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:30:51.214289+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKR1C4 as Red List (low evidence)",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:30:51.205882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3304",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akr1c4 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:30:34.794343+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3303",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKR1C4: Rating: RED; Mode of pathogenicity: None; Publications: 21802064; Phenotypes: {46XY sex reversal 8, modifier of}, MIM# 614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:29:41.525735+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKR1C4 as ready",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:29:41.518382+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akr1c4 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:29:39.296027+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKR1C4 were changed from to {46XY sex reversal 8, modifier of}, MIM# 614279",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:29:18.722247+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKR1C4 were set to ",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:28:57.983533+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AKR1C4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:28:38.913000+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: AKR1C4 as Red List (low evidence)",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:28:38.903467+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akr1c4 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:28:17.501095+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AKR1C4: Rating: RED; Mode of pathogenicity: None; Publications: 21802064; Phenotypes: {46XY sex reversal 8, modifier of}, MIM# 614279; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AKR1C4",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:26:10.085521+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AKR1C2 as ready",
"entity_name": "AKR1C2",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:26:10.075577+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: akr1c2 has been classified as Red List (Low Evidence).",
"entity_name": "AKR1C2",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:26:07.139967+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: AKR1C2 were changed from to 46XY sex reversal 8, MIM# 614279",
"entity_name": "AKR1C2",
"entity_type": "gene"
},
{
"created": "2020-07-13T14:25:45.979217+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.45",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AKR1C2 were set to ",
"entity_name": "AKR1C2",
"entity_type": "gene"
}
]
}