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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1701",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1699",
"results": [
{
"created": "2020-07-30T18:23:44.175967+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNQ1 as ready",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:23:44.154172+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnq1 has been classified as Green List (High Evidence).",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:23:41.588855+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNQ1 were changed from to Long QT syndrome 1, MIM# 192500",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:23:28.726608+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNQ1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:23:19.923005+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 1, MIM# 192500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNQ1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:20:53.497111+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KCNH2 as ready",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:20:53.487138+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: kcnh2 has been classified as Green List (High Evidence).",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:20:50.918904+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KCNH2 were changed from to Long QT syndrome 2, MIM# 613688",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:20:42.707900+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: KCNH2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:20:33.423657+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: KCNH2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Long QT syndrome 2, MIM# 613688; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "KCNH2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:19:59.683894+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HFE as ready",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:19:59.672495+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hfe has been classified as Green List (High Evidence).",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:19:54.616079+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HFE were changed from to Haemochromatosis, MIM# 235200",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:19:40.846123+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HFE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:19:31.261936+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HFE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemochromatosis, MIM# 235200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "HFE",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:18:18.291147+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLA as ready",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:18:18.278871+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gla has been classified as Green List (High Evidence).",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:18:16.158590+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GLA were changed from to Fabry disease, MIM# 301500",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:18:08.758432+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GLA was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:17:57.551416+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GLA: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Fabry disease, MIM# 301500; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "GLA",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:17:23.441365+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FBN1 as ready",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:17:23.430825+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fbn1 has been classified as Green List (High Evidence).",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:17:21.285918+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.31",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FBN1 were changed from to Marfan syndrome, MIM# 154700",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:17:12.478389+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.30",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FBN1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:17:01.804994+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FBN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Marfan syndrome, MIM# 154700; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FBN1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:16:35.485302+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSP as ready",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:16:35.474481+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsp has been classified as Green List (High Evidence).",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:16:33.719987+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.29",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSP were changed from to Arrhythmogenic right ventricular dysplasia 8, MIM# 607450; Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676; Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:16:26.136419+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSP was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:16:15.678164+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 8, MIM# 607450, Cardiomyopathy, dilated, with woolly hair and keratoderma, MIM# 605676, Dilated cardiomyopathy with woolly hair, keratoderma, and tooth agenesis, MIM# 615821; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSP",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:15:04.386473+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSG2 as ready",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:15:04.378475+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsg2 has been classified as Green List (High Evidence).",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:15:02.002677+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSG2 were changed from to Arrhythmogenic right ventricular dysplasia 10, MIM# 610193",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:14:54.079029+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSG2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:14:45.259275+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 10, MIM# 610193; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "DSG2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:14:15.763458+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DSC2 as ready",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:14:15.754395+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dsc2 has been classified as Green List (High Evidence).",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:14:13.685973+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DSC2 were changed from to Arrhythmogenic right ventricular dysplasia 11, MIM# 610476",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:14:06.525384+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DSC2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:13:56.534643+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DSC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Arrhythmogenic right ventricular dysplasia 11, MIM# 610476; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DSC2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:13:26.174907+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:13:26.165621+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:13:24.123912+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL3A1 were changed from to Ehlers-Danlos syndrome, vascular type, MIM# 130050",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:13:16.290449+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL3A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:13:07.093452+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL3A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ehlers-Danlos syndrome, vascular type, MIM# 130050; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:12:28.223169+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CACNA1S as ready",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:12:28.214705+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cacna1s has been classified as Green List (High Evidence).",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:12:22.303744+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CACNA1S were changed from to Malignant hyperthermia susceptibility 5, MIM# 601887",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:12:12.232934+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CACNA1S was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:12:02.898194+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CACNA1S: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Malignant hyperthermia susceptibility 5, MIM# 601887; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CACNA1S",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:09:56.130600+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA2 as ready",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:09:56.117865+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca2 has been classified as Green List (High Evidence).",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:09:53.877750+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA2 were changed from to Breast-ovarian cancer, familial, 2, MIM#612555",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:09:44.319910+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:09:36.067027+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 2, MIM#612555; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRCA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:08:49.605230+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BRCA1 as ready",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:08:49.595901+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: brca1 has been classified as Green List (High Evidence).",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:08:46.773672+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.17",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BRCA1 were changed from to Breast-ovarian cancer, familial, 1, MIM# 604370",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:08:39.294652+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BRCA1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:08:29.324311+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BRCA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Breast-ovarian cancer, familial, 1, MIM# 604370; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BRCA1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:07:50.243631+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BMPR1A as ready",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:07:50.221623+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bmpr1a has been classified as Green List (High Evidence).",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:07:48.263721+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BMPR1A were changed from to Polyposis, juvenile intestinal, MIM# 174900",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:07:40.399122+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.14",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: BMPR1A was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:07:30.417598+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BMPR1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Polyposis, juvenile intestinal, MIM# 174900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "BMPR1A",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:07:00.654739+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP7B as ready",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:07:00.645625+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp7b has been classified as Green List (High Evidence).",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:06:58.624528+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATP7B were changed from to Wilson disease, MIM# 277900",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:06:51.207847+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ATP7B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:06:36.452639+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ATP7B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Wilson disease, MIM# 277900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP7B",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:06:09.957116+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APOB as ready",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:06:09.947368+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apob has been classified as Green List (High Evidence).",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:06:08.225551+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.11",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APOB were changed from to Hypercholesterolemia, familial, 2, MIM# 144010",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:06:01.440489+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.10",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:05:51.989467+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APOB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypercholesterolemia, familial, 2, MIM# 144010; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:05:15.552041+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: APC as ready",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:05:15.541301+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: apc has been classified as Green List (High Evidence).",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:05:13.444889+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: APC were changed from to Adenomatous polyposis coli, MIM# 175100",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:05:04.071709+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: APC was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:04:55.613600+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: APC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Adenomatous polyposis coli, MIM# 175100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APC",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:04:22.766955+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTC1 as ready",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:04:22.756983+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actc1 has been classified as Green List (High Evidence).",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:04:20.703503+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.7",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTC1 were changed from to Cardiomyopathy, dilated, 1R, MIM# 613424; Cardiomyopathy, hypertrophic, 11, MIM# 612098; Left ventricular noncompaction 4, MIM# 613424",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:04:13.724208+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTC1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:04:04.554099+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cardiomyopathy, dilated, 1R, MIM# 613424, Cardiomyopathy, hypertrophic, 11, MIM# 612098, Left ventricular noncompaction 4, MIM# 613424; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTC1",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:02:23.223424+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTA2 as ready",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:02:23.211451+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: acta2 has been classified as Green List (High Evidence).",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:02:20.435474+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTA2 were changed from to Aortic aneurysm, familial thoracic 6, MIM# 611788",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:01:47.208497+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTA2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T18:01:37.608793+10:00",
"panel_name": "Additional findings_Adult",
"panel_id": 221,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACTA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 6, MIM# 611788; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTA2",
"entity_type": "gene"
},
{
"created": "2020-07-30T16:34:27.903166+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: KRT25 as Green List (high evidence)",
"entity_name": "KRT25",
"entity_type": "gene"
},
{
"created": "2020-07-30T16:34:27.893368+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: krt25 has been classified as Green List (High Evidence).",
"entity_name": "KRT25",
"entity_type": "gene"
},
{
"created": "2020-07-30T16:32:35.741296+10:00",
"panel_name": "Hair disorders",
"panel_id": 3269,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: KRT25 was added\ngene: KRT25 was added to Hair disorders. Sources: Expert list\nMode of inheritance for gene: KRT25 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: KRT25 were set to 26160856; 26902920; 29686323; 28899683\nPhenotypes for gene: KRT25 were set to Woolly hair, autosomal recessive 3 MIM#616760\nReview for gene: KRT25 was set to GREEN\nAdded comment: 4 unrelated families homozygous for 2 different missense variants and a single family segregating a heterozygous missense variant, with supporting in vitro functional assays. There is also supporting animal models. \nSources: Expert list",
"entity_name": "KRT25",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:40:52.504715+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: TERT: Rating: AMBER; Mode of pathogenicity: None; Publications: 32499645; Phenotypes: Dyskeratosis congenita with Variable lymphocyte numbers; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TERT",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:17:41.323173+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.106",
"user_name": "Anna Le Fevre",
"item_type": "entity",
"text": "reviewed gene: PKD1L1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31026592 (in addition to those listed below); Phenotypes: heterotaxy and congenital heart disease without pulmonary ciliary dyskinesia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PKD1L1",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:03:48.874906+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3587",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: IVNS1ABP as Green List (high evidence)",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:03:48.864865+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3587",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ivns1abp has been classified as Green List (High Evidence).",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:03:21.227047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3586",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: IVNS1ABP was added\ngene: IVNS1ABP was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IVNS1ABP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: IVNS1ABP were set to 32499645\nPhenotypes for gene: IVNS1ABP were set to Primary immunodeficiency\nReview for gene: IVNS1ABP was set to GREEN\nAdded comment: 3 unrelated families with putative loss of function variants. Case features and immunophenotyping of patient cells is suggestive of a combined immune deficiency, based on the ESID definitions of PID subtypes. \nSources: Literature",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:02:13.587600+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: IVNS1ABP as ready",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
},
{
"created": "2020-07-30T14:02:13.569618+10:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ivns1abp has been classified as Green List (High Evidence).",
"entity_name": "IVNS1ABP",
"entity_type": "gene"
}
]
}