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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1063",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1061",
"results": [
{
"created": "2022-01-05T11:20:14.500248+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1810",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXRED1 were changed from MITOCHONDRIAL COMPLEX I DEFICIENCY to Mitochondrial complex I deficiency, nuclear type 19 MIM#618241",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:10.208820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1809",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: 16055927, 17244376, 22797137; Phenotypes: 3-methylglutaconic aciduria, type V MIM#610198; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAJC19",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:20:00.746015+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1809",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXRED1 were set to ",
"entity_name": "FOXRED1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:19:50.190769+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "1.5",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "gene: SGPL1 was added\ngene: SGPL1 was added to Combined Immunodeficiency. Sources: Expert Review,Literature\nMode of inheritance for gene: SGPL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SGPL1 were set to 33074640\nPhenotypes for gene: SGPL1 were set to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575\nReview for gene: SGPL1 was set to GREEN\ngene: SGPL1 was marked as current diagnostic\nAdded comment: From Gene Reviews: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is characterized by varying combinations of steroid-resistant nephrotic syndrome (ranging from nonimmune fetal hydrops to adolescent onset), primary adrenal insufficiency (with or without mineralocorticoid deficiency), testicular insufficiency, hypothyroidism, ichthyosis, lymphopenia/immunodeficiency, and neurologic abnormalities that can include developmental delay, regression / progressive neurologic involvement, cranial nerve deficits, and peripheral motor and sensory neuropathy. Steroid-resistant nephrotic syndrome (37/46), Immunodeficiency (31/46), Primary adrenal insufficiency (31/46), cryptorchidism and/or micropenis (6/26), Developmental delay (9/46), Regression/progressive neurologic involvement (6/46), Peripheral motor & sensory neuropathy (5/46). Other symptoms include ichthyosis, SNHL, Hypothyroidism. \nSources: Expert Review, Literature",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:18:58.965194+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1808",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:18:46.393002+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.216",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:15:14.511379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:15:14.500310+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:14:58.196545+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNAJB11 as ready",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:14:58.185895+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb11 has been classified as Green List (High Evidence).",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:14:52.985076+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10477",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SGPL1 were set to ",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:14:08.699880+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1808",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNAJB11 were set to ",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:13:54.880102+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1807",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNAJB11 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:13:54.037673+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10476",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:13:40.959396+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: DNAJB11 as Green List (high evidence)",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:13:40.948754+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1806",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnajb11 has been classified as Green List (High Evidence).",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:12:47.299476+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10475",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome, Nephrotic syndrome, type 14, MIM#617575; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:08:55.727444+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRIG2 as ready",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:08:55.716759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrig2 has been classified as Green List (High Evidence).",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:08:51.126854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1805",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRIG2 were changed from UROFACIAL SYNDROME to Urofacial syndrome 2 (MIM#615112)",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:08:36.623159+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1804",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRIG2 were set to ",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:08:23.458477+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LRIG2 as Green List (high evidence)",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:08:23.448762+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1803",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrig2 has been classified as Green List (High Evidence).",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:06:13.144887+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4404",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: SGPL1 were set to ",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:04:05.427664+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4403",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SGPL1 as ready",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T11:04:05.415686+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4403",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sgpl1 has been classified as Green List (High Evidence).",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T10:59:52.935162+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4403",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SGPL1 were changed from to Sphingosine Phosphate Lyase Insufficiency Syndrome; Nephrotic syndrome, type 14, MIM#617575",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T10:56:46.225300+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4402",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: SGPL1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T10:54:11.684403+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4401",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SGPL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 33074640; Phenotypes: Sphingosine Phosphate Lyase Insufficiency Syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "SGPL1",
"entity_type": "gene"
},
{
"created": "2022-01-05T10:52:54.759302+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1802",
"user_name": "Belinda Chong",
"item_type": "entity",
"text": "reviewed gene: DNAJB11: Rating: GREEN; Mode of pathogenicity: None; Publications: 29706351, 29777155, 33129895, 34177435; Phenotypes: Polycystic kidney disease 6 with or without polycystic liver disease, MIM#618061, Ivermark II syndrome.; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "DNAJB11",
"entity_type": "gene"
},
{
"created": "2022-01-05T10:31:43.972994+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1802",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: LRIG2: Rating: GREEN; Mode of pathogenicity: None; Publications: 23313374, 27855655, 30885509; Phenotypes: Urofacial syndrome 2 (MIM#615112); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRIG2",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:57:20.901223+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:57:20.879651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Green List (High Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:18:05.381537+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10475",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:17:47.538646+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10474",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP3 were set to ",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:17:25.600146+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10473",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:17:05.978895+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 11295725, 11137993, 33668198, 33614561, 33330291, 32234571; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:12:51.885736+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:12:51.875338+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Green List (High Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:12:48.745899+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.216",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP3 were changed from to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:12:15.824668+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.215",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP3 were set to ",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:11:46.346739+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.214",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXP3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:11:01.287133+11:00",
"panel_name": "Hydrops fetalis",
"panel_id": 116,
"panel_version": "0.213",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: GREEN; Mode of pathogenicity: None; Publications: 33637067, 30813833, 33330291; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:10:14.881273+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXP3 as ready",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:10:14.869764+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Green List (High Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:04:35.927115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1802",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXP3 were set to 28425981",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:04:21.224143+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP3 as Green List (high evidence)",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:04:21.214195+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1801",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Green List (High Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:04:07.127799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:04:03.172866+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FOXP3: Added comment: Multiple reports of hydrops (over 10 individuals).; Changed rating: GREEN; Changed publications: 33637067, 30813833, 33330291",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:02:21.715917+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1800",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXP3 were changed from IPEX SYNDROME to Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:02:07.975009+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FOXP3 as Red List (low evidence)",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:02:07.962611+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1799",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxp3 has been classified as Red List (Low Evidence).",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:01:28.310421+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FOXP3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodysregulation, polyendocrinopathy, and enteropathy, X-linked, 304790; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "FOXP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:00:11.534320+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: FOXE3 as ready",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:00:11.522453+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: foxe3 has been classified as Green List (High Evidence).",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-04T19:00:06.573785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FOXE3 were changed from ANTERIOR SEGMENT MESENCHYMAL DYSGENESIS; Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968; {Aortic aneurysm, familial thoracic 11, susceptibility to}, OMIM:617349 CONGENITAL PRIMARY APHAKIA to Anterior segment dysgenesis 2, multiple subtypes, OMIM:610256; Cataract 34, multiple types, OMIM:612968",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:59:30.980757+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: FOXE3 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:58:46.316161+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: FOXE3 were set to ",
"entity_name": "FOXE3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:56:15.974879+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMP3 as ready",
"entity_name": "MMP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:56:15.963434+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp3 has been classified as Red List (Low Evidence).",
"entity_name": "MMP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:56:08.372112+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10472",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MMP3 were changed from to {Coronary heart disease, susceptibility to, 6} 614466",
"entity_name": "MMP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:55:48.900413+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10471",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MMP3 were set to ",
"entity_name": "MMP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:55:28.787279+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMP3 as Red List (low evidence)",
"entity_name": "MMP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:55:28.777905+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10470",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmp3 has been classified as Red List (Low Evidence).",
"entity_name": "MMP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:54:36.440883+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PI4KA were set to 25855803",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:53:38.728209+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PI4KA were set to 25855803",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:53:04.187032+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PI4KA as Green List (high evidence)",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:53:04.176466+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pi4ka has been classified as Green List (High Evidence).",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:41:08.151276+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10469",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: MMP3: Rating: RED; Mode of pathogenicity: None; Publications: 12750310, 10351963; Phenotypes: {Coronary heart disease, susceptibility to, 6} 614466; Mode of inheritance: Unknown; Current diagnostic: yes",
"entity_name": "MMP3",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:14:30.762743+11:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.167",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PI4KA: Rating: AMBER; Mode of pathogenicity: None; Publications: 34415322; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-04T18:12:20.871503+11:00",
"panel_name": "Cerebellar and Pontocerebellar Hypoplasia",
"panel_id": 72,
"panel_version": "1.24",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: PI4KA: Rating: GREEN; Mode of pathogenicity: None; Publications: 34415322; Phenotypes: Polymicrogyria, perisylvian, with cerebellar hypoplasia and arthrogryposis, MIM# 616531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "PI4KA",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:19:48.676679+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1795",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:LRAT from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T16:19:04.113746+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRAT as ready",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:19:04.100498+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrat has been classified as Green List (High Evidence).",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:18:55.387422+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10469",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRAT were changed from to Leber congenital amaurosis 14 MIM#613341; Retinal dystrophy, early-onset severe MIM#613341; Retinitis pigmentosa, juvenile MIM#613341",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:18:30.645771+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10468",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRAT were set to ",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:17:41.062196+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10467",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LRAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:17:18.011421+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LRAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 11381255, 18055821, 22570351, 17011878, 29973277, 24625443, 22559933, 31448181; Phenotypes: Leber congenital amaurosis 14 MIM#613341, Retinal dystrophy, early-onset severe MIM#613341, Retinitis pigmentosa, juvenile MIM#613341; Mode of inheritance: None",
"entity_name": "LRAT",
"entity_type": "gene"
},
{
"created": "2022-01-04T16:13:41.840150+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1794",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:LIPN from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2022-01-04T13:50:56.769463+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.150",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 24706940\r\n2x families.\r\nThe first, maternally inherited splice and a de novo splice\r\nThe second is a consaguineous family was a hom nonsense but DNA from deceased infant and parents were sequenced\r\n\r\nPMID: 32827718\r\n1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant; to: PMID: 24706940\r\n2x families.\r\nThe first, maternally inherited splice and a de novo splice\r\nThe second is a consaguineous family was a hom nonsense but DNA from deceased infant was unavailable and parents were sequenced\r\n\r\nPMID: 32827718\r\n1x consaguineous family with 2x infants who died within first week of life. Hom for a fs variant",
"entity_name": "GPX4",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:19:44.955944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GZF1 as ready",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:19:44.946688+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gzf1 has been classified as Green List (High Evidence).",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:19:30.074566+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GZF1 were set to ",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:19:09.057029+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GZF1 as Green List (high evidence)",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:19:09.047215+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gzf1 has been classified as Green List (High Evidence).",
"entity_name": "GZF1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:18:43.076636+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSC as ready",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:18:43.063973+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsc has been classified as Green List (High Evidence).",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:18:18.739439+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1791",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSC were set to ",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:18:06.389049+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSC as Green List (high evidence)",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:18:06.378609+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1790",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gsc has been classified as Green List (High Evidence).",
"entity_name": "GSC",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:15:21.520256+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM1 as ready",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:15:21.509648+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm1 has been classified as Green List (High Evidence).",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:15:12.622717+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10466",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRM1 were changed from to Spinocerebellar ataxia 44 MIM#617691; Spinocerebellar ataxia, autosomal recessive 13 MIM#614831",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:14:52.672805+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10465",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRM1 were set to ",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:13:39.359006+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10464",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GRM1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:12:58.425005+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRM1 as ready",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:12:58.414597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grm1 has been classified as Red List (Low Evidence).",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:12:54.433286+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1789",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRM1 were changed from CONGENITAL CEREBELLAR ATAXIA to Spinocerebellar ataxia, autosomal recessive 13 MIM#614831",
"entity_name": "GRM1",
"entity_type": "gene"
},
{
"created": "2022-01-04T13:11:58.126909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.1788",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRM1 were set to ",
"entity_name": "GRM1",
"entity_type": "gene"
}
]
}