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{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1000",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=998",
"results": [
{
"created": "2022-02-11T12:58:56.906271+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ABHD16A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 86, autosomal recessive, MIM# 619735; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABHD16A",
"entity_type": "gene"
},
{
"created": "2022-02-11T09:44:59.871662+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SLC52A2: Rating: RED; Mode of pathogenicity: None; Publications: 10797435, 22740598, 22864630; Phenotypes: Brown-Vialetto-Van Laere syndrome 2 (MIM#614707); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC52A2",
"entity_type": "gene"
},
{
"created": "2022-02-11T08:52:08.181327+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SLC4A4: Rating: RED; Mode of pathogenicity: None; Publications: 10545938, 11274232; Phenotypes: Renal tubular acidosis, proximal, with ocular abnormalities (MIM#604278); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC4A4",
"entity_type": "gene"
},
{
"created": "2022-02-11T08:31:32.922625+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SLC39A13: Rating: RED; Mode of pathogenicity: None; Publications: 18985159, 18513683, 28306229, 28306225; Phenotypes: Ehlers-Danlos syndrome, spondylodysplastic type, 3 (MIM#612350); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC39A13",
"entity_type": "gene"
},
{
"created": "2022-02-10T21:19:04.079549+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.172",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "reviewed gene: ZBTB24: Rating: RED; Mode of pathogenicity: None; Publications: 32865561, 21596365, 29023266, 32061411, 21906047, 28128455, 23739126, 22786748; Phenotypes: Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-10T21:16:32.312713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: ZBTB24 was added\ngene: ZBTB24 was added to Fetal anomalies. Sources: Literature\nMode of inheritance for gene: ZBTB24 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ZBTB24 were set to 32865561; 21596365; 29023266; 32061411; 21906047; 28128455; 23739126; 22786748\nPhenotypes for gene: ZBTB24 were set to Immunodeficiency-centromeric instability-facial anomalies syndrome 2 - MIM#614069\nReview for gene: ZBTB24 was set to GREEN\nAdded comment: Well reported association with ICF2 (immunodeficiency-centromeric instability facial anomalies syndrome 2). Patients have immunodeficiency (mainly hypo/agammaglobulinemia in the presence of B cells), recurrent infections (namely respiratory and gastrointestinal) and dysmorphic facies. \r\n\r\nAlthough antenatal features not thoroughly described for published cases, low birth weight has been a reported feature as well as hypertelorism and micrognathia/retrognathia - these have the potential to be detected prenatally. \r\n\r\nPMID 32865561 Helfricht et al 2020 - \"loss of ZBTB24 in B cells from mice and ICF2 patients affects nonhomologous end-joining (NHEJ) during immunoglobulin class-switch recombination and consequently impairs immunoglobulin production and isotype balance\".\r\n\r\nPMID 32061411 Banday. et al 2020 - report a patient with this condition and granulomatous hepatitis. Review phenotype of previously reported patients, low birth weight and facial dysmorphism including micrognathia noted in other cases.\r\n\r\nPMID 29023266 Conrad et al 2017 - describe a 17 month old boy with recurrent infections, growth failure, facial anomalies (including hyperterlorism/low set ears), and inflammatory bowel disease. No antenatal information.\r\n\r\nPMID 28128455 van den Boogaard 2017 - 5 new patients described\r\n\r\nPMID 23739126 Nitta et al 2013 - report 3 unrelated patients, x1 patient - lower birth weight and head circumference. At age 5 had macrocephaly, hyperterlorism. Noted to have bilateral hydronephrosis. x1 patient BW 2660g, micrognathia, hyperterlorism.\r\n\r\nPMID 21906047 Chouery et al 2012 - 3 siblings from a Lebanese family with novel homozygous LoF variant. Apparently normal pregnancies, at time of diagnostic assessment HC between the 5th and 15th centiles, height below the 5th percentile. Dysmorphic features including high arched palate, small chin, retrognathism and everted lower lips. \r\n\r\nPMID 22786748 Cerbone et al 2012 - report an 8 year old M of consanguineous Moroccan ancestry with ID, dysmorphic features, cafe au last macules and a large arachnoid cyst in the right temporal region, causing compression of the temporal lobe and lateral ventricle\r\n\r\nPMID 21596365 de Greef et al 2011 - report 4 new unrelated patients, no antenatal information \nSources: Literature",
"entity_name": "ZBTB24",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:12:13.564337+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SLC25A26: Rating: AMBER; Mode of pathogenicity: None; Publications: 26522469; Phenotypes: Combined oxidative phosphorylation deficiency 28 (MIM#616794); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A26",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:04:37.166857+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EHMT1 as ready",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:04:37.154437+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:04:31.634349+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EHMT1 as Amber List (moderate evidence)",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:04:31.625331+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ehmt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:03:25.284156+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC19A3 as ready",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:03:25.272557+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc19a3 has been classified as Red List (Low Evidence).",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:03:21.517984+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC19A3 were changed from THIAMINE METABOLISM DYSFUNCTION SYNDROME 2 to Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (MIM#607483)",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:03:08.484722+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC19A3 were set to ",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:02:28.077847+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIX1 as ready",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:02:28.063785+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: six1 has been classified as Red List (Low Evidence).",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:02:23.820537+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIX1 were changed from BRANCHIOOTIC SYNDROME TYPE 3; DEAFNESS AUTOSOMAL DOMINANT TYPE 23 to Deafness, autosomal dominant 23 (MIM# 605192); Branchiootic syndrome 3 (MIM# 608389)",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:02:06.113685+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIX1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:01:53.133588+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Branchiootic syndrome 3, MIM# 608389; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T16:01:09.294597+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.104",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: EHMT1 was added\ngene: EHMT1 was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: EHMT1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: EHMT1 were set to PMID: 29228531; 28361100; 21910222; 19264732\nPhenotypes for gene: EHMT1 were set to Kleefstra syndrome 1 MIM#610253\nReview for gene: EHMT1 was set to AMBER\nAdded comment: OMIM/PMID: 29228531/PMID: 21910222 - microcephaly describes as a feature of kleefstra syndrome\r\n\r\nPMID: 28361100 - 18-year-old woman with intellectual disability, severely limited speech, hypotonia, microcephaly, and facial dysmorphisms, de novo single-base frameshift deletion\r\n\r\nPMID: 19264732 - Microcephaly was noted in 6/15 patients with a deletion and 2/6 cases with a \"mutation and was already present at birth\" unclear what mutations these are\r\n\r\nCommon cause of disease is a microdeletion of 9q34.3, in which microcephaly is commonly reported. \r\n\r\nAmber due to inconsistent reports in SNV cases. \nSources: Literature",
"entity_name": "EHMT1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:59:52.330799+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIM1 as ready",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:59:52.320658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sim1 has been classified as Red List (Low Evidence).",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:59:45.682192+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3275",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIM1 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:59:01.067457+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SIK1 as ready",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:59:01.009500+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sik1 has been classified as Red List (Low Evidence).",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:58:56.296658+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3274",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SIK1 were changed from NEONATAL EPILEPSY SPECTRUM to Developmental and epileptic encephalopathy 30 (MIM#616341)",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:58:42.724364+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3273",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SIK1 were set to ",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:58:31.243886+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3272",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SIK1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:57:54.169348+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SDHA as ready",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:57:54.160119+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdha has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:57:49.911454+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3271",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SDHA were changed from LEIGH SYNDROME to Cardiomyopathy, dilated, 1GG (MIM#613642); Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011)",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:57:37.490269+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3270",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SDHA were set to ",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:57:23.211850+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SDHA as Amber List (moderate evidence)",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:57:23.202939+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3269",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sdha has been classified as Amber List (Moderate Evidence).",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:54:08.715165+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HMX1 as ready",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:54:08.701017+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmx1 has been classified as Green List (High Evidence).",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:54:03.911997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3268",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HMX1 were changed from OCULOAURICULAR SYNDROME to Oculoauricular syndrome, MIM#612109",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:53:49.244531+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HMX1 as Green List (high evidence)",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:53:49.232759+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3267",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hmx1 has been classified as Green List (High Evidence).",
"entity_name": "HMX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:53:21.109439+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H4C as ready",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:53:21.099597+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:53:16.993586+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HIST1H4C were changed from HIST1H4C to Growth delay, microcephaly and intellectual disability",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:53:04.425426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H4C were set to ",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:52:52.680402+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H4C was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:51:29.204356+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H4C as Green List (high evidence)",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:51:29.189856+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h4c has been classified as Green List (High Evidence).",
"entity_name": "HIST1H4C",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:42:05.620594+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3262",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SLC19A3: Rating: RED; Mode of pathogenicity: None; Publications: 23423671, 24878502, 19387023, 20065143; Phenotypes: Thiamine metabolism dysfunction syndrome 2 (biotin- or thiamine-responsive encephalopathy type 2) (MIM#607483); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC19A3",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:05:58.655258+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HIST1H1E as ready",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:05:58.638619+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h1e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:05:53.848673+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HIST1H1E were set to ",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:05:41.701968+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HIST1H1E was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:05:30.568294+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HIST1H1E as Green List (high evidence)",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:05:30.557970+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hist1h1e has been classified as Green List (High Evidence).",
"entity_name": "HIST1H1E",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:04:36.261794+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HGSNAT as ready",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:04:36.251951+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Red List (Low Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:04:32.040219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HGSNAT were changed from MUCOPOLYSACCHARIDOSIS TYPE 3C to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM# 252930; MONDO:0009657",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:04:17.690171+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HGSNAT were set to ",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:04:05.183375+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HGSNAT as Red List (low evidence)",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:04:05.172056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hgsnat has been classified as Red List (Low Evidence).",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:03:53.185460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HGSNAT: Changed rating: RED",
"entity_name": "HGSNAT",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:03:17.505135+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HESX1 as ready",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:03:17.495303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Green List (High Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:03:13.026472+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HESX1 were set to ",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:03:00.363426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HESX1 as Green List (high evidence)",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:03:00.340357+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hesx1 has been classified as Green List (High Evidence).",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:02:47.919695+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Variants in this gene are associated with a spectrum of abnormalities: isolated pituitary deficiency through to septo-optic dysplasia. Optic nerve hypoplasia reported as part of this rather than AMC.; to: Variants in this gene are associated with a spectrum of abnormalities including corpus callosum abnormalities and hand abnormalities.",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T15:02:27.008386+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: HESX1: Changed rating: GREEN; Changed phenotypes: Septooptic dysplasia, MIM# 182230, Pituitary hormone deficiency, combined, 5, MIM# 182230",
"entity_name": "HESX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:56:31.686094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SIX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal dominant 23 (MIM# 605192), Branchiootic syndrome 3 (MIM# 608389); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIX1",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:42:39.051787+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SIM1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIM1",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:41:16.836620+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HADHB as ready",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:41:16.825836+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:41:08.381538+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HADHB as Green List (high evidence)",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:41:08.370426+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hadhb has been classified as Green List (High Evidence).",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:40:47.064545+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: ID is part of the phenotype.; to: SGA and cardiomyopathy reported.",
"entity_name": "HADHB",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:39:05.462080+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GTF2E2 as ready",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:39:05.450891+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Red List (Low Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:39:00.254284+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3253",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GTF2E2 were changed from DNA Repair-Proficient Trichothiodystrophy to Trichothiodystrophy 6, nonphotosensitive, MIM #616943",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:38:42.097606+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3252",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GTF2E2 were set to ",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:38:28.498510+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GTF2E2 as Red List (low evidence)",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:38:28.472750+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3251",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gtf2e2 has been classified as Red List (Low Evidence).",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:38:15.064211+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: GTF2E2: Microcephaly reported but onset uncertain. Craniosynostosis in one individual.",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:37:50.875998+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: GTF2E2: Changed rating: RED",
"entity_name": "GTF2E2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:36:50.377748+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3250",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SIK1: Rating: RED; Mode of pathogenicity: None; Publications: 25839329; Phenotypes: Developmental and epileptic encephalopathy 30 (MIM#616341); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SIK1",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:36:40.108494+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSPT2 as ready",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:36:40.098257+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Red List (Low Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:34:42.470901+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.10944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GSPT2 was added\ngene: GSPT2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: GSPT2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: GSPT2 were set to 28414775\nPhenotypes for gene: GSPT2 were set to Intellectual disability\nReview for gene: GSPT2 was set to RED\nAdded comment: Gene is contained in multi-gene deletions linked to ID. \nSources: Expert Review",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:31:34.174811+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GSPT2 as ready",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:31:34.159549+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Red List (Low Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:31:30.277909+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3250",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GSPT2 were changed from XL INTELLECTUAL DISABILITY to XL intellectual disability",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:31:10.944562+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3249",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GSPT2 were set to ",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:30:57.729610+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GSPT2 as Red List (low evidence)",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:30:57.719706+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3248",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gspt2 has been classified as Red List (Low Evidence).",
"entity_name": "GSPT2",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:28:23.848373+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3247",
"user_name": "Daniel Flanagan",
"item_type": "entity",
"text": "reviewed gene: SDHA: Rating: AMBER; Mode of pathogenicity: None; Publications: 20551992, 22972948, 12794685; Phenotypes: Cardiomyopathy, dilated, 1GG (MIM#613642), Mitochondrial complex II deficiency, nuclear type 1 (MIM#252011); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SDHA",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:17:17.760138+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRIN2D as ready",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:17:17.750434+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grin2d has been classified as Red List (Low Evidence).",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:17:10.836496+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3247",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GRIN2D were changed from Severe Epileptic Encephalopathy Treatable with NMDA Receptor Channel Blockers to Epileptic encephalopathy, early infantile, 46, MIM# 617162; intellectual disability",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:16:56.523047+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3246",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GRIN2D were set to ",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T14:16:44.080048+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: GRIN2D was changed from to Other",
"entity_name": "GRIN2D",
"entity_type": "gene"
},
{
"created": "2022-02-10T13:00:04.250854+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.3244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRIN2D as Red List (low evidence)",
"entity_name": "GRIN2D",
"entity_type": "gene"
}
]
}