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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1165",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1163",
"results": [
{
"created": "2021-10-24T18:00:04.790901+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRMT10A was added\ngene: TRMT10A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRMT10A was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRMT10A were set to Microcephaly, short stature, and impaired glucose metabolism 1",
"entity_name": "TRMT10A",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:03.770231+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIP13 was added\ngene: TRIP13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRIP13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRIP13 were set to Mosaic Variegated Aneuploidy and Wilms Tumour",
"entity_name": "TRIP13",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:02.994317+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIO was added\ngene: TRIO was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRIO was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TRIO were set to INTELLECTUAL DISABILITY",
"entity_name": "TRIO",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:01.818809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRIM32 was added\ngene: TRIM32 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRIM32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRIM32 were set to 30823891; 16606853\nPhenotypes for gene: TRIM32 were set to BARDET-BIEDL SYNDROME TYPE 11; LIMB-GIRDLE MUSCULAR DYSTROPHY TYPE 2H",
"entity_name": "TRIM32",
"entity_type": "gene"
},
{
"created": "2021-10-24T18:00:01.095565+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC12 was added\ngene: TRAPPC12 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRAPPC12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAPPC12 were set to 28777934; 32347653\nPhenotypes for gene: TRAPPC12 were set to Hydrocephaly; Encephalopathy, progressive, early-onset, with brain atrophy and spasticity, OMIM:617669; Early-onset progressive encephalopathy-hearing loss-pons hypoplasia-brain atrophy syndrome, MONDO:0044696",
"entity_name": "TRAPPC12",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:59.864738+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAPPC11 was added\ngene: TRAPPC11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRAPPC11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC11 were set to MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 2S",
"entity_name": "TRAPPC11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:59.369644+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAP1 was added\ngene: TRAP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAP1 were set to 24152966\nPhenotypes for gene: TRAP1 were set to VACTERL; CAKUT",
"entity_name": "TRAP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:58.668997+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAIP was added\ngene: TRAIP was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRAIP was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TRAIP were set to 26595769\nPhenotypes for gene: TRAIP were set to Seckel syndrome 9",
"entity_name": "TRAIP",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:58.163713+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TRAF3IP1 was added\ngene: TRAF3IP1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TRAF3IP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAF3IP1 were set to Senior-Loken syndrome 9",
"entity_name": "TRAF3IP1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:57.469734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOR1A was added\ngene: TOR1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TOR1A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TOR1A were set to 30244176; 28516161; 29053766\nPhenotypes for gene: TOR1A were set to Arthrogryposis multiplex congenita 5, OMIM:618947; Arthrogryposis multiplex congenita 5, MONDO:0100218",
"entity_name": "TOR1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:56.999369+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TOE1 was added\ngene: TOE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TOE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TOE1 were set to Pontocerebellar hypoplasia, type 7, OMIM:614969; Pontocerebellar hypoplasia type 7, MONDO:0013993",
"entity_name": "TOE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:56.468243+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNNT3 was added\ngene: TNNT3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TNNT3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TNNT3 were set to 25337069; 32779773; 21402185; 17194691; 19142688\nPhenotypes for gene: TNNT3 were set to Arthrogryposis, distal, type 2B2, OMIM:618435; Arthrogryposis, distal, type 2B2, MONDO:0032750\nMode of pathogenicity for gene: TNNT3 was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments",
"entity_name": "TNNT3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:55.763387+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TNFRSF13B was added\ngene: TNFRSF13B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TNFRSF13B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TNFRSF13B were set to IMMUNODEFICIENCY, COMMON VARIABLE, 2",
"entity_name": "TNFRSF13B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:55.269933+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMX2 was added\ngene: TMX2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31586943; 31735293; 31270415\nPhenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, MONDO:0032887; Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity, OMIM:618730",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:54.645291+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMTC3 was added\ngene: TMTC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMTC3 were set to Cobblestone Lissencephaly",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:54.147789+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM98 was added\ngene: TMEM98 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TMEM98 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: TMEM98 were set to 24852644; 26392740\nPhenotypes for gene: TMEM98 were set to Nanophthalmos 4, MONDO:0014426; Nanophthalmos 4, OMIM:615972",
"entity_name": "TMEM98",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:53.446079+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM38B was added\ngene: TMEM38B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TMEM38B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM38B were set to 23054245; 23316006\nPhenotypes for gene: TMEM38B were set to Osteogenesis imperfecta, type XIV, OMIM:615066; Osteogenesis imperfecta type 14, MONDO:0014029",
"entity_name": "TMEM38B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:52.950071+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM260 was added\ngene: TMEM260 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TMEM260 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM260 were set to 34612517; 28318500\nPhenotypes for gene: TMEM260 were set to Structural heart defects and renal anomalies syndrome, OMIM:617478; Structural heart defects and renal anomalies syndrome, MONDO:0044321",
"entity_name": "TMEM260",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:52.255452+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM216 was added\ngene: TMEM216 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TMEM216 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM216 were set to 20512146; 20036350\nPhenotypes for gene: TMEM216 were set to Meckel syndrome 2, OMIM:603194; Meckel syndrome, type 2, MONDO:0011296",
"entity_name": "TMEM216",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:51.756022+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEM107 was added\ngene: TMEM107 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TMEM107 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEM107 were set to 26595381; 26123494; 26518474; 23523602\nPhenotypes for gene: TMEM107 were set to Joubert syndrome 29, OMIM:617562; Orofaciodigital syndrome 16, MONDO:0033045; Meckel syndrome 13, MONDO:0033044; Orofaciodigital syndrome XVI, OMIM:617563; Meckel syndrome 13, OMIM:617562",
"entity_name": "TMEM107",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:51.056616+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TKT was added\ngene: TKT was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TKT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TKT were set to Short Stature, Developmental Delay, and Congenital Heart Defects",
"entity_name": "TKT",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:50.560065+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: THOC2 was added\ngene: THOC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: THOC2 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: THOC2 were set to MENTAL RETARDATION, X-LINKED 12",
"entity_name": "THOC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:49.857834+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TENM3 was added\ngene: TENM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TENM3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TENM3 were set to 22766609; 27103084; 30513139; 29753094\nPhenotypes for gene: TENM3 were set to Microphthalmia, isolated, with coloboma 9, MONDO:0014059; Microphthalmia, syndromic 15, OMIM:615145; ?Microphthalmia, isolated, with coloboma 9, OMIM:615145",
"entity_name": "TENM3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:49.362460+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TELO2 was added\ngene: TELO2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TELO2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TELO2 were set to TELO2-related intellectual disability-neurodevelopmental disorder, MONDO:0014848; You-Hoover-Fong syndrome, OMIM:616954",
"entity_name": "TELO2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:48.665222+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TECPR2 was added\ngene: TECPR2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TECPR2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TECPR2 were set to HEREDITARY SPASTIC PARAPARESIS",
"entity_name": "TECPR2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:48.163406+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCTEX1D2 was added\ngene: TCTEX1D2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TCTEX1D2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TCTEX1D2 were set to 28475963; 26044572; 25830415\nPhenotypes for gene: TCTEX1D2 were set to Jeune asphyxiating thoracic dystrophy; Short-rib thoracic dysplasia 17 with or without polydactyly, MONDO:0054565; JATD; Short-rib thoracic dysplasia 17 with or without polydactyly, OMIM:617405",
"entity_name": "TCTEX1D2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:47.463820+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCF20 was added\ngene: TCF20 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TCF20 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TCF20 were set to TCF20 syndrome; Developmental delay with variable intellectual impairment and behavioral abnormalities 618430",
"entity_name": "TCF20",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:46.980070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBX22 was added\ngene: TBX22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TBX22 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: TBX22 were set to 22784330\nPhenotypes for gene: TBX22 were set to CLEFT PALATE, X-LINKED; ?Abruzzo-Erickson syndrome, 302905",
"entity_name": "TBX22",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:46.263303+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBR1 was added\ngene: TBR1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TBR1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: TBR1 were set to AUTISM",
"entity_name": "TBR1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:45.764198+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TBC1D32 was added\ngene: TBC1D32 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TBC1D32 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D32 were set to 32573025; 32060556; 31130284\nPhenotypes for gene: TBC1D32 were set to OFD IX",
"entity_name": "TBC1D32",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:45.078395+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAF13 was added\ngene: TAF13 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TAF13 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAF13 were set to Autosomal-Recessive Intellectual Disability and Microcephaly",
"entity_name": "TAF13",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:44.646219+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TACR3 was added\ngene: TACR3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TACR3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TACR3 were set to HYPOGONADOTROPIC HYPOGONADISM",
"entity_name": "TACR3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:43.951789+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TACO1 was added\ngene: TACO1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TACO1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TACO1 were set to LEIGH SYNDROME DUE TO MITOCHONDRIAL COMPLEX IV DEFICIENCY",
"entity_name": "TACO1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:43.457598+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TAC3 was added\ngene: TAC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: TAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TAC3 were set to HYPOGONADOTROPIC HYPOGONADISM",
"entity_name": "TAC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:42.748503+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SZT2 was added\ngene: SZT2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SZT2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SZT2 were set to INFANTILE ENCEPHALOPATHY WITH EPILEPSY AND DYSMORPHIC CORPUS CALLOSUM",
"entity_name": "SZT2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:42.259898+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYNE1 was added\ngene: SYNE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SYNE1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SYNE1 were set to 27782104; 19542096; 24319099\nPhenotypes for gene: SYNE1 were set to Arthrogryposis multiplex congenita 3, myogenic type, OMIM:618484; Arthrogryposis multiplex congenita 3, myogenic type, MONDO:0032778",
"entity_name": "SYNE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:41.551920+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SYN1 was added\ngene: SYN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SYN1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SYN1 were set to EPILEPSY, X-LINKED, WITH VARIABLE LEARNING DISABILITIES AND BEHAVIOR DISORDERS",
"entity_name": "SYN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:41.056210+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SULT2B1 was added\ngene: SULT2B1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SULT2B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SULT2B1 were set to 28575648\nPhenotypes for gene: SULT2B1 were set to Ichthyosis, congenital, autosomal recessive 14, OMIM:617571; Ichthyosis, congenital, autosomal recessive 14, MONDO:0033091",
"entity_name": "SULT2B1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:40.359877+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SUFU was added\ngene: SUFU was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SUFU was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: SUFU were set to 21289193; 33024317; 28965847\nPhenotypes for gene: SUFU were set to Joubert syndrome 32, OMIM:\t617757; Joubert Syndrome with Cranio-facial and Skeletal Defects",
"entity_name": "SUFU",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:39.858276+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STX1B was added\ngene: STX1B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: STX1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: STX1B were set to GENERALIZED EPILEPSY WITH FEBRILE SEIZURES PLUS, TYPE 9",
"entity_name": "STX1B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:39.159056+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STRADA was added\ngene: STRADA was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: STRADA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STRADA were set to Polyhydramnios, megalencephaly, and symptomatic epilepsy, OMIM:611087; Polyhydramnios, megalencephaly, and symptomatic epilepsy, MONDO:0012611",
"entity_name": "STRADA",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:38.660311+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STIL was added\ngene: STIL was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: STIL was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STIL were set to 29230157\nPhenotypes for gene: STIL were set to Microcephaly 7, primary, autosomal recessive, MONDO:0012989; Microcephaly 7, primary, autosomal recessive, OMIM:612703",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:37.946433+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAT5B was added\ngene: STAT5B was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: STAT5B was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: STAT5B were set to GROWTH HORMONE INSENSITIVITY WITH IMMUNODEFICIENCY",
"entity_name": "STAT5B",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:37.455023+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: STAC3 was added\ngene: STAC3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: STAC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: STAC3 were set to 30168660\nPhenotypes for gene: STAC3 were set to Bailey-Bloch congenital myopathy, MONDO:0009722; Myopathy, congenital, Baily-Bloch, OMIM:255995",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:36.757809+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST3GAL5 was added\ngene: ST3GAL5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ST3GAL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL5 were set to AMISH INFANTILE EPILEPSY SYNDROME",
"entity_name": "ST3GAL5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:36.262864+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST3GAL3 was added\ngene: ST3GAL3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ST3GAL3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST3GAL3 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 12",
"entity_name": "ST3GAL3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:35.564070+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ST14 was added\ngene: ST14 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: ST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ST14 were set to Ichthyosis, congenital, autosomal recessive 11, OMIM:602400; Autosomal recessive congenital ichthyosis 11, MONDO:0011218",
"entity_name": "ST14",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:35.071130+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRP54 was added\ngene: SRP54 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SRP54 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SRP54 were set to Syndromic neutropenia with Shwachman-Diamond-like features",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:34.651592+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPTAN1 was added\ngene: SPTAN1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SPTAN1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPTAN1 were set to EPILEPTIC ENCEPHALOPATHY EARLY INFANTILE TYPE 5",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:33.953482+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPECC1L was added\ngene: SPECC1L was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SPECC1L was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SPECC1L were set to ?Facial clefting, oblique, 1, OMIM:600251; Hypertelorism, Teebi type, MONDO:0007780; Opitz GBBB syndrome, type II, OMIM:145410; Autosomal dominant Opitz G/BBB syndrome, MONDO:0007779; Tessier number 4 facial cleft, MONDO:0010850; Hypertelorism, Teebi type, OMIM:145420",
"entity_name": "SPECC1L",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:33.459944+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPARC was added\ngene: SPARC was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SPARC was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SPARC were set to Osteogenesis imperfecta, type XVII, OMIM:616507; Osteogenesis imperfecta type 17, MONDO:0014672",
"entity_name": "SPARC",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:32.762675+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SP7 was added\ngene: SP7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SP7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SP7 were set to Osteogenesis imperfecta type 12, MONDO:0013460; Osteogenesis imperfecta, type XII, OMIM:613849",
"entity_name": "SP7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:32.265461+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX6 was added\ngene: SOX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SOX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX6 were set to Tolchin-Le Caignec syndrome, MONDO:0033544; Tolchin-Le Caignec syndrome, OMIM:618971",
"entity_name": "SOX6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:31.570429+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX5 was added\ngene: SOX5 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SOX5 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX5 were set to 12P12.5 INTRAGENIC DELETIONS ASSOCIATED WITH INTELLECTUAL DISABILITY",
"entity_name": "SOX5",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:31.148323+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX18 was added\ngene: SOX18 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SOX18 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SOX18 were set to Hypotrichosis-lymphedema-telangiectasia syndrome, MONDO:0011914; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, OMIM:137940; Hypotrichosis-lymphedema-telangiectasia-renal defect syndrome, MONDO:0019073; Hypotrichosis-lymphedema-telangiectasia syndrome, OMIM:607823",
"entity_name": "SOX18",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:30.451734+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SOX11 was added\ngene: SOX11 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SOX11 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SOX11 were set to MENTAL RETARDATION, AUTOSOMAL DOMINANT, 27",
"entity_name": "SOX11",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:29.960603+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNX10 was added\ngene: SNX10 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SNX10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SNX10 were set to Osteopetrosis, autosomal recessive 8, OMIM:615085; Autosomal recessive osteopetrosis 8, MONDO:0014040",
"entity_name": "SNX10",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:29.265544+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNRPE was added\ngene: SNRPE was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SNRPE was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SNRPE were set to AUTOSOMAL-DOMINANT HYPOTRICHOSIS SIMPLEX",
"entity_name": "SNRPE",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:28.770948+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNAP29 was added\ngene: SNAP29 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAP29 were set to 28388629; 21073448; 15968592\nPhenotypes for gene: SNAP29 were set to CEDNIK syndrome, MONDO:0012290; Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome, OMIM:609528",
"entity_name": "SNAP29",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:28.078240+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SNAP25 was added\ngene: SNAP25 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SNAP25 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SNAP25 were set to Epilepsy and intellectual disability",
"entity_name": "SNAP25",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:27.646064+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMS was added\ngene: SMS was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SMS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: SMS were set to Mental retardation, X-linked, Snyder-Robinson type, OMIM:309583; Syndromic X-linked intellectual disability Snyder type, MONDO:0010664",
"entity_name": "SMS",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:26.851505+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMPD4 was added\ngene: SMPD4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SMPD4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMPD4 were set to 31495489\nPhenotypes for gene: SMPD4 were set to Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, MONDO:0032838; Neurodevelopmental disorder with microcephaly, arthrogryposis, and structural brain anomalies, OMIM:618622",
"entity_name": "SMPD4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:26.349917+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMOC2 was added\ngene: SMOC2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SMOC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SMOC2 were set to DENTIN DYSPLASIA, TYPE I, WITH MICRODONTIA AND MISSHAPEN TEETH",
"entity_name": "SMOC2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:25.657002+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMG9 was added\ngene: SMG9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SMG9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SMG9 were set to 31390136; 27018474\nPhenotypes for gene: SMG9 were set to Heart and brain malformation syndrome, 616920; SMG9 Multiple Congenital Anomaly Syndrome",
"entity_name": "SMG9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:25.161451+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCE1 was added\ngene: SMARCE1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SMARCE1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SMARCE1 were set to COFFIN SIRIS",
"entity_name": "SMARCE1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:24.667968+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SMARCC1 was added\ngene: SMARCC1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SMARCC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SMARCC1 were set to 29983323; 32732226; 24170322; 33077954\nPhenotypes for gene: SMARCC1 were set to Corpus callosum abnormalities; Aqueductal stenosis; Septal agenesis; Congenital hydrocephalus",
"entity_name": "SMARCC1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:23.968341+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A9 was added\ngene: SLC6A9 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC6A9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A9 were set to Glycine Encephalopathy with Arthrogryposis",
"entity_name": "SLC6A9",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:23.551271+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC6A17 was added\ngene: SLC6A17 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC6A17 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC6A17 were set to MENTAL RETARDATION, AUTOSOMAL RECESSIVE 48",
"entity_name": "SLC6A17",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:22.857418+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC5A7 was added\ngene: SLC5A7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC5A7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC5A7 were set to 27569547; 31299140\nPhenotypes for gene: SLC5A7 were set to Congenital myasthenic syndrome 20, MONDO:0014939; Myasthenic syndrome, congenital, 20, presynaptic, OMIM:617143",
"entity_name": "SLC5A7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:22.366890+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC45A1 was added\ngene: SLC45A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC45A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC45A1 were set to Intellectual disability and epilepsy",
"entity_name": "SLC45A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:21.670007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC35A1 was added\ngene: SLC35A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC35A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC35A1 were set to CONGENITAL DISORDERS OF GLYCOSYLATION",
"entity_name": "SLC35A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:21.247007+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC29A3 was added\ngene: SLC29A3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC29A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC29A3 were set to H syndrome, MONDO:0011273; Histiocytosis-lymphadenopathy plus syndrome, OMIM:602782",
"entity_name": "SLC29A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:20.551255+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A4 was added\ngene: SLC25A4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC25A4 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC25A4 were set to Severe Early-Onset Mitochondrial Disease and Loss of Mitochondrial DNA Copy Number",
"entity_name": "SLC25A4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:20.056918+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A22 was added\ngene: SLC25A22 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC25A22 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A22 were set to EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 3",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:19.359359+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC25A19 was added\ngene: SLC25A19 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC25A19 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC25A19 were set to Microcephaly, Amish type, OMIM:607196; Amish lethal microcephaly, MONDO:0011790",
"entity_name": "SLC25A19",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:18.864186+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC24A4 was added\ngene: SLC24A4 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC24A4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC24A4 were set to AMELOGENESIS IMPERFECTA.",
"entity_name": "SLC24A4",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:18.170441+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC20A1 was added\ngene: SLC20A1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC20A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC20A1 were set to 32850778; 27013921\nPhenotypes for gene: SLC20A1 were set to Bladder-Exstrophy-Epispadias Complex (BEEC)",
"entity_name": "SLC20A1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:17.749488+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC1A2 was added\ngene: SLC1A2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC1A2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SLC1A2 were set to EPILEPTIC ENCEPHALOPATHY",
"entity_name": "SLC1A2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:17.057449+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC18A3 was added\ngene: SLC18A3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SLC18A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A3 were set to 31059209\nPhenotypes for gene: SLC18A3 were set to Myasthenic syndrome, congenital, 21, presynaptic, OMIM:617239; Congenital myasthenic syndrome 21, MONDO:0014983",
"entity_name": "SLC18A3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:16.561580+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIX6 was added\ngene: SIX6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SIX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SIX6 were set to Optic disc anomalies with retinal and/or macular dystrophy, OMIM:212550; Colobomatous optic disc-macular atrophy-chorioretinopathy syndrome, MONDO:0008927",
"entity_name": "SIX6",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:15.973045+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SIN3A was added\ngene: SIN3A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SIN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SIN3A were set to SYNDROMIC INTELLECTUAL DISABILITY",
"entity_name": "SIN3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:15.262116+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHROOM3 was added\ngene: SHROOM3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SHROOM3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHROOM3 were set to NEURAL TUBE DEFECT",
"entity_name": "SHROOM3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:14.769185+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHANK3 was added\ngene: SHANK3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SHANK3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHANK3 were set to Phelan-McDermid syndrome, MONDO:0011652; Phelan-McDermid syndrome, OMIM:606232",
"entity_name": "SHANK3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:14.149351+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHANK2 was added\ngene: SHANK2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SHANK2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHANK2 were set to SUSCEPTIBILITY TO AUTISM TYPE 17",
"entity_name": "SHANK2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:13.658521+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SHANK1 was added\ngene: SHANK1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SHANK1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SHANK1 were set to AUTISM",
"entity_name": "SHANK1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:12.957362+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGSH was added\ngene: SGSH was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SGSH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGSH were set to MUCOPOLYSACCHARIDOSIS TYPE 3A",
"entity_name": "SGSH",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:12.463087+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SGCG was added\ngene: SGCG was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SGCG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SGCG were set to Autosomal recessive limb-girdle muscular dystrophy type 2C, MONDO:0009677; Muscular dystrophy, limb-girdle, autosomal recessive 5, OMIM:253700",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:11.767176+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETD2 was added\ngene: SETD2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SETD2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SETD2 were set to SETD2-associated Overgrowth Syndrome",
"entity_name": "SETD2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:11.351094+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SETD1A was added\ngene: SETD1A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SETD1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SETD1A were set to INTELLECTUAL DISABILITY",
"entity_name": "SETD1A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:10.649393+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SET was added\ngene: SET was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SET was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SET were set to SET syndrome",
"entity_name": "SET",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:10.160572+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINH1 was added\ngene: SERPINH1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SERPINH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINH1 were set to Osteogenesis imperfecta type 10, MONDO:0013459; Osteogenesis imperfecta, type X, OMIM:613848",
"entity_name": "SERPINH1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:09.461570+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SERPINF1 was added\ngene: SERPINF1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SERPINF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SERPINF1 were set to Osteogenesis imperfecta, type VI, OMIM:613982; Osteogenesis imperfecta type 6, MONDO:0013515",
"entity_name": "SERPINF1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:08.967568+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SECISBP2 was added\ngene: SECISBP2 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SECISBP2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SECISBP2 were set to THYROID HORMONE METABOLISM, ABNORMAL",
"entity_name": "SECISBP2",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:08.350115+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SEC24D was added\ngene: SEC24D was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SEC24D was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SEC24D were set to SYNDROMIC OSTEOGENESIS IMPERFECTA",
"entity_name": "SEC24D",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:07.856691+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SDR9C7 was added\ngene: SDR9C7 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SDR9C7 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SDR9C7 were set to Ichthyosis, congenital, autosomal recessive 13, OMIM:617574",
"entity_name": "SDR9C7",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:07.367412+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCYL1 was added\ngene: SCYL1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SCYL1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SCYL1 were set to Episodes of Liver Failure, Peripheral Neuropathy, Cerebellar Atrophy, and Ataxia",
"entity_name": "SCYL1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:06.668385+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCUBE3 was added\ngene: SCUBE3 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SCUBE3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCUBE3 were set to 33308444\nPhenotypes for gene: SCUBE3 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies OMIM:619184; short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies 2 MONDO:0030953",
"entity_name": "SCUBE3",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:06.249874+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCN3A was added\ngene: SCN3A was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SCN3A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: SCN3A were set to Focal epilepsy",
"entity_name": "SCN3A",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:05.548454+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SCLT1 was added\ngene: SCLT1 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SCLT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SCLT1 were set to 28486600; 30425282; 23348840; 24285566; 28005958\nPhenotypes for gene: SCLT1 were set to Senior-L ken Syndrome; No OMIM phenotype; Oro-facio-digital syndrome type IX",
"entity_name": "SCLT1",
"entity_type": "gene"
},
{
"created": "2021-10-24T17:59:05.057470+11:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "0.0",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SASS6 was added\ngene: SASS6 was added to Fetal anomalies. Sources: Expert Review Amber,Genomics England PanelApp\nMode of inheritance for gene: SASS6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SASS6 were set to 24951542\nPhenotypes for gene: SASS6 were set to ?Microcephaly 14, primary, autosomal recessive 616402",
"entity_name": "SASS6",
"entity_type": "gene"
}
]
}