{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1068","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1066","results":[{"created":"2021-12-30T20:36:01.257307+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1675","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CAD were set to ","entity_name":"CAD","entity_type":"gene"},{"created":"2021-12-30T20:35:45.612865+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1674","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Four unrelated families (two with same variant and Roma background, likely founder). \nSources: Expert list; to: Four unrelated families (two with same variant and Roma background, likely founder). Onset in infancy.\r\nSources: Expert list","entity_name":"CAD","entity_type":"gene"},{"created":"2021-12-30T20:35:35.271193+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1674","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CAD: Changed rating: RED","entity_name":"CAD","entity_type":"gene"},{"created":"2021-12-30T20:35:00.214683+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1674","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:C4orf26 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-30T20:33:57.629142+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1673","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:C2orf71 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-30T20:33:36.000179+11:00","panel_name":"Skeletal dysplasia","panel_id":258,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:C2orf71 from the panel","entity_name":null,"entity_type":null},{"created":"2021-12-30T20:32:42.752390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10423","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2orf71 as ready","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:32:42.740283+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10423","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf71 has been classified as Green List (High Evidence).","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:32:35.283319+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10423","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2orf71 were changed from  to Retinitis pigmentosa 54, MIM# 613428","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:32:17.506622+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10422","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: C2orf71 were set to ","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:31:56.963705+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10421","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: C2orf71 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:31:38.662781+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10420","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C2orf71: Rating: GREEN; Mode of pathogenicity: None; Publications: 20398886, 20398884, 24780881, 31819343, 29946172, 28763557; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:29:26.483279+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C2orf71 as ready","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:29:26.465350+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c2orf71 has been classified as Red List (Low Evidence).","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:28:58.651475+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1672","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: C2orf71 were changed from RETINITIS PIGMENTOSA 54 to Retinitis pigmentosa 54, MIM# 613428","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:28:44.669203+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: C2orf71: Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:28:19.368439+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: C2orf71: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 54, MIM# 613428; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"C2orf71","entity_type":"gene"},{"created":"2021-12-30T20:06:26.020049+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10420","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SH3PXD2B as ready","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T20:06:26.009769+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10420","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sh3pxd2b has been classified as Green List (High Evidence).","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T20:06:17.892586+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10420","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SH3PXD2B were changed from  to Frank-ter Haar syndrome, MIM# 249420","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T20:05:55.687913+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10419","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SH3PXD2B were set to ","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T20:05:36.172243+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10418","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SH3PXD2B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T20:05:16.881183+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10417","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 24105366, 20137777, 34538861, 33234702, 31978614; Phenotypes: Frank-ter Haar syndrome, MIM# 249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T20:01:29.057313+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: SETBP1: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.\r\n\r\nLoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554. This disorder typically presents post-natally.","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T20:00:47.808968+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10417","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SETBP1 as ready","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T20:00:47.799831+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10417","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: setbp1 has been classified as Green List (High Evidence).","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T20:00:25.316287+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10417","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SETBP1 were changed from  to Schinzel-Giedion midface retraction syndrome, MIM# 269150; Intellectual disability, autosomal dominant 29, MIM# 616078","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:59:43.887110+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10416","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SETBP1 were set to ","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:59:21.341415+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10415","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: GoF variants cause Schinzel-Giedion syndrome, whereas LoF variants cause SETBP1-haploinsufficiency syndrome, over 40 individuals reviewed in PMID 34807554.; to: GoF variants cause Schinzel-Giedion syndrome, a severe multi-system disorder characterized by recognizable facial characteristics, severe-profound intellectual disability, intractable epilepsy, cortical visual impairment, deafness, and congenital anomalies such as cardiac defects, urogenital defects, and bone abnormalities. Causative pathogenic variants are clustered within a 12-base pair hot spot region in exon 4.\r\n\r\nLoF variants cause SETBP1-haploinsufficiency syndrome, characterized by hypotonia and mild motor developmental delay; intellectual abilities ranging from normal to severe disability; speech and language disorder; behavioral problems (most commonly attention/concentration deficits and hyperactivity, impulsivity), and refractive errors and strabismus. Over 40 individuals reviewed in PMID 34807554.","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:58:11.566030+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10415","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SETBP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:57:54.350127+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10414","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20436468, 25217958, 34807554; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150, Mental retardation, autosomal dominant 29, MIM# 616078; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:53:15.417271+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1671","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150 to Schinzel-Giedion midface retraction syndrome, MIM# 269150","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:53:02.929334+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1670","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SETBP1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:52:49.703295+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1669","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SETBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Schinzel-Giedion midface retraction syndrome, MIM# 269150; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T19:51:59.148929+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1669","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCO2 were changed from Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:51:41.310190+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1668","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCO2 were set to 15210538; 18924171","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:51:14.108993+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1667","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SCO2 as Green List (high evidence)","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:51:14.082018+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1667","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sco2 has been classified as Green List (High Evidence).","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:51:03.089451+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Typically manifests post-natally though rare fetal presentations reported, PMID 15210538.; to: Severe neonatal presentations, and at least two reports of fetal presentations.","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:50:24.421611+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCO2: Changed publications: 15210538, 18924171, 22231385","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:50:09.550893+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SCO2: Changed rating: GREEN; Changed publications: 15210538, 18924171","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:49:24.354878+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCO2: Rating: AMBER; Mode of pathogenicity: None; Publications: 15210538; Phenotypes: Mitochondrial complex IV deficiency, nuclear type 2, MIM# 604377; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T19:48:37.466943+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10414","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SCN4A as ready","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T19:48:37.451698+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10414","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: scn4a has been classified as Green List (High Evidence).","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T19:48:03.535303+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10414","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SCN4A were changed from  to Hyperkalemic periodic paralysis, type 2, MIM# 170500; Hypokalemic periodic paralysis, type 2, MIM# 613345; Myasthenic syndrome, congenital, 16, MIM# 614198; Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390; Paramyotonia congenita , MIM#168300","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T19:46:39.911801+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10413","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SCN4A were set to ","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T19:46:02.757785+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10412","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SCN4A was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T19:45:45.229248+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10411","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 34671263; Phenotypes: Hyperkalemic periodic paralysis, type 2, MIM# 170500, Hypokalemic periodic paralysis, type 2, MIM# 613345, Myasthenic syndrome, congenital, 16, MIM# 614198, Myotonia congenita, atypical, acetazolamide-responsive , MIM#608390, Paramyotonia congenita , MIM#168300; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T19:04:22.298708+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10411","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ING1 were changed from  to Squamous cell carcinoma, head and neck, somatic, MIM# 275355","entity_name":"ING1","entity_type":"gene"},{"created":"2021-12-30T19:04:02.279854+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10410","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ING1: Changed phenotypes: Squamous cell carcinoma, head and neck, somatic, MIM# 275355","entity_name":"ING1","entity_type":"gene"},{"created":"2021-12-30T19:03:47.821279+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10410","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ING1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ING1","entity_type":"gene"},{"created":"2021-12-30T19:01:58.962999+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAP1 as ready","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:01:58.946930+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trap1 has been classified as Green List (High Evidence).","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:01:52.241526+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TRAP1 as Green List (high evidence)","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:01:52.230197+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1666","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trap1 has been classified as Green List (High Evidence).","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:01:40.333118+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1665","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:01:08.329774+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10410","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TRAP1 as ready","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:01:08.319752+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10410","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: trap1 has been classified as Green List (High Evidence).","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:01:00.916916+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10410","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TRAP1 were changed from  to CAKUT; VACTERL","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:00:42.878689+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10409","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TRAP1 were set to ","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:00:25.027595+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10408","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TRAP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T19:00:08.800150+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10407","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TRAP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24152966; Phenotypes: CAKUT, VACTERL; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAP1","entity_type":"gene"},{"created":"2021-12-30T17:07:58.681362+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1665","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SH3PXD2B as ready","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T17:07:58.672011+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1665","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sh3pxd2b has been classified as Green List (High Evidence).","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T17:07:50.737261+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1665","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SH3PXD2B were changed from FRANK-TER HAAR SYNDROME to Frank-ter Haar syndrome, MIM#249420","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T17:07:40.336539+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1664","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SH3PXD2B were set to ","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T17:07:19.827122+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1663","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SH3PXD2B: Rating: GREEN; Mode of pathogenicity: None; Publications: 15523657, 24105366; Phenotypes: Frank-ter Haar syndrome, MIM#249420; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SH3PXD2B","entity_type":"gene"},{"created":"2021-12-30T17:02:10.231728+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1663","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SETBP1 as ready","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T17:02:10.226491+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1663","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment when marking as ready: Well established gene disease association with facial and skeletal abnormalities detectable in utero.","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T17:02:10.188870+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1663","user_name":"Seb Lunke","item_type":"entity","text":"Gene: setbp1 has been classified as Green List (High Evidence).","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T17:01:32.281876+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1663","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SETBP1 were set to ","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T17:00:37.896570+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1662","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SETBP1 were changed from DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME to DEVELOPMENTAL AND EXPRESSIVE LANGUAGE DELAY, MIM#616078; SCHINZEL-GIEDION MIDFACE RETRACTION SYNDROME, MIM#269150","entity_name":"SETBP1","entity_type":"gene"},{"created":"2021-12-30T16:55:09.028024+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1661","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SCO2 as ready","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T16:55:09.018192+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1661","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sco2 has been classified as Amber List (Moderate Evidence).","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T16:54:42.879537+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1661","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SCO2 were changed from FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY to Mitochondrial complex IV deficiency, nuclear type 2, MIM#604377; FATAL INFANTILE CARDIOENCEPHALOMYOPATHY DUE TO CYTOCHROME C OXIDASE DEFICIENCY","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T16:53:45.731151+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1660","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SCO2 as Amber List (moderate evidence)","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T16:53:45.726366+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1660","user_name":"Seb Lunke","item_type":"entity","text":"Added comment: Comment on list classification: Generally severe, rapidly progressive hypertrophic cardiomyopathy that presents in the neonatal period, early spontaneous abortions and fetal wastage described in one family.","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T16:53:45.680381+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1660","user_name":"Seb Lunke","item_type":"entity","text":"Gene: sco2 has been classified as Amber List (Moderate Evidence).","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T16:52:25.646874+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1659","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SCO2 were set to 15210538; 18924171","entity_name":"SCO2","entity_type":"gene"},{"created":"2021-12-30T16:44:35.607439+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1658","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SCN4A as ready","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T16:44:35.596083+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1658","user_name":"Seb Lunke","item_type":"entity","text":"Gene: scn4a has been classified as Green List (High Evidence).","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T16:44:29.712186+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1658","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SCN4A were changed from HYPERKALEMIC PERIODIC PARALYSIS TYPE 1; PARAMYOTONIA CONGENITA OF VON EULENBURG; HYPOKALEMIC PERIODIC PARALYSIS to Congenital myopathy; Myasthenic syndrome, congenital, 16 MIM#614198","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T16:44:10.570502+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1657","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SCN4A were set to ","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T16:43:58.067418+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1656","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SCN4A was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T16:43:25.108587+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1655","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SCN4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 26700687; Phenotypes: Congenital myopathy, Myasthenic syndrome, congenital, 16 MIM#614198; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SCN4A","entity_type":"gene"},{"created":"2021-12-30T11:48:36.065133+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4399","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRWD3 as ready","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:48:36.055228+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4399","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brwd3 has been classified as Green List (High Evidence).","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:48:26.676648+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4399","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRWD3 were changed from  to Intellectual developmental disorder, X-linked 93, MIM # 300659","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:47:59.284580+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4398","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRWD3 were set to ","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:47:31.504927+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4397","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRWD3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:47:00.704166+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4396","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BRWD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 17668385, 30628072, 24462886; Phenotypes: Intellectual developmental disorder, X-linked 93, MIM # 300659; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:46:17.025275+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1655","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRWD3 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:45:47.836199+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1654","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRWD3 were set to ","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:45:36.309564+11:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"0.1653","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRWD3 were changed from tellectual developmental disorder, X-linked 93, MIM# 300659 to Intellectual developmental disorder, X-linked 93, MIM# 300659","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:44:57.972296+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10407","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BRWD3 as ready","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:44:57.961900+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10407","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: brwd3 has been classified as Green List (High Evidence).","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:44:50.469935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10407","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BRWD3 were changed from  to Intellectual developmental disorder, X-linked 93, MIM # 300659","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:43:58.858851+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10406","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BRWD3 were set to ","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:43:25.689033+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10405","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: BRWD3 was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"BRWD3","entity_type":"gene"},{"created":"2021-12-30T11:43:06.890687+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.10404","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 10 unrelated families reported, overgrowth, and in particular macrocephaly.; to: More than 10 unrelated families reported with ID, overgrowth, and in particular macrocephaly.","entity_name":"BRWD3","entity_type":"gene"}]}