{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=609","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=607","results":[{"created":"2023-05-03T18:22:15.411847+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.489","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ywhae has been classified as Green List (High Evidence).","entity_name":"YWHAE","entity_type":"gene"},{"created":"2023-05-03T15:34:22.837764+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.76","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: TINF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 33734615, 32966588, 28095086; Phenotypes: Dyskeratosis congenita, autosomal dominant 3, MIM# 613990; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TINF2","entity_type":"gene"},{"created":"2023-05-02T17:01:55.213096+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PANK2 as ready","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-05-02T17:01:55.205103+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-05-02T17:01:51.713351+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANK2 as Amber List (moderate evidence)","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-05-02T17:01:51.705775+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Amber List (Moderate Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-05-02T17:01:16.067537+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PANK2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodegeneration with brain iron accumulation 1, MIM# 234200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-05-02T16:58:20.972990+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANK2 as Red List (low evidence)","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-05-02T16:58:20.959208+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.75","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Red List (Low Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-05-02T16:57:20.653897+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PCDH12 as ready","entity_name":"PCDH12","entity_type":"gene"},{"created":"2023-05-02T16:57:20.644201+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh12 has been classified as Green List (High Evidence).","entity_name":"PCDH12","entity_type":"gene"},{"created":"2023-05-02T16:56:50.732199+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PCDH12 as Green List (high evidence)","entity_name":"PCDH12","entity_type":"gene"},{"created":"2023-05-02T16:56:50.718629+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.74","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pcdh12 has been classified as Green List (High Evidence).","entity_name":"PCDH12","entity_type":"gene"},{"created":"2023-05-02T16:55:49.374570+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSMB8 as ready","entity_name":"PSMB8","entity_type":"gene"},{"created":"2023-05-02T16:55:49.363795+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb8 has been classified as Red List (Low Evidence).","entity_name":"PSMB8","entity_type":"gene"},{"created":"2023-05-02T16:55:45.243814+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSMB8 as Red List (low evidence)","entity_name":"PSMB8","entity_type":"gene"},{"created":"2023-05-02T16:55:45.228053+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmb8 has been classified as Red List (Low Evidence).","entity_name":"PSMB8","entity_type":"gene"},{"created":"2023-05-02T16:55:11.744338+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PSMG2 as Red List (low evidence)","entity_name":"PSMG2","entity_type":"gene"},{"created":"2023-05-02T16:55:11.730723+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psmg2 has been classified as Red List (Low Evidence).","entity_name":"PSMG2","entity_type":"gene"},{"created":"2023-05-02T16:54:57.999615+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTH as ready","entity_name":"PTH","entity_type":"gene"},{"created":"2023-05-02T16:54:57.985829+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pth has been classified as Red List (Low Evidence).","entity_name":"PTH","entity_type":"gene"},{"created":"2023-05-02T16:54:32.812942+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTH as Red List (low evidence)","entity_name":"PTH","entity_type":"gene"},{"created":"2023-05-02T16:54:32.788966+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pth has been classified as Red List (Low Evidence).","entity_name":"PTH","entity_type":"gene"},{"created":"2023-05-02T16:54:17.891223+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PTS as ready","entity_name":"PTS","entity_type":"gene"},{"created":"2023-05-02T16:54:17.872801+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pts has been classified as Red List (Low Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2023-05-02T16:54:07.154620+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PTS as Red List (low evidence)","entity_name":"PTS","entity_type":"gene"},{"created":"2023-05-02T16:54:07.145247+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.71","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pts has been classified as Red List (Low Evidence).","entity_name":"PTS","entity_type":"gene"},{"created":"2023-05-02T16:53:44.563072+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: QDPR as ready","entity_name":"QDPR","entity_type":"gene"},{"created":"2023-05-02T16:53:44.553500+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qdpr has been classified as Red List (Low Evidence).","entity_name":"QDPR","entity_type":"gene"},{"created":"2023-05-02T16:53:24.198440+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: QDPR as Red List (low evidence)","entity_name":"QDPR","entity_type":"gene"},{"created":"2023-05-02T16:53:24.190540+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: qdpr has been classified as Red List (Low Evidence).","entity_name":"QDPR","entity_type":"gene"},{"created":"2023-05-02T16:53:10.689224+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GNA11 as ready","entity_name":"GNA11","entity_type":"gene"},{"created":"2023-05-02T16:53:10.676424+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gna11 has been classified as Red List (Low Evidence).","entity_name":"GNA11","entity_type":"gene"},{"created":"2023-05-02T16:52:45.774081+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GNA11 as Red List (low evidence)","entity_name":"GNA11","entity_type":"gene"},{"created":"2023-05-02T16:52:45.763710+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.69","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gna11 has been classified as Red List (Low Evidence).","entity_name":"GNA11","entity_type":"gene"},{"created":"2023-05-02T16:52:26.720160+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLA as ready","entity_name":"GLA","entity_type":"gene"},{"created":"2023-05-02T16:52:26.706725+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gla has been classified as Amber List (Moderate Evidence).","entity_name":"GLA","entity_type":"gene"},{"created":"2023-05-02T16:51:54.063074+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GLA as Amber List (moderate evidence)","entity_name":"GLA","entity_type":"gene"},{"created":"2023-05-02T16:51:54.049978+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gla has been classified as Amber List (Moderate Evidence).","entity_name":"GLA","entity_type":"gene"},{"created":"2023-05-02T16:51:33.855260+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCM2 as ready","entity_name":"GCM2","entity_type":"gene"},{"created":"2023-05-02T16:51:33.843154+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcm2 has been classified as Green List (High Evidence).","entity_name":"GCM2","entity_type":"gene"},{"created":"2023-05-02T16:50:30.109302+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GCM2 as Green List (high evidence)","entity_name":"GCM2","entity_type":"gene"},{"created":"2023-05-02T16:50:30.093846+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcm2 has been classified as Green List (High Evidence).","entity_name":"GCM2","entity_type":"gene"},{"created":"2023-05-02T16:50:09.766015+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOLR1 as ready","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-05-02T16:50:09.756514+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Red List (Low Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-05-02T16:49:25.968306+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GATA3 as ready","entity_name":"GATA3","entity_type":"gene"},{"created":"2023-05-02T16:49:25.956778+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Green List (High Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2023-05-02T16:49:21.903036+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GATA3 as Green List (high evidence)","entity_name":"GATA3","entity_type":"gene"},{"created":"2023-05-02T16:49:21.894382+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gata3 has been classified as Green List (High Evidence).","entity_name":"GATA3","entity_type":"gene"},{"created":"2023-05-02T16:48:41.412706+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.65","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOLR1 were changed from  to Neurodegeneration due to cerebral folate transport deficiency, MIM#\t613068","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-05-02T16:48:33.331861+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FAM20C as ready","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-05-02T16:48:33.307871+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Green List (High Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-05-02T16:48:03.349055+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.64","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAM20C were set to 27862258; 20825432; 36914045; 34259997; 32299476; 29341424","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-05-02T16:47:30.911834+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FAM20C were set to 27862258; 20825432","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-05-02T16:47:07.577907+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FOLR1 as Red List (low evidence)","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-05-02T16:47:07.562867+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: folr1 has been classified as Red List (Low Evidence).","entity_name":"FOLR1","entity_type":"gene"},{"created":"2023-05-02T16:45:21.144868+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: FAM20C as Green List (high evidence)","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-05-02T16:45:21.132339+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fam20c has been classified as Green List (High Evidence).","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-05-02T16:45:11.212457+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SUOX as ready","entity_name":"SUOX","entity_type":"gene"},{"created":"2023-05-02T16:45:11.199719+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: suox has been classified as Green List (High Evidence).","entity_name":"SUOX","entity_type":"gene"},{"created":"2023-05-02T16:44:47.135418+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FAM20C: Rating: GREEN; Mode of pathogenicity: None; Publications: 36914045, 34259997, 32299476, 29341424; Phenotypes: Raine syndrome, MIM# 259775; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FAM20C","entity_type":"gene"},{"created":"2023-05-02T16:41:36.818750+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SUOX as Green List (high evidence)","entity_name":"SUOX","entity_type":"gene"},{"created":"2023-05-02T16:41:36.806696+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: suox has been classified as Green List (High Evidence).","entity_name":"SUOX","entity_type":"gene"},{"created":"2023-05-02T16:40:40.046440+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TBC1D20 as ready","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2023-05-02T16:40:40.038180+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d20 has been classified as Red List (Low Evidence).","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2023-05-02T16:40:37.379943+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBC1D20 were changed from Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341 to Warburg micro syndrome 4, MIM# 615663","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2023-05-02T16:40:01.494009+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TBC1D20 as Red List (low evidence)","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2023-05-02T16:40:01.439120+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tbc1d20 has been classified as Red List (Low Evidence).","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2023-05-02T16:39:26.972898+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TBC1D20: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Warburg micro syndrome 4, MIM# 615663; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2023-05-02T16:37:36.451848+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.58","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STN1 were set to 27432940; 32627942","entity_name":"STN1","entity_type":"gene"},{"created":"2023-05-02T16:36:33.749031+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.57","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNORD118 were set to 27571260","entity_name":"SNORD118","entity_type":"gene"},{"created":"2023-05-02T16:36:14.620997+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC46A1 as ready","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2023-05-02T16:36:14.612159+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc46a1 has been classified as Green List (High Evidence).","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2023-05-02T16:35:27.512929+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC46A1 as Green List (high evidence)","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2023-05-02T16:35:27.500688+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc46a1 has been classified as Green List (High Evidence).","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2023-05-02T16:19:26.544681+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Yetong Chen","item_type":"entity","text":"gene: SUOX was added\ngene: SUOX was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: SUOX was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SUOX were set to 27289259; 23250141; 24384336\nPhenotypes for gene: SUOX were set to Sulfite oxidase deficiency, MIM# 272300\nReview for gene: SUOX was set to GREEN\nAdded comment: PMID 27289259 reports 2 unrelated patients with different homozygous SUOX variants (c.713G > A(p.G238Q*) and c.884G > A (p.G295E)) who had thalami calcifications. \r\nPMID 23250141 reports a patient with homozygous SUOX variant (c.1232-1233 delTG) who had faint calcification in the thalami.\r\nPMID 24384336 reports a patient (patient 2) with homozygous SUOX variant (c.1232-1233delT) who had faint calcification in both thalami. \nSources: Expert list","entity_name":"SUOX","entity_type":"gene"},{"created":"2023-05-02T15:57:03.971422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.825","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: OXGR1 were set to PMID:35671463","entity_name":"OXGR1","entity_type":"gene"},{"created":"2023-05-02T14:47:52.209673+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Yetong Chen","item_type":"entity","text":"gene: TBC1D20 was added\ngene: TBC1D20 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: TBC1D20 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TBC1D20 were set to 32740904\nPhenotypes for gene: TBC1D20 were set to Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341\nReview for gene: TBC1D20 was set to RED\nAdded comment: Limited evidence supports the causal role of TBC1D20 in brain calcification.\r\nPMID 32740904 reports one patient (case 34) with homozygous TBC1D20 variant (c.199C>T (p.Arg67*)) who developed bilateral faint calcification in basal ganglia. \nSources: Expert list","entity_name":"TBC1D20","entity_type":"gene"},{"created":"2023-05-02T13:19:26.985378+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: STN1: Rating: GREEN; Mode of pathogenicity: None; Publications: 34110109; Phenotypes: Cerebroretinal microangiopathy with calcifications and cysts 2, MIM# 617341; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"STN1","entity_type":"gene"},{"created":"2023-05-02T12:26:06.364821+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Yetong Chen","item_type":"entity","text":"reviewed gene: SNORD118: Rating: GREEN; Mode of pathogenicity: None; Publications: 34220662, 28177126, 34986804; Phenotypes: Leukoencephalopathy, brain calcifications, and cysts, MIM# 614561; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNORD118","entity_type":"gene"},{"created":"2023-05-02T11:49:57.225373+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Yetong Chen","item_type":"entity","text":"gene: SLC46A1 was added\ngene: SLC46A1 was added to Brain Calcification. Sources: Expert list\nMode of inheritance for gene: SLC46A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC46A1 were set to 33146883; 28685492; 24534056; 27938595\nPhenotypes for gene: SLC46A1 were set to Folate malabsorption, hereditary, MIM# 229050\nReview for gene: SLC46A1 was set to GREEN\nAdded comment: PMID 33146883 reports a patient with homozygous SLC46A1 variant (c.620dupG (p.Y208Lfs *25)) who had calcifications in bilateral basal ganglia, thalamus, and subcortical white matter.\r\nPMID 28685492 reports a patient (case 2) with homozygous SLC46A1 variant (c.198C>A (p.Cys66*)) who developed basal ganglia calcification.\r\nPMID 24534056 reports a patient with compound heterozygous SLC46A1 variants (c.1A>T (MIL) and c.194-195insG (p.Cys66LeufsX99)) who developed calcifications in bilateral frontal, temporal, parietal and occipital lobes, and basal ganglia.\r\nPMID 27938595 reports 2 patients harbouring SLC46A1 variants who had progressive bilateral symmetrical calcification. Both patients had compound heterozygous variants. Patient 1 had c. 1238T>C (L413P) and c. 194-195insG (p.Cys66LeufsX99) while patient 2 had c. 1A>T (M1L) and c. 194-195insG (p.Cys66LeufsX99). It should be noted that this publication is written in Chinese and only the abstract is available in English, so details about the calcifications are not available. \nSources: Expert list","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2023-05-01T15:56:54.498934+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.824","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KPNA7 were changed from Epilepsy; intellectual disability to Oocyte/zygote/embryo maturation arrest 17, MIM# 620319; Neurodevelopmental disorder","entity_name":"KPNA7","entity_type":"gene"},{"created":"2023-05-01T15:56:27.741701+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.823","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KPNA7 were set to 24045845; 32179771","entity_name":"KPNA7","entity_type":"gene"},{"created":"2023-05-01T15:55:36.353220+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.822","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KPNA7 as Amber List (moderate evidence)","entity_name":"KPNA7","entity_type":"gene"},{"created":"2023-05-01T15:55:36.345618+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kpna7 has been classified as Amber List (Moderate Evidence).","entity_name":"KPNA7","entity_type":"gene"},{"created":"2023-05-01T15:55:18.788490+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.821","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KPNA7: Rating: AMBER; Mode of pathogenicity: None; Publications: 36647821; Phenotypes: Oocyte/zygote/embryo maturation arrest 17, MIM# 620319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KPNA7","entity_type":"gene"},{"created":"2023-05-01T13:13:54.064312+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACSL5 as ready","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-05-01T13:13:54.052821+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acsl5 has been classified as Red List (Low Evidence).","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-05-01T13:13:40.696782+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACSL5 was added\ngene: ACSL5 was added to Congenital Diarrhoea. Sources: Literature\nMode of inheritance for gene: ACSL5 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACSL5 were set to 33191500\nPhenotypes for gene: ACSL5 were set to Diarrhoea 13, MIM# \t620357\nReview for gene: ACSL5 was set to RED\nAdded comment: 6 individuals of a large consanguineous family presented in the neonatal period with recurrent vomiting and diarrhea, leading to severe FTT. Autozygosity mapping and WES identified homozygous variant (c.1358C>A:p.(Thr453Lys) in ACSL5. Segregated with affected individuals. \r\n\r\nFunctional in vitro analysis of the ACSL5 variant by immunofluorescence, western blotting and enzyme assay suggested that Thr453Lys is a loss‐of‐function mutation without any remaining activity. \r\n\r\nAffected individuals were treated with total parenteral nutrition or medium‐chain triglyceride‐based formula restricted in long‐chain triglycerides. They responded well and follow up suggests that treatment is only required during early life. \nSources: Literature","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-05-01T13:12:10.439273+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSL5 were changed from Diarrhoea 13, MIM# \t620357 to Diarrhoea 13, MIM# \t620357","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-05-01T13:12:10.194412+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.821","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSL5 were changed from severe FTT (no OMIM #) to Diarrhoea 13, MIM# \t620357","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-05-01T13:11:33.884799+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSL5 were changed from Diarrhea 13, MIM# \t620357 to Diarrhoea 13, MIM# \t620357","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-05-01T13:11:07.477970+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSL5 were changed from Diarrhea 13, MIM# \t620357 to Diarrhea 13, MIM# \t620357","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-05-01T13:10:41.763526+10:00","panel_name":"Fatty Acid Oxidation Defects","panel_id":103,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACSL5 were changed from severe FTT (no OMIM #) to Diarrhea 13, MIM# \t620357","entity_name":"ACSL5","entity_type":"gene"},{"created":"2023-04-30T16:23:35.041995+10:00","panel_name":"Polycystic liver disease","panel_id":3274,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LRP5: Changed publications: 25920554, 24706814","entity_name":"LRP5","entity_type":"gene"},{"created":"2023-04-28T17:14:49.808082+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RAB39B as ready","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-04-28T17:14:49.790986+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rab39b has been classified as Red List (Low Evidence).","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-04-28T17:14:43.443000+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RAB39B as Red List (low evidence)","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-04-28T17:14:43.431388+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.55","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rab39b has been classified as Red List (Low Evidence).","entity_name":"RAB39B","entity_type":"gene"},{"created":"2023-04-28T17:13:51.487519+10:00","panel_name":"Brain Calcification","panel_id":58,"panel_version":"1.54","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: GJA1 as Green List (high evidence)","entity_name":"GJA1","entity_type":"gene"}]}