{"count":220423,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=788","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=786","results":[{"created":"2022-07-29T08:19:57.276209+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm10 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:19:48.068263+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.132","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM10: Added comment: Upgraded due to functional evidence.; Changed rating: AMBER","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:19:14.990284+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.187","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM10 were set to 32865517; 33712616","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:18:54.175443+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM10 as Amber List (moderate evidence)","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:18:54.162571+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm10 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:18:37.517168+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.185","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MCM10: Added comment: PMID 33712616: further functional validation.; Changed rating: AMBER; Changed publications: 32865517, 33712616, 33712616","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:17:46.217288+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MCM10 were set to 32865517","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:16:44.472930+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCM10 as Amber List (moderate evidence)","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:16:44.460012+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mcm10 has been classified as Amber List (Moderate Evidence).","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-29T08:15:28.590832+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.35","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ASXL3 were set to ","entity_name":"ASXL3","entity_type":"gene"},{"created":"2022-07-29T08:14:13.481645+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ASXL3 as Green List (high evidence)","entity_name":"ASXL3","entity_type":"gene"},{"created":"2022-07-29T08:14:13.473409+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: asxl3 has been classified as Green List (High Evidence).","entity_name":"ASXL3","entity_type":"gene"},{"created":"2022-07-29T08:13:20.236609+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEBPE as ready","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-29T08:13:20.205476+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cebpe has been classified as Amber List (Moderate Evidence).","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-29T08:13:17.295602+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.163","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEBPE were changed from Autoinflammation to Autoinflammatory syndrome MONDO:0019751, CEBPE-related","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-29T08:12:21.519787+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CEBPE as Amber List (moderate evidence)","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-29T08:12:21.508251+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.162","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cebpe has been classified as Amber List (Moderate Evidence).","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-29T08:11:55.272561+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Three individuals from a single family homozygous for a missense variant. Extensive functional data presented.; to: Three individuals from a single family homozygous for a missense variant. Extensive functional data presented. Gene already has an established role in immunological disorders.","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-29T08:11:27.708753+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEBPE: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-29T08:06:54.156471+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.185","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKZF1 were changed from Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset to Immunodeficiency, common variable, 13 MIM# 616873; recurrent bacterial respiratory infections; Thrombocytopaenia; immunodeficiency; Hypogammaglobulinaemia; decrease B-cells; decrease B-cell differentiation; decrease memory B/T cells; Low Ig; pneumocystis early CID onset; Immune dysregulation","entity_name":"IKZF1","entity_type":"gene"},{"created":"2022-07-29T08:06:10.947772+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.184","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKZF1 were set to 21548011; 26981933; 29889099; 31057532; 7923373; 11805317","entity_name":"IKZF1","entity_type":"gene"},{"created":"2022-07-29T08:05:45.432971+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.183","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IKZF1: Added comment: PMID 35333544: Eight individuals harboring heterozygous IKZF1R183H or IKZF1R183C variants associated with GOF effects reported. The clinical phenotypes and pathophysiology associated with IKZF1R183H/C differ from those of previously reported patients with IKZF1HI, IKZF1DN, and IKZF1DD and should therefore be considered as a novel IKAROS-associated disease entity. This condition is characterized by immune dysregulation manifestations including inflammation, autoimmunity, atopy, and polyclonal PC proliferation.; Changed publications: 21548011, 26981933, 29889099, 31057532, 7923373, 11805317, 35333544; Changed phenotypes: Immunodeficiency, common variable, 13 MIM# 616873, recurrent bacterial respiratory infections, Thrombocytopaenia, immunodeficiency, Hypogammaglobulinaemia, decrease B-cells, decrease B-cell differentiation, decrease memory B/T cells, Low Ig, pneumocystis early CID onset, Immune dysregulation","entity_name":"IKZF1","entity_type":"gene"},{"created":"2022-07-29T08:02:26.057827+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.161","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TBK1 were changed from Autoinflammation to Immunodeficiency, MONDO:0021094, TBK1-related, AR; Autoinflammation","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-07-29T08:00:25.013022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.183","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-07-29T08:00:03.924241+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.182","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKZF2 were set to 34920454","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-07-29T07:59:42.600649+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.181","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-07-29T07:59:23.155691+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: IKZF2: Added comment: Iranian male with homozygous missense variant with recurrent infection, hypogammaglobulinaemia. Extends inheritance to AR. Supportive functional data.; Changed publications: 34920454, 34826259; Changed phenotypes: Immunodeficiency, MONDO:0021094, IKZF2-related, Immune dysregulation; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-07-29T07:58:15.866947+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IKZF2 were changed from Immune dysregulation to Immunodeficiency, MONDO:0021094, IKZF2-related; Immune dysregulation","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-07-29T07:57:02.582486+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IKZF2 were set to 34920454","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-07-29T07:56:32.507598+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: IKZF2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"IKZF2","entity_type":"gene"},{"created":"2022-07-29T07:08:39.341795+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.40","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-29T07:08:23.437303+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.39","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 87, autosomal recessive, MIM# 619966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-29T07:08:05.536560+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4861","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-29T07:07:35.255766+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4860","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 87, autosomal recessive, MIM# 619966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-29T07:07:11.444824+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM63C as ready","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-29T07:07:11.435041+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem63c has been classified as Green List (High Evidence).","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-29T07:07:02.855623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.180","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM63C were changed from Hereditary spastic paraplegia, MONDO:0019064, TMEM63C-related to Spastic paraplegia 87, autosomal recessive, MIM# 619966","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-29T07:06:40.187938+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.179","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TMEM63C: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia 87, autosomal recessive, MIM# 619966; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM63C","entity_type":"gene"},{"created":"2022-07-28T18:54:22.608429+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WNT10A as ready","entity_name":"WNT10A","entity_type":"gene"},{"created":"2022-07-28T18:54:22.594923+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt10a has been classified as Red List (Low Evidence).","entity_name":"WNT10A","entity_type":"gene"},{"created":"2022-07-28T18:54:12.102864+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: WNT10A as Red List (low evidence)","entity_name":"WNT10A","entity_type":"gene"},{"created":"2022-07-28T18:54:12.092260+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.95","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wnt10a has been classified as Red List (Low Evidence).","entity_name":"WNT10A","entity_type":"gene"},{"created":"2022-07-28T18:26:44.881945+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: TFR2.","entity_name":"TFR2","entity_type":"gene"},{"created":"2022-07-28T18:25:59.255554+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TECPR2 as ready","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-07-28T18:25:59.247186+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecpr2 has been classified as Green List (High Evidence).","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-07-28T18:25:53.073600+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TECPR2 as Green List (high evidence)","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-07-28T18:25:53.061982+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.94","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tecpr2 has been classified as Green List (High Evidence).","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-07-28T18:25:42.558247+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TECPR2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IX, with developmental delay, MIM#615031; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TECPR2","entity_type":"gene"},{"created":"2022-07-28T18:24:50.518084+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: TAT.","entity_name":"TAT","entity_type":"gene"},{"created":"2022-07-28T18:24:14.618603+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: SLC4A11.","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-07-28T18:23:40.403210+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC26A4 as ready","entity_name":"SLC26A4","entity_type":"gene"},{"created":"2022-07-28T18:23:40.391360+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc26a4 has been classified as Red List (Low Evidence).","entity_name":"SLC26A4","entity_type":"gene"},{"created":"2022-07-28T18:23:33.632653+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC26A4 as Red List (low evidence)","entity_name":"SLC26A4","entity_type":"gene"},{"created":"2022-07-28T18:23:33.624215+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.93","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc26a4 has been classified as Red List (Low Evidence).","entity_name":"SLC26A4","entity_type":"gene"},{"created":"2022-07-28T18:23:19.063854+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC26A4: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 4, with enlarged vestibular aqueduct (MIM#600791), Pendred syndrome (MIM#274600); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC26A4","entity_type":"gene"},{"created":"2022-07-28T18:22:26.948850+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: SLC12A3.","entity_name":"SLC12A3","entity_type":"gene"},{"created":"2022-07-28T18:21:36.604723+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: RS1.","entity_name":"RS1","entity_type":"gene"},{"created":"2022-07-28T18:21:10.120247+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: PYGM.","entity_name":"PYGM","entity_type":"gene"},{"created":"2022-07-28T18:20:12.426203+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: OAT.","entity_name":"OAT","entity_type":"gene"},{"created":"2022-07-28T18:19:34.774015+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: NR2E3.","entity_name":"NR2E3","entity_type":"gene"},{"created":"2022-07-28T18:15:51.946458+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: MEFV.","entity_name":"MEFV","entity_type":"gene"},{"created":"2022-07-28T18:15:15.017429+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCCC2 as ready","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-07-28T18:15:14.997077+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mccc2 has been classified as Red List (Low Evidence).","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-07-28T18:15:03.779146+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCCC2 as Red List (low evidence)","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-07-28T18:15:03.770169+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.92","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mccc2 has been classified as Red List (Low Evidence).","entity_name":"MCCC2","entity_type":"gene"},{"created":"2022-07-28T18:14:14.382606+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MCCC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-Methylcrotonyl-CoA carboxylase 1 deficiency (MIM#210200); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-07-28T18:13:38.137558+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MCCC1 as ready","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-07-28T18:13:38.129021+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mccc1 has been classified as Red List (Low Evidence).","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-07-28T18:13:32.567761+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MCCC1 as Red List (low evidence)","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-07-28T18:13:32.555293+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.91","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mccc1 has been classified as Red List (Low Evidence).","entity_name":"MCCC1","entity_type":"gene"},{"created":"2022-07-28T18:12:13.571487+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LOXHD1 as ready","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-07-28T18:12:13.562934+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxhd1 has been classified as Red List (Low Evidence).","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-07-28T18:11:57.864136+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LOXHD1 as Red List (low evidence)","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-07-28T18:11:57.852564+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: loxhd1 has been classified as Red List (Low Evidence).","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-07-28T18:11:47.565998+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LOXHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 77 (MIM#613079); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LOXHD1","entity_type":"gene"},{"created":"2022-07-28T18:07:47.827450+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.160","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALPK1 were set to 31053777","entity_name":"ALPK1","entity_type":"gene"},{"created":"2022-07-28T18:07:19.409686+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.159","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome to Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979; Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome","entity_name":"ALPK1","entity_type":"gene"},{"created":"2022-07-28T18:06:49.558292+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPK1 as Green List (high evidence)","entity_name":"ALPK1","entity_type":"gene"},{"created":"2022-07-28T18:06:49.548574+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.158","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpk1 has been classified as Green List (High Evidence).","entity_name":"ALPK1","entity_type":"gene"},{"created":"2022-07-28T16:30:16.154002+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.179","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: ROBO4: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:30455415, 32748548; Phenotypes: Aortic valve disease 8 MIM#618496; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"ROBO4","entity_type":"gene"},{"created":"2022-07-28T13:51:37.313500+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.179","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: EIF2B1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31882561; Phenotypes: Leukoencephalopathy with vanishing white matter MIM#603896, permanent neonatal/early onset diabetes and transient liver dysfunction; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"EIF2B1","entity_type":"gene"},{"created":"2022-07-28T10:53:24.211239+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IKZF1 as ready","entity_name":"IKZF1","entity_type":"gene"},{"created":"2022-07-28T10:53:24.201860+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ikzf1 has been classified as Green List (High Evidence).","entity_name":"IKZF1","entity_type":"gene"},{"created":"2022-07-28T10:53:05.895420+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IKZF1 as Green List (high evidence)","entity_name":"IKZF1","entity_type":"gene"},{"created":"2022-07-28T10:53:05.884038+10:00","panel_name":"Disorders of immune dysregulation","panel_id":229,"panel_version":"0.148","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ikzf1 has been classified as Green List (High Evidence).","entity_name":"IKZF1","entity_type":"gene"},{"created":"2022-07-28T10:04:19.589714+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: TBK1 as ready","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-07-28T10:04:19.576753+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tbk1 has been classified as Green List (High Evidence).","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-07-28T10:03:09.819369+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: TBK1 as Green List (high evidence)","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-07-28T10:03:09.808386+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.157","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: tbk1 has been classified as Green List (High Evidence).","entity_name":"TBK1","entity_type":"gene"},{"created":"2022-07-28T09:10:52.206680+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RECQL as ready","entity_name":"RECQL","entity_type":"gene"},{"created":"2022-07-28T09:10:52.194642+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: recql has been classified as Amber List (Moderate Evidence).","entity_name":"RECQL","entity_type":"gene"},{"created":"2022-07-28T09:10:32.088338+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RECQL as Amber List (moderate evidence)","entity_name":"RECQL","entity_type":"gene"},{"created":"2022-07-28T09:10:32.079626+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.2","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: recql has been classified as Amber List (Moderate Evidence).","entity_name":"RECQL","entity_type":"gene"},{"created":"2022-07-28T08:23:15.681435+10:00","panel_name":"Photosensitivity Syndromes","panel_id":156,"panel_version":"1.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2022-07-27T15:27:42.326751+10:00","panel_name":"Susceptibility to Viral Infections","panel_id":237,"panel_version":"0.91","user_name":"Peter McNaughton","item_type":"entity","text":"reviewed gene: MCM10: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33712616; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MCM10","entity_type":"gene"},{"created":"2022-07-27T11:32:51.864461+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.33","user_name":"Clare van Eyk","item_type":"entity","text":"reviewed gene: ASXL3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 35863334, 33528536; Phenotypes: Bainbridge-Ropers syndrome (MIM #615485); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ASXL3","entity_type":"gene"},{"created":"2022-07-26T16:03:40.623370+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4860","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2022-07-26T16:03:09.932478+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4859","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ARFGEF1: Changed phenotypes: Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2022-07-26T16:03:05.236423+10:00","panel_name":"Systemic Autoinflammatory Disease_Periodic Fever","panel_id":238,"panel_version":"0.156","user_name":"Peter McNaughton","item_type":"entity","text":"gene: CEBPE was added\ngene: CEBPE was added to Systemic Autoinflammatory Disease_Periodic Fever. Sources: Literature\nMode of inheritance for gene: CEBPE was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEBPE were set to PMID: 31201888\nPhenotypes for gene: CEBPE were set to Autoinflammation\nMode of pathogenicity for gene: CEBPE was set to Other\nReview for gene: CEBPE was set to AMBER\nAdded comment: Single family presenting with autoinflammatory syndrome - recurrent attacks of abdominal pain, aseptic fever, and systemic inflammation lasting 4 to 5 days. These were accompanied by an acute-phase response and occasionally by nailbed, tongue, submandibular and gluteal abscesses; intra-abdominal granulomas; pyoderma gangrenosum; and buccal ulcerations \nSources: Literature","entity_name":"CEBPE","entity_type":"gene"},{"created":"2022-07-26T16:02:57.921510+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1634","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARFGEF1 were changed from Intellectual disability; Epilepsy to Developmental delay, impaired speech, and behavioral abnormalities, MIM# 619964","entity_name":"ARFGEF1","entity_type":"gene"}]}