{"count":221385,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1822","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1820","results":[{"created":"2020-04-23T08:48:32.965728+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP53 as Green List (high evidence)","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:48:32.948009+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp53 has been classified as Green List (High Evidence).","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:48:04.715830+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"gene: USP53 was added\ngene: USP53 was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP53 were set to 30250217; 32124521\nPhenotypes for gene: USP53 were set to Cholestasis; deafness\nReview for gene: USP53 was set to GREEN\nAdded comment: 8 unrelated families with cholestasis reported. Jaundice began at age <7 months. Cholestasis was transient in 7 families, with documented resolution of hyperbilirubinaemia in all (oldest patient aged 5 years). In another family, one individual required liver transplantation. Three individuals from two families had deafness. \nSources: Literature","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:44:09.278666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2596","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: USP53 were set to PMID: 30250217","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:43:56.603141+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2595","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: LSR: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32303357, 30250217; Phenotypes: Intrahepatic cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LSR","entity_type":"gene"},{"created":"2020-04-23T08:42:19.024921+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2595","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: USP53 as ready","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:42:19.011559+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2595","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp53 has been classified as Green List (High Evidence).","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:42:10.606353+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2595","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: USP53 were changed from Deafness to Cholestasis; deafness","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:41:46.788129+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2594","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP53 as Green List (high evidence)","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:41:46.775904+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2594","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp53 has been classified as Green List (High Evidence).","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:41:27.876063+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2593","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: USP53: Rating: GREEN; Mode of pathogenicity: None; Publications: 32124521; Phenotypes: Cholestasis, deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:37:34.005210+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2593","user_name":"Ee Ming Wong","item_type":"entity","text":"Deleted their review","entity_name":"LSR","entity_type":"gene"},{"created":"2020-04-23T08:37:11.654440+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2593","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: USP53 as Red List (low evidence)","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:37:11.641229+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2593","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: usp53 has been classified as Red List (Low Evidence).","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:36:26.650477+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2592","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: LSR was added\ngene: LSR was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: LSR was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LSR were set to PMID: 30250217\nPhenotypes for gene: LSR were set to transient neonatal cholestasis; intellectual disability; short stature\nReview for gene: LSR was set to RED\nAdded comment: 1 individual from 1 consanguineous family carrying a homozygous missense variant in LSR \nSources: Literature","entity_name":"LSR","entity_type":"gene"},{"created":"2020-04-23T08:35:17.000537+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPM1F as ready","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:35:16.986489+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppm1f has been classified as Red List (Low Evidence).","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:35:10.317401+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PPM1F was added\ngene: PPM1F was added to Cholestasis. Sources: Literature\nMode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPM1F were set to 30250217\nPhenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentatio\nReview for gene: PPM1F was set to RED\nAdded comment: One consanguineous family reported. \nSources: Literature","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:33:14.729053+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2592","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PPM1F as ready","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:33:14.714298+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppm1f has been classified as Red List (Low Evidence).","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:32:58.375723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2592","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PPM1F as Red List (low evidence)","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:32:58.366487+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2592","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ppm1f has been classified as Red List (Low Evidence).","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:30:13.803918+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2591","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: USP53 was added\ngene: USP53 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: USP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: USP53 were set to PMID: 30250217\nPhenotypes for gene: USP53 were set to Deafness\nReview for gene: USP53 was set to RED\nAdded comment: 1 consanguineous family carrying a homozygous truncating variant in USP53 \nSources: Literature","entity_name":"USP53","entity_type":"gene"},{"created":"2020-04-23T08:24:52.723324+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2591","user_name":"Ee Ming Wong","item_type":"entity","text":"gene: PPM1F was added\ngene: PPM1F was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PPM1F was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PPM1F were set to PMID: 30250217\nPhenotypes for gene: PPM1F were set to sclerosing cholangitis; short stature; hypothyroidism; abnormal tongue pigmentation\nReview for gene: PPM1F was set to RED\nAdded comment: 1 consanguineous family found to carry a homozygous missense variant in PPM1F \nSources: Literature","entity_name":"PPM1F","entity_type":"gene"},{"created":"2020-04-23T08:08:46.721420+10:00","panel_name":"Fatty Oxidation Defects","panel_id":103,"panel_version":"0.2","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":"2020-04-23T08:00:53.715487+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"0.24","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":"2020-04-23T07:59:46.833406+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RBCK1 as Green List (high evidence)","entity_name":"RBCK1","entity_type":"gene"},{"created":"2020-04-23T07:59:46.820017+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.4","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: rbck1 has been classified as Green List (High Evidence).","entity_name":"RBCK1","entity_type":"gene"},{"created":"2020-04-23T07:59:00.279294+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.3","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RBCK1 was added\ngene: RBCK1 was added to Glycogen Storage Diseases. Sources: Expert list\nMode of inheritance for gene: RBCK1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RBCK1 were set to 23798481; 23104095\nPhenotypes for gene: RBCK1 were set to Polyglucosan body myopathy 1 with or without immunodeficiency MIM#615895\nReview for gene: RBCK1 was set to GREEN\nAdded comment: Biallelic variants cause polyglucosan storage myopathy associated with progressive muscle weakness and cardiomyopathy, which is characterised as a glycogen storage disorder. At least 9 families reported. \nSources: Expert list","entity_name":"RBCK1","entity_type":"gene"},{"created":"2020-04-23T07:48:44.404160+10:00","panel_name":"Glycogen Storage Diseases","panel_id":106,"panel_version":"0.2","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":"2020-04-23T07:40:27.494100+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.1","user_name":"Bryony Thompson","item_type":"panel","text":"Panel status changed from internal to public\nPanel types changed to Royal Melbourne Hospital; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-04-23T07:37:39.753425+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NOS3 was added\ngene: NOS3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NOS3 was set to Unknown","entity_name":"NOS3","entity_type":"gene"},{"created":"2020-04-23T07:37:39.687675+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MYH11 was added\ngene: MYH11 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MYH11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: MYH11 were set to Aortic aneurysm, familial thoracic 4","entity_name":"MYH11","entity_type":"gene"},{"created":"2020-04-23T07:37:39.618798+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: MUT was added\ngene: MUT was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: MUT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MUT were set to Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency","entity_name":"MUT","entity_type":"gene"},{"created":"2020-04-23T07:37:39.552766+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: GLA was added\ngene: GLA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: GLA was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: GLA were set to Fabry disease","entity_name":"GLA","entity_type":"gene"},{"created":"2020-04-23T07:37:39.488186+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: FLNA was added\ngene: FLNA was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: FLNA was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: FLNA were set to Periventricular nodular heterotopia 1","entity_name":"FLNA","entity_type":"gene"},{"created":"2020-04-23T07:37:39.422771+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: WFS1 was added\ngene: WFS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: WFS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: WFS1 were set to Diabetes mellitus AND insipidus with optic atrophy AND deafness","entity_name":"WFS1","entity_type":"gene"},{"created":"2020-04-23T07:37:39.357302+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TTR was added\ngene: TTR was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TTR was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TTR were set to Amyloidogenic transthyretin amyloidosis","entity_name":"TTR","entity_type":"gene"},{"created":"2020-04-23T07:37:39.285284+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: TREX1 was added\ngene: TREX1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: TREX1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TREX1 were set to Vasculopathy, retinal, with cerebral leukodystrophy","entity_name":"TREX1","entity_type":"gene"},{"created":"2020-04-23T07:37:39.216574+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: STIM1 was added\ngene: STIM1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: STIM1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: STIM1 were set to Stormorken syndrome","entity_name":"STIM1","entity_type":"gene"},{"created":"2020-04-23T07:37:39.152267+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SMAD4 was added\ngene: SMAD4 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SMAD4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: SMAD4 were set to Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 175050","entity_name":"SMAD4","entity_type":"gene"},{"created":"2020-04-23T07:37:39.087110+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: SLC2A10 was added\ngene: SLC2A10 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: SLC2A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A10 were set to 208050; Moyamoya disease; Arterial tortuosity syndrome","entity_name":"SLC2A10","entity_type":"gene"},{"created":"2020-04-23T07:37:39.022533+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: POLG was added\ngene: POLG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: POLG was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-23T07:37:38.956560+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: OTC was added\ngene: OTC was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: OTC was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: OTC were set to Ornithine carbamoyltransferase deficiency","entity_name":"OTC","entity_type":"gene"},{"created":"2020-04-23T07:37:38.890015+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NOTCH3 was added\ngene: NOTCH3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: NOTCH3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: NOTCH3 were set to Cerebral Autosomal Dominant Arteriopathy with Subcortical Infarcts and Leukoencephalopathy (CADASIL)","entity_name":"NOTCH3","entity_type":"gene"},{"created":"2020-04-23T07:37:38.826369+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: HTRA1 was added\ngene: HTRA1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: HTRA1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: HTRA1 were set to Cerebral autosomal recessive arteriopathy with subcortical infarcts and leukoencephalopathy; Cerebral arteriopathy, autosomal dominant, with subcortical infarcts and leukoencephalopathy, type 2, 616779","entity_name":"HTRA1","entity_type":"gene"},{"created":"2020-04-23T07:37:38.762368+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ENG was added\ngene: ENG was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ENG was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ENG were set to Telangiectasia, hereditary hemorrhagic, type 1 187300","entity_name":"ENG","entity_type":"gene"},{"created":"2020-04-23T07:37:38.698816+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CST3 was added\ngene: CST3 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: CST3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: CST3 were set to Hereditary cerebral amyloid angiopathy, Icelandic type","entity_name":"CST3","entity_type":"gene"},{"created":"2020-04-23T07:37:38.632548+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: COL4A1 was added\ngene: COL4A1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: COL4A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL4A1 were set to Brain small vessel disease with or without ocular anomalies; Brain Small Vessel Disease with Hemorrhage","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-04-23T07:37:38.569032+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ASS1 was added\ngene: ASS1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ASS1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ASS1 were set to Citrullinemia type","entity_name":"ASS1","entity_type":"gene"},{"created":"2020-04-23T07:37:38.505500+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APP was added\ngene: APP was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: APP was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APP were set to Cerebral amyloid angiopathy, APP-related","entity_name":"APP","entity_type":"gene"},{"created":"2020-04-23T07:37:38.442395+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ADA2 was added\ngene: ADA2 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ADA2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ADA2 were set to Polyarteritis nodosa; Sneddon syndrome 182410","entity_name":"ADA2","entity_type":"gene"},{"created":"2020-04-23T07:37:38.379571+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACVRL1 was added\ngene: ACVRL1 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ACVRL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ACVRL1 were set to Telangiectasia, hereditary hemorrhagic, type 2 600376","entity_name":"ACVRL1","entity_type":"gene"},{"created":"2020-04-23T07:37:38.316847+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ACAD9 was added\ngene: ACAD9 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ACAD9 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: ACAD9 were set to Acyl-CoA dehydrogenase family, member 9, deficiency of","entity_name":"ACAD9","entity_type":"gene"},{"created":"2020-04-23T07:37:38.252760+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: ABCC6 was added\ngene: ABCC6 was added to Stroke. Sources: Expert Review Green,Royal Melbourne Hospital\nMode of inheritance for gene: ABCC6 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ABCC6 were set to Pseudoxanthoma elasticum, forme fruste","entity_name":"ABCC6","entity_type":"gene"},{"created":"2020-04-23T07:37:38.213998+10:00","panel_name":"Stroke","panel_id":3141,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Stroke","entity_name":null,"entity_type":null},{"created":"2020-04-23T06:46:24.834555+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPEF2 as ready","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:46:24.825324+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spef2 has been classified as Amber List (Moderate Evidence).","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:46:21.617251+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype to Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:45:57.225211+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SPEF2 as Amber List (moderate evidence)","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:45:57.216800+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: spef2 has been classified as Amber List (Moderate Evidence).","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:45:27.848962+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SPEF2 was added\ngene: SPEF2 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: SPEF2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPEF2 were set to 31151990; 31278745; 31048344; 31942643\nPhenotypes for gene: SPEF2 were set to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype\nReview for gene: SPEF2 was set to AMBER\nAdded comment: 4 families reported with bi-allelic variants and sperm morphological abnormalities plus recurrent sinopulmonary infections and bronchiectasis, consistent with a PCD-like phenotype. Morphological abnormalities of the respiratory cilia were not observed. Mouse model recapitulated the infertility phenotype but also had hydrocephalus and sinusitis, again arguing for broader impact on ciliary function. Note other reports of individuals with bi-allelic variants and no respiratory phenotype reported. Given respiratory phenotype is milder and currently it is unclear in what proportion of individuals it is present, Amber rating on this panel for now. \nSources: Literature","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:41:15.800254+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2591","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPEF2 were changed from Spermatogenic failure 43, MIM#618751 to Spermatogenic failure 43, MIM#618751; Spermatogenic failure 43, MIM#618751; Primary ciliary dyskinesia-like phenotype","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:40:53.725045+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2590","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPEF2 were set to 31151990; 31278745; 31048344","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-23T06:40:23.515072+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2589","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SPEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942643; Phenotypes: Spermatogenic failure 43, MIM#618751, Primary ciliary dyskinesia-like phenotype; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPEF2","entity_type":"gene"},{"created":"2020-04-22T18:26:44.339114+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLC2 as ready","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:26:44.325741+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc2 has been classified as Green List (High Evidence).","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:26:39.684012+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLC2 as Green List (high evidence)","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:26:39.670726+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc2 has been classified as Green List (High Evidence).","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:26:27.076644+10:00","panel_name":"Hereditary Neuropathy - complex","panel_id":3070,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spastic paraplegia, optic atrophy, and neuropathy MIM#609541; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:25:30.890437+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLC2 as Green List (high evidence)","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:25:30.881873+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc2 has been classified as Green List (High Evidence).","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:25:14.631465+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KLC2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:23:56.390546+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2589","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLC2 as ready","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:23:56.378124+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc2 has been classified as Green List (High Evidence).","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:23:40.115991+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2589","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: KLC2.","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:23:18.217131+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2589","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KLC2 as Green List (high evidence)","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:23:18.207802+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2589","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klc2 has been classified as Green List (High Evidence).","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:23:00.280723+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2588","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KLC2 was added\ngene: KLC2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: KLC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KLC2 were set to 26385635\nPhenotypes for gene: KLC2 were set to Spastic paraplegia, optic atrophy, and neuropathy MIM#609541\nReview for gene: KLC2 was set to GREEN\nAdded comment: In 73 Brazilian patients and 2 sibs of Egyptian descent with SPOAN, a homozygous 216-bp deletion in the noncoding upstream region of the KLC2 gene was identified. Only reported cause of condition is the upstream large deletion, which is not detected by whole-exome sequencing. \nSources: Expert Review","entity_name":"KLC2","entity_type":"gene"},{"created":"2020-04-22T18:19:22.508497+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF12 as ready","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:19:22.499628+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif12 has been classified as Green List (High Evidence).","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:19:17.667993+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF12 as Green List (high evidence)","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:19:17.656056+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif12 has been classified as Green List (High Evidence).","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:18:47.284618+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KIF12 was added\ngene: KIF12 was added to Cholestasis. Sources: Expert list\nMode of inheritance for gene: KIF12 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KIF12 were set to 30250217; 30976738\nPhenotypes for gene: KIF12 were set to Cholestasis; High Gamma-Glutamyltransferase (GGT)\nReview for gene: KIF12 was set to GREEN\nAdded comment: Five unrelated consanguineous families, with four different homozygous variants identified, some truncating, others missense. \nSources: Expert list","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:17:32.924133+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2587","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KIF12 were changed from Prenatal cholestasis; High Gamma-Glutamyltransferase (GGT) to Cholestasis; High Gamma-Glutamyltransferase (GGT)","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:17:10.864136+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2586","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIF12 as ready","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:17:10.851718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2586","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif12 has been classified as Green List (High Evidence).","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:16:55.908808+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2586","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KIF12 were set to PMID: 30250217; 30976738","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:16:34.671588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2585","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIF12 as Green List (high evidence)","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:16:34.662874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2585","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kif12 has been classified as Green List (High Evidence).","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:16:10.358628+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2584","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KIF12: Rating: GREEN; Mode of pathogenicity: None; Publications: 30250217, 30976738; Phenotypes: Cholestasis; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KIF12","entity_type":"gene"},{"created":"2020-04-22T18:00:07.996669+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GCH1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Dopa-responsive dystonia, exercise-induced dystonia, Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, MIM# 128230; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GCH1","entity_type":"gene"},{"created":"2020-04-22T17:59:00.608545+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PNKD as ready","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-04-22T17:59:00.599898+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pnkd has been classified as Green List (High Evidence).","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-04-22T17:54:43.274357+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PNKD were changed from  to Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-04-22T17:54:13.305414+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PNKD was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-04-22T17:53:42.713901+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PNKD: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Paroxysmal nonkinesigenic dyskinesia 1, MIM# 118800; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PNKD","entity_type":"gene"},{"created":"2020-04-22T17:52:31.210456+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ECHS1 as ready","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-22T17:52:31.200556+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: echs1 has been classified as Green List (High Evidence).","entity_name":"ECHS1","entity_type":"gene"},{"created":"2020-04-22T17:52:28.407840+10:00","panel_name":"Paroxysmal Dyskinesia","panel_id":259,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ECHS1 were changed from early onset Leigh syndrome; later onset Leigh-like syndrome; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease) to Mitochondrial short-chain enoyl-CoA hydratase 1 deficiency, MIM# 616277; paroxysmal dyskinesia (isolated or with other features of a mitochondrial disease)","entity_name":"ECHS1","entity_type":"gene"}]}