{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1861","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1859","results":[{"created":"2020-04-16T09:38:32.144037+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ca8 has been classified as Green List (High Evidence).","entity_name":"CA8","entity_type":"gene"},{"created":"2020-04-16T09:38:19.101665+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AUTS2 were set to 17211639; 27075013; 22872102","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:37:59.215486+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AUTS2 were set to ","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:36:41.050125+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AUTS2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:36:14.258053+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AUTS2 as Red List (low evidence)","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:36:14.248845+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auts2 has been classified as Red List (Low Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:35:15.355976+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AUTS2 as Amber List (moderate evidence)","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:35:15.342876+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: auts2 has been classified as Amber List (Moderate Evidence).","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:34:43.125816+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: AUTS2.","entity_name":"AUTS2","entity_type":"gene"},{"created":"2020-04-16T09:33:35.778252+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: WDR37 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"WDR37","entity_type":"gene"},{"created":"2020-04-16T09:33:34.788799+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: B3GALNT2 as ready","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2020-04-16T09:33:34.775926+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3galnt2 has been classified as Green List (High Evidence).","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2020-04-16T09:32:43.692685+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: B3GALNT2 as Green List (high evidence)","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2020-04-16T09:32:43.678912+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: b3galnt2 has been classified as Green List (High Evidence).","entity_name":"B3GALNT2","entity_type":"gene"},{"created":"2020-04-16T09:32:30.894854+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLAA as ready","entity_name":"PLAA","entity_type":"gene"},{"created":"2020-04-16T09:32:30.885790+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plaa has been classified as Amber List (Moderate Evidence).","entity_name":"PLAA","entity_type":"gene"},{"created":"2020-04-16T09:31:25.549125+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CA8 as Green List (high evidence)","entity_name":"CA8","entity_type":"gene"},{"created":"2020-04-16T09:31:25.540133+10:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ca8 has been classified as Green List (High Evidence).","entity_name":"CA8","entity_type":"gene"},{"created":"2020-04-16T09:30:03.231751+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLAA were changed from  to Neurodevelopmental disorder with progressive microcephaly, spasticity, and brain anomalies (MIM#617527)","entity_name":"PLAA","entity_type":"gene"},{"created":"2020-04-16T09:27:51.104288+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RTN4IP1 as ready","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2020-04-16T09:27:51.095380+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rtn4ip1 has been classified as Green List (High Evidence).","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2020-04-16T09:25:45.543788+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.85","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PLAA were set to ","entity_name":"PLAA","entity_type":"gene"},{"created":"2020-04-16T09:25:32.901490+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC52A2 as ready","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-04-16T09:25:32.892326+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-04-16T09:25:21.819937+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RTN4IP1 as Green List (high evidence)","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2020-04-16T09:25:21.810488+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.84","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rtn4ip1 has been classified as Green List (High Evidence).","entity_name":"RTN4IP1","entity_type":"gene"},{"created":"2020-04-16T09:24:31.698162+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PBX1 as ready","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:24:31.692011+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree, cannot find evidence of association with OA.","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:24:31.645743+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbx1 has been classified as Red List (Low Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:24:14.261657+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.83","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PLAA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PLAA","entity_type":"gene"},{"created":"2020-04-16T09:23:51.874047+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLAA as Amber List (moderate evidence)","entity_name":"PLAA","entity_type":"gene"},{"created":"2020-04-16T09:23:51.861001+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.82","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plaa has been classified as Amber List (Moderate Evidence).","entity_name":"PLAA","entity_type":"gene"},{"created":"2020-04-16T09:22:01.864136+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.81","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PBX1 were changed from  to Congenital anomalies of kidney and urinary tract syndrome with or without hearing loss, abnormal ears, or developmental delay","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:21:11.067111+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MFF as ready","entity_name":"MFF","entity_type":"gene"},{"created":"2020-04-16T09:21:11.062969+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Optic atrophy is a common feature of this mitochondrial disorder.","entity_name":"MFF","entity_type":"gene"},{"created":"2020-04-16T09:21:11.031833+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mff has been classified as Green List (High Evidence).","entity_name":"MFF","entity_type":"gene"},{"created":"2020-04-16T09:20:46.137271+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MFF as Green List (high evidence)","entity_name":"MFF","entity_type":"gene"},{"created":"2020-04-16T09:20:46.124225+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.80","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mff has been classified as Green List (High Evidence).","entity_name":"MFF","entity_type":"gene"},{"created":"2020-04-16T09:19:47.583572+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC52A2 as Green List (high evidence)","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-04-16T09:19:47.570353+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.79","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2020-04-16T09:19:39.957443+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FDXR as ready","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-04-16T09:19:39.948874+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: fdxr has been classified as Green List (High Evidence).","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-04-16T09:19:03.038874+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.78","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PBX1 were set to ","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:18:40.910151+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AFG3L2 as ready","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-04-16T09:18:40.905245+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Please note OA has only been associated with a specific variant in this gene, R468C. The variant is de novo in some of the families, suggesting a hotspot rather than founder effect.","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-04-16T09:18:40.855999+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: afg3l2 has been classified as Green List (High Evidence).","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-04-16T09:18:20.633940+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PBX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:18:01.250691+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.77","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FDXR were changed from  to Auditory neuropathy and optic atrophy, MIM#617717","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-04-16T09:17:29.407847+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PBX1 as Red List (low evidence)","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:17:29.398812+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.76","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pbx1 has been classified as Red List (Low Evidence).","entity_name":"PBX1","entity_type":"gene"},{"created":"2020-04-16T09:15:53.839808+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.75","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: FDXR were set to ","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-04-16T09:15:29.228322+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.74","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FDXR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FDXR","entity_type":"gene"},{"created":"2020-04-16T09:14:25.993664+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AFG3L2 were changed from  to Spastic ataxia 5, autosomal recessive (MIM#614487); Spinocerebellar ataxia 28 (MIM#610246)","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-04-16T09:14:07.936783+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TIMM8A as ready","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-16T09:14:07.925996+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm8a has been classified as Amber List (Moderate Evidence).","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-16T09:13:38.422010+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TIMM8A were changed from  to Mohr-Tranebjaerg syndrome (MIM#304700)","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-16T09:13:00.308417+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.71","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AFG3L2 were set to ","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-04-16T09:12:02.101479+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AFG3L2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AFG3L2","entity_type":"gene"},{"created":"2020-04-16T09:10:47.904018+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TIMM8A were set to ","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-16T09:10:20.356989+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: C19orf12 as ready","entity_name":"C19orf12","entity_type":"gene"},{"created":"2020-04-16T09:10:20.352773+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: OA associated both with mono-allelic and bi-allelic variants in this gene, and has been reported in families both with SPG and NBIA.","entity_name":"C19orf12","entity_type":"gene"},{"created":"2020-04-16T09:10:20.320568+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf12 has been classified as Green List (High Evidence).","entity_name":"C19orf12","entity_type":"gene"},{"created":"2020-04-16T09:09:37.268685+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: C19orf12 as Green List (high evidence)","entity_name":"C19orf12","entity_type":"gene"},{"created":"2020-04-16T09:09:37.255663+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: c19orf12 has been classified as Green List (High Evidence).","entity_name":"C19orf12","entity_type":"gene"},{"created":"2020-04-16T09:08:22.049172+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TIMM8A was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-16T09:07:58.763646+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TIMM8A as Amber List (moderate evidence)","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-16T09:07:58.750101+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: timm8a has been classified as Amber List (Moderate Evidence).","entity_name":"TIMM8A","entity_type":"gene"},{"created":"2020-04-16T09:06:44.624471+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POLG as ready","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:06:44.618499+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Note there is only evidence for association between bi-allelic variants and OA, and even so, the evidence is limited.","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:06:44.572954+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Amber List (Moderate Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:06:40.626680+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POLG were changed from  to Mitochondrial DNA depletion syndrome 4A (Alpers type) 203700; Mitochondrial DNA depletion syndrome 4B (MNGIE type) 613662; Mitochondrial recessive ataxia syndrome (includes SANDO and SCAE) 607459; Progressive external ophthalmoplegia, autosomal recessive 1 258450","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:06:17.207927+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POLG were set to ","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:05:29.229836+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POLG was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:05:02.527918+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: POLG as Amber List (moderate evidence)","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:05:02.514048+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: polg has been classified as Amber List (Moderate Evidence).","entity_name":"POLG","entity_type":"gene"},{"created":"2020-04-16T09:03:39.625556+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNM1L as ready","entity_name":"DNM1L","entity_type":"gene"},{"created":"2020-04-16T09:03:39.612229+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm1l has been classified as Green List (High Evidence).","entity_name":"DNM1L","entity_type":"gene"},{"created":"2020-04-16T09:03:36.682985+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNM1L as Green List (high evidence)","entity_name":"DNM1L","entity_type":"gene"},{"created":"2020-04-16T09:03:36.673829+10:00","panel_name":"Optic Atrophy","panel_id":149,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnm1l has been classified as Green List (High Evidence).","entity_name":"DNM1L","entity_type":"gene"},{"created":"2020-04-16T08:19:29.543015+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC18A2 as ready","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:19:29.533789+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a2 has been classified as Green List (High Evidence).","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:19:25.098868+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC18A2 as Green List (high evidence)","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:19:25.088338+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.3","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a2 has been classified as Green List (High Evidence).","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:18:56.962360+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC18A2 was added\ngene: SLC18A2 was added to Neurotransmitter Defects. Sources: Expert Review\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A2 were set to 23363473; 31240161; 26497564; 9427250; 11463816; 9427251\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM#\t618049\nReview for gene: SLC18A2 was set to GREEN\nAdded comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. Three mouse models. \nSources: Expert Review","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:15:05.750019+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC18A2 as ready","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:15:05.736025+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a2 has been classified as Green List (High Evidence).","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:14:58.555473+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC18A2 as Green List (high evidence)","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:14:58.546012+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc18a2 has been classified as Green List (High Evidence).","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T08:14:50.463527+10:00","panel_name":"Dystonia - complex","panel_id":290,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC18A2 was added\ngene: SLC18A2 was added to Dystonia - complex. Sources: Expert Review\nMode of inheritance for gene: SLC18A2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC18A2 were set to 23363473; 31240161; 26497564\nPhenotypes for gene: SLC18A2 were set to Parkinsonism-dystonia, infantile, 2, MIM#\t618049\nReview for gene: SLC18A2 was set to GREEN\nAdded comment: At least three unrelated families reported, potential treatment implications. Associated with intellectual disability and epilepsy as well as prominent movement disorder. \nSources: Expert Review","entity_name":"SLC18A2","entity_type":"gene"},{"created":"2020-04-16T06:30:38.840184+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACOX2 as ready","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:30:38.833843+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:30:38.802265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acox2 has been classified as Amber List (Moderate Evidence).","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:30:25.994800+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACOX2 as Amber List (moderate evidence)","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:30:25.984403+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acox2 has been classified as Amber List (Moderate Evidence).","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:30:11.595679+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Comment when marking as ready: Two unrelated families reported.; to: Comment when marking as ready: Two unrelated families reported. The ACOX2 gene encodes a peroxisomal branched-chain acyl-CoA oxidase involved in bile acid synthesis.","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:29:30.370663+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2289","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACOX2 was added\ngene: ACOX2 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ACOX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ACOX2 were set to 27647924; 27884763\nPhenotypes for gene: ACOX2 were set to Bile acid synthesis defect, congenital, 6, 617308\nReview for gene: ACOX2 was set to AMBER\nAdded comment: Two unrelated families reported. \nSources: Expert Review","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:28:00.727838+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACOX2 as ready","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:28:00.721366+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Two unrelated families reported.","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:28:00.673582+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acox2 has been classified as Amber List (Moderate Evidence).","entity_name":"ACOX2","entity_type":"gene"},{"created":"2020-04-16T06:27:49.802282+10:00","panel_name":"Peroxisomal Disorders","panel_id":155,"panel_version":"0.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ACOX2 as Amber List (moderate evidence)","entity_name":"ACOX2","entity_type":"gene"}]}