{"count":220249,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1409","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1407","results":[{"created":"2021-02-14T18:13:23.179208+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6380","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEPSECS were changed from  to Pontocerebellar hypoplasia type 2D, 613811; cerebellar ataxia and cognitive impairment","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:13:01.796660+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6379","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEPSECS were set to ","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:12:41.189584+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6378","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:12:22.740385+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6377","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:31.520921+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SEPSECS as ready","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:31.510099+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sepsecs has been classified as Green List (High Evidence).","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:28.972778+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SEPSECS were changed from  to Pontocerebellar hypoplasia type 2D, MIM# 613811","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:11:01.949687+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SEPSECS were set to ","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:10:33.734252+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SEPSECS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:10:05.218247+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SEPSECS: Rating: GREEN; Mode of pathogenicity: None; Publications: 20920667, 25044680, 31748115, 29464431; Phenotypes: Pontocerebellar hypoplasia type 2D, MIM# 613811; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SEPSECS","entity_type":"gene"},{"created":"2021-02-14T18:05:53.230444+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RELN as ready","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:05:53.219019+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: reln has been classified as Red List (Low Evidence).","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:05:50.242941+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RELN were changed from  to Lissencephaly 2 (Norman-Roberts type), MIM# 257320","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:05:22.227461+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELN were set to ","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:04:55.301516+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RELN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:04:28.273805+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RELN as Red List (low evidence)","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:04:28.266647+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: reln has been classified as Red List (Low Evidence).","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:03:59.831495+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RELN: Rating: RED; Mode of pathogenicity: None; Publications: 27000652; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RELN","entity_type":"gene"},{"created":"2021-02-14T18:01:12.348667+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RARS2 as ready","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-02-14T18:01:12.337870+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rars2 has been classified as Green List (High Evidence).","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-02-14T18:01:09.528674+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RARS2 were changed from  to Pontocerebellar hypoplasia, type 6, MIM# 611523","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-02-14T18:00:43.184814+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RARS2 were set to ","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-02-14T18:00:15.784988+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RARS2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-02-14T17:59:44.306440+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17847012, 20635367, 25809939; Phenotypes: Pontocerebellar hypoplasia, type 6, MIM# 611523; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RARS2","entity_type":"gene"},{"created":"2021-02-14T17:55:59.571590+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC3 as ready","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:55:59.557736+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc3 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:54:31.785312+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC3 were changed from  to Spinocerebellar ataxia 13, MIM# 605259","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:53:57.570996+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC3 were set to ","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:53:27.239063+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:52:59.466956+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNC3 as Amber List (moderate evidence)","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:52:59.454959+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc3 has been classified as Amber List (Moderate Evidence).","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:52:30.821874+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNC3: Rating: AMBER; Mode of pathogenicity: None; Publications: 16501573, 25497598, 25981959; Phenotypes: Spinocerebellar ataxia 13, MIM# 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-02-14T17:50:10.880000+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6377","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Gillespie syndrome is usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.; to: Gillespie syndrome: usually diagnosed in the first year of life by the presence of fixed dilated pupils in a hypotonic infant. Affected individuals have a characteristic form of iris hypoplasia in which the pupillary border of the iris exhibits a scalloped or 'festooned' edge, with iris strands extending onto the anterior lens surface at regular intervals. The key extraocular features of Gillespie syndrome are congenital hypotonia, progressive cerebellar hypoplasia, and ataxia, as well as variable cognitive impairment that is usually mild. Multiple families reported with bi-allelic or de novo heterozygous variants.","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:49:53.478592+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6377","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITPR1 as ready","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:49:53.468375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6377","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpr1 has been classified as Green List (High Evidence).","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:49:45.377783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6377","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITPR1 were changed from  to Gillespie syndrome, MIM# 206700; Spinocerebellar ataxia 15 MIM#606658; Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:49:21.388925+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6376","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITPR1 were set to ","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:48:54.922230+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6375","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:48:25.027010+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:47:43.916185+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITPR1 as ready","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:47:43.905907+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpr1 has been classified as Green List (High Evidence).","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:47:41.202203+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ITPR1 were changed from  to Gillespie syndrome, MIM# 206700","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:47:12.179547+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ITPR1 were set to ","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:46:44.591187+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ITPR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:46:01.712379+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ITPR1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27108797, 31340402, 30242502, 29169895; Phenotypes: Gillespie syndrome, MIM# 206700; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-02-14T17:43:31.542868+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC8 as ready","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:43:31.531764+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc8 has been classified as Green List (High Evidence).","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:43:20.103141+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6374","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC8 were changed from  to Pontocerebellar hypoplasia, type 1C, MIM# 616081","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:42:53.638375+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6373","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC8 were set to ","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:42:32.175390+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6372","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:42:10.598731+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: EXOSC8.","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:41:58.752847+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:41:51.669438+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: EXOSC8.","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:41:36.868583+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC8 as ready","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:41:36.857494+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc8 has been classified as Green List (High Evidence).","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:41:34.229947+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC8 were changed from  to Pontocerebellar hypoplasia, type 1C, MIM# 616081","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:40:24.306395+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.183","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC8 were set to ","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:39:30.895054+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.182","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T17:39:00.762618+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOSC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 24989451; Phenotypes: Pontocerebellar hypoplasia, type 1C, MIM# 616081; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC8","entity_type":"gene"},{"created":"2021-02-14T13:56:05.777944+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC3 as ready","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:56:05.767347+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Green List (High Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:55:58.006556+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6371","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC3 were changed from  to Pontocerebellar hypoplasia, type 1B, MIM# 614678","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:55:44.034799+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6370","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC3 were set to ","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:55:25.318057+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6369","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:54:59.772777+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:53:49.093245+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: EXOSC3 as ready","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:53:49.084661+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: exosc3 has been classified as Green List (High Evidence).","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:53:46.843113+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.181","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: EXOSC3 were changed from  to Pontocerebellar hypoplasia, type 1B, MIM# 614678","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:53:22.333800+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.180","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: EXOSC3 were set to ","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:52:54.849134+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.179","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: EXOSC3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:51:37.765148+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: EXOSC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 22544365, 23284067, 24524299; Phenotypes: Pontocerebellar hypoplasia, type 1B, MIM# 614678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"EXOSC3","entity_type":"gene"},{"created":"2021-02-14T13:48:56.354146+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3449","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLP1 as ready","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:48:56.343422+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3449","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clp1 has been classified as Green List (High Evidence).","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:48:52.455111+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3449","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLP1 were changed from  to Pontocerebellar hypoplasia type 10, MIM# 615803","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:48:24.080296+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3448","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLP1 were set to ","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:47:58.431187+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3447","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:47:25.140912+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3446","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CLP1.","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:47:14.747877+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3446","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:46:33.261608+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CLP1.","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:46:10.724334+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLP1 as ready","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:46:10.716426+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clp1 has been classified as Green List (High Evidence).","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:46:03.066931+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6368","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLP1 were changed from  to Pontocerebellar hypoplasia type 10, MIM# 615803","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:45:35.348985+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6367","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLP1 were set to ","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:45:14.461308+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6366","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:44:55.968563+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6365","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809, 29307788; Phenotypes: Pontocerebellar hypoplasia type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:40:46.506381+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLP1: Changed publications: 24766809, 29307788","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:40:26.432417+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: CLP1: Changed publications: 29307788","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:40:03.331781+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CLP1 as ready","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:40:03.323075+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: clp1 has been classified as Green List (High Evidence).","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:40:00.129733+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.178","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLP1 were set to 24766809","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T13:39:37.421730+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.177","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CLP1 were changed from  to Pontocerebellar hypoplasia, type 10, MIM# 615803","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T08:13:28.045607+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CLP1 were set to ","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T08:11:49.961320+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.175","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CLP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T08:11:23.015589+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: CLP1.","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-14T08:11:11.855447+11:00","panel_name":"Cerebellar and Pontocerebellar Hypoplasia","panel_id":72,"panel_version":"0.174","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CLP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24766809; Phenotypes: Pontocerebellar hypoplasia, type 10, MIM# 615803; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLP1","entity_type":"gene"},{"created":"2021-02-13T22:04:22.796488+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3446","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHMP1A as ready","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2021-02-13T22:04:22.785594+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3446","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chmp1a has been classified as Green List (High Evidence).","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2021-02-13T22:04:17.798998+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3446","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CHMP1A were changed from  to Pontocerebellar hypoplasia, type 8, MIM# 614961","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2021-02-13T22:03:50.500725+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3445","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CHMP1A were set to ","entity_name":"CHMP1A","entity_type":"gene"},{"created":"2021-02-13T22:03:21.954239+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3444","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CHMP1A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CHMP1A","entity_type":"gene"}]}