{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1379","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1377","results":[{"created":"2021-03-20T11:21:27.876903+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.250","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cspp1 has been classified as Red List (Low Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:20:58.123732+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.249","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSPP1: Rating: RED; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:20:51.198275+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSPP1 were set to ","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:20:12.798194+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:19:57.551551+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSPP1 as ready","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:19:57.541560+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cspp1 has been classified as Green List (High Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:19:46.855613+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSPP1 were changed from  to Joubert syndrome 21, MIM# 615636; MONDO:0014288","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:19:40.906052+11:00","panel_name":"Renal Ciliopathies and Nephronophthisis","panel_id":193,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:19:21.244561+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSPP1 were set to ","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:18:49.697990+11:00","panel_name":"Polydactyly","panel_id":159,"panel_version":"0.184","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:17:57.468200+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3533","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSPP1 as ready","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:17:57.458150+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3533","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cspp1 has been classified as Green List (High Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:17:53.461028+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3533","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSPP1 were changed from  to Joubert syndrome 21, MIM# 615636; MONDO:0014288","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:17:25.180151+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3532","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSPP1 were set to ","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:16:53.959405+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3531","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:16:21.416298+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3530","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:15:30.492662+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6788","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSPP1 as ready","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:15:30.482686+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6788","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cspp1 has been classified as Green List (High Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:15:23.526981+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6788","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSPP1 were changed from  to Joubert syndrome 21, MIM# 615636; MONDO:0014288","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:15:04.433829+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6787","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSPP1 were set to ","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:14:38.098323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6786","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:14:18.764454+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6785","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:13:56.589219+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: More than 20 unrelated families reported.; to: More than 20 unrelated families reported. Classically associated with Joubert syndrome; however, note 4 individuals reported with features consistent with Jeune asphyxiating thoracic dystrophy, including short ribs, bell-shaped chest, and pulmonary hypoplasia.","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:13:16.024162+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6785","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636, MONDO:0014288; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:12:40.681342+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.117","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:12:28.391260+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSPP1 as ready","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:12:28.366288+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cspp1 has been classified as Green List (High Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:12:25.604278+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSPP1 were changed from Joubert syndrome 21, MIM# 615636 to Joubert syndrome 21, MIM# 615636; MONDO:0014288","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:11:51.392720+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSPP1 were changed from  to Joubert syndrome 21, MIM# 615636","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:11:20.635765+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSPP1 were set to ","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:10:52.960258+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:10:28.983580+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:09:45.747420+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSPP1 as ready","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:09:45.738585+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cspp1 has been classified as Green List (High Evidence).","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:09:43.598131+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.116","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CSPP1 were changed from  to Joubert syndrome 21, MIM# 615636","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:09:26.370084+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.115","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CSPP1 were set to ","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:08:57.056878+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CSPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-20T11:08:27.720679+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CSPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24360808, 24360803, 24360807, 25997910; Phenotypes: Joubert syndrome 21, MIM# 615636; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CSPP1","entity_type":"gene"},{"created":"2021-03-19T21:09:48.301473+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6785","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP41 as ready","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:09:48.291127+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6785","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep41 has been classified as Green List (High Evidence).","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:09:35.558396+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6785","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP41 were changed from  to Joubert syndrome 15, MIM# 614464","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:09:08.174220+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6784","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP41 were set to ","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:08:48.321604+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6783","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:08:31.273316+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6782","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:07:51.665006+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP41 as ready","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:07:51.654176+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep41 has been classified as Green List (High Evidence).","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:07:49.012702+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP41 were changed from  to Joubert syndrome 15, MIM# 614464","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:07:18.292111+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP41 were set to ","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:06:49.665391+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:06:24.562427+11:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:05:38.248344+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP41 as ready","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:05:38.237613+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep41 has been classified as Green List (High Evidence).","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:05:17.423790+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CEP41 were changed from  to Joubert syndrome 15, MIM# 614464","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:04:41.796385+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: CEP41 were set to ","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:01:27.168661+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.111","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CEP41 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T21:00:56.600224+11:00","panel_name":"Joubert syndrome and other neurological ciliopathies","panel_id":129,"panel_version":"0.110","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CEP41: Rating: GREEN; Mode of pathogenicity: None; Publications: 22246503; Phenotypes: Joubert syndrome 15, MIM# 614464; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CEP41","entity_type":"gene"},{"created":"2021-03-19T16:16:32.400620+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6782","user_name":"Bryony Thompson","item_type":"entity","text":"Marked STR: SCA1 as ready","entity_name":"SCA1","entity_type":"str"},{"created":"2021-03-19T16:16:32.391235+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6782","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca1 has been classified as Green List (High Evidence).","entity_name":"SCA1","entity_type":"str"},{"created":"2021-03-19T16:16:10.247381+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6782","user_name":"Bryony Thompson","item_type":"entity","text":"edited their review of STR: SCA1: Changed rating: GREEN","entity_name":"SCA1","entity_type":"str"},{"created":"2021-03-19T16:16:09.292054+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6782","user_name":"Bryony Thompson","item_type":"entity","text":"Classified STR: SCA1 as Green List (high evidence)","entity_name":"SCA1","entity_type":"str"},{"created":"2021-03-19T16:16:09.281076+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6782","user_name":"Bryony Thompson","item_type":"entity","text":"Str: sca1 has been classified as Green List (High Evidence).","entity_name":"SCA1","entity_type":"str"},{"created":"2021-03-19T16:15:24.269154+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6781","user_name":"Bryony Thompson","item_type":"entity","text":"STR: SCA1 was added\nSTR: SCA1 was added to Mendeliome. Sources: Expert list\nMode of inheritance for STR: SCA1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for STR: SCA1 were set to 29325606; 20301363\nPhenotypes for STR: SCA1 were set to Spinocerebellar ataxia 1 MIM#164400\nSTR: SCA1 was marked as clinically relevant\nAdded comment: NM_000332.3:c.589_591CAG[X]\r\nToxic protein aggregation is mechanism of disease\r\nNormal: ≤35 CAG repeats or 36-44 CAG repeats with CAT interruptions\r\nMutable normal (intermediate): 36-38 CAG repeats without CAT interruptions\r\nFull-penetrance: ≥39 CAG repeats without CAT interruptions or ≥46 uninterrupted CAG repeats with CAT interruptions and additional CAGs \nSources: Expert list","entity_name":"SCA1","entity_type":"str"},{"created":"2021-03-19T16:12:28.216630+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6780","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: ATXN1 as No list","entity_name":"ATXN1","entity_type":"gene"},{"created":"2021-03-19T16:12:28.207639+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6780","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: atxn1 has been removed from the panel.","entity_name":"ATXN1","entity_type":"gene"},{"created":"2021-03-19T14:55:51.364170+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RANBP2 as ready","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:55:51.352210+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ranbp2 has been classified as Green List (High Evidence).","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:55:20.307879+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: RANBP2 as ready","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:55:20.297324+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ranbp2 has been classified as Green List (High Evidence).","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:55:10.375636+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: RANBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: 19118815, 25128471, 25522933, 32048120; Phenotypes: {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:54:33.139943+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: RANBP2 as Green List (high evidence)","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:54:33.131086+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.65","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ranbp2 has been classified as Green List (High Evidence).","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:54:01.545540+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.64","user_name":"Bryony Thompson","item_type":"entity","text":"gene: RANBP2 was added\ngene: RANBP2 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: RANBP2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RANBP2 were set to 19118815; 25128471; 25522933; 32048120\nPhenotypes for gene: RANBP2 were set to {Encephalopathy, acute, infection-induced, 3, susceptibility to} MIM#608033\nReview for gene: RANBP2 was set to GREEN\nAdded comment: >3 unrelated cases reported, many with the same variant which was shown to arise independently and not a founder mutation. \nSources: Expert list","entity_name":"RANBP2","entity_type":"gene"},{"created":"2021-03-19T14:35:58.201486+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NBAS as ready","entity_name":"NBAS","entity_type":"gene"},{"created":"2021-03-19T14:35:58.190685+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nbas has been classified as Green List (High Evidence).","entity_name":"NBAS","entity_type":"gene"},{"created":"2021-03-19T14:35:47.871346+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NBAS as Green List (high evidence)","entity_name":"NBAS","entity_type":"gene"},{"created":"2021-03-19T14:35:47.862039+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.63","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nbas has been classified as Green List (High Evidence).","entity_name":"NBAS","entity_type":"gene"},{"created":"2021-03-19T14:35:02.958685+11:00","panel_name":"Predominantly Antibody Deficiency","panel_id":222,"panel_version":"0.66","user_name":"Bryony Thompson","item_type":"panel","text":"removed gene:NBAS from the panel","entity_name":null,"entity_type":null},{"created":"2021-03-19T14:34:48.541806+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.62","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NBAS was added\ngene: NBAS was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: NBAS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: NBAS were set to 26073778; 26286438; 33042920\nPhenotypes for gene: NBAS were set to Short stature, optic nerve atrophy, and Pelger-Huet anomaly MIM#614800; Infantile liver failure syndrome 2 MIM#616483\nReview for gene: NBAS was set to GREEN\nAdded comment: Immunological abnormalities (characterized by hypogammaglobulinemia, low T-cells, and near-absent B-cells) leading to recurrent ear and upper and lower respiratory-tract infections have been reported in at least 15 patients \nSources: Expert list","entity_name":"NBAS","entity_type":"gene"},{"created":"2021-03-19T14:30:37.488748+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.61","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PSEN1 as Green List (high evidence)","entity_name":"PSEN1","entity_type":"gene"},{"created":"2021-03-19T14:30:37.479147+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.61","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psen1 has been classified as Green List (High Evidence).","entity_name":"PSEN1","entity_type":"gene"},{"created":"2021-03-19T14:29:53.745103+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.60","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PSEN1 was added\ngene: PSEN1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: PSEN1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSEN1 were set to 20929727; 32048120; 33333507; 30544224\nPhenotypes for gene: PSEN1 were set to ?Acne inversa, familial, 3 MIM#613737\nReview for gene: PSEN1 was set to GREEN\nAdded comment: 4 families (1 with segregation data) with 3 putative loss of function variants, and supporting functional assays demonstrating that loss of function is the mechanism of disease (unlike dominant-negative variants that cause Alzheimer's disease). \nSources: Expert list","entity_name":"PSEN1","entity_type":"gene"},{"created":"2021-03-19T13:37:05.007280+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NCSTN as ready","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:37:04.994294+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ncstn has been classified as Green List (High Evidence).","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:36:54.477495+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NCSTN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 32048120; Phenotypes: Acne inversa, familial, 1 MIM#142690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:35:29.003941+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.59","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: NCSTN as ready","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:35:28.991612+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.59","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ncstn has been classified as Green List (High Evidence).","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:35:25.543674+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.59","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NCSTN as Green List (high evidence)","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:35:25.536066+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.59","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ncstn has been classified as Green List (High Evidence).","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:34:55.973437+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.58","user_name":"Bryony Thompson","item_type":"entity","text":"gene: NCSTN was added\ngene: NCSTN was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: NCSTN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NCSTN were set to 20929727; 21412258; 32048120\nPhenotypes for gene: NCSTN were set to Acne inversa, familial, 1 MIM#142690\nReview for gene: NCSTN was set to GREEN\nAdded comment: >3 families reported with acne inversa (also known as hidradenitis suppurativa) \nSources: Expert list","entity_name":"NCSTN","entity_type":"gene"},{"created":"2021-03-19T13:29:38.414502+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSENEN as ready","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:29:38.404869+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psenen has been classified as Green List (High Evidence).","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:29:24.487123+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6779","user_name":"Bryony Thompson","item_type":"entity","text":"Phenotypes for gene: PSENEN were changed from  to Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:29:09.347413+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6778","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: PSENEN were set to ","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:28:53.118409+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6777","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: PSENEN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:28:30.134551+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6776","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: PSENEN: Rating: GREEN; Mode of pathogenicity: None; Publications: 20929727, 21412258, 27900998; Phenotypes: Acne inversa, familial, 2, with or without Dowling-Degos disease MIM#613736; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:27:08.215206+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PSENEN as ready","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:27:08.203360+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psenen has been classified as Green List (High Evidence).","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:26:51.498662+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PSENEN as Green List (high evidence)","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:26:51.487066+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.57","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: psenen has been classified as Green List (High Evidence).","entity_name":"PSENEN","entity_type":"gene"},{"created":"2021-03-19T13:26:23.173118+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.56","user_name":"Bryony Thompson","item_type":"entity","text":"changed review comment from: >3 cases reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition \nSources: Expert list; to: >3 families reported with acne inversa (also known as hidradenitis suppurativa), which is a chronic inflammatory skin condition \r\nSources: Expert list","entity_name":"PSENEN","entity_type":"gene"}]}