{"count":221303,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1655","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1653","results":[{"created":"2020-08-26T17:11:11.371652+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.801","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPRL2 as ready","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:11:11.362900+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.801","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nprl2 has been classified as Green List (High Evidence).","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:11:05.661761+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.801","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPRL2 were changed from  to Epilepsy, familial focal, with variable foci 2\t617116; focal seizures; frontal lobe epilepsy; nocturnal frontal lobe epilepsy; temporal lobe epilepsy; focal cortical dysplasia","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:10:40.075853+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.800","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPRL2 were set to ","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:10:16.004439+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.799","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPRL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:09:24.868812+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPRL2 as ready","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:09:24.858279+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nprl2 has been classified as Amber List (Moderate Evidence).","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:09:06.790814+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPRL2 were changed from  to Focal epilepsy; Focal cortical dysplasia","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:08:45.278599+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPRL2 were set to ","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:08:23.599548+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPRL2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:08:01.521658+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NPRL2 as Amber List (moderate evidence)","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:08:01.512049+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nprl2 has been classified as Amber List (Moderate Evidence).","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T17:07:53.179787+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.111","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SNAP29 as ready","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:07:53.170960+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.111","user_name":"Seb Lunke","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:07:45.120230+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.111","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SNAP29 as Green List (high evidence)","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:07:45.107746+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.111","user_name":"Seb Lunke","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:06:51.837199+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SNAP29 as ready","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:06:51.828982+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: snap29 has been classified as Green List (High Evidence).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:06:49.185706+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.70","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SNAP29 were changed from  to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:06:33.254430+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SRD5A3 as ready","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:06:33.242571+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Gene: srd5a3 has been classified as Red List (Low Evidence).","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:06:28.777829+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.69","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SNAP29 were set to ","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:06:07.986287+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SNAP29 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T17:05:49.921766+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SRD5A3 as Red List (low evidence)","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:05:49.910095+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.110","user_name":"Seb Lunke","item_type":"entity","text":"Gene: srd5a3 has been classified as Red List (Low Evidence).","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:04:56.423764+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DEPDC5 as ready","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2020-08-26T17:04:56.414425+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: depdc5 has been classified as Green List (High Evidence).","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2020-08-26T17:04:53.648729+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DEPDC5 were changed from  to Epilepsy, familial focal, with variable foci 1 (MIM#604364)","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2020-08-26T17:04:33.283135+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DEPDC5 were set to 31444548","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2020-08-26T17:04:14.198882+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DEPDC5 were set to ","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2020-08-26T17:04:02.390743+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SRD5A3 as ready","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:04:02.376925+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srd5a3 has been classified as Red List (Low Evidence).","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:03:48.925451+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DEPDC5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"DEPDC5","entity_type":"gene"},{"created":"2020-08-26T17:03:12.655227+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SRD5A3 were changed from  to Congenital disorder of glycosylation, type Iq (MIM#612379)","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:02:46.790713+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SRD5A3 were set to ","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:02:31.558680+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.65","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DCHS1 as ready","entity_name":"DCHS1","entity_type":"gene"},{"created":"2020-08-26T17:02:31.546867+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.65","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dchs1 has been classified as Green List (High Evidence).","entity_name":"DCHS1","entity_type":"gene"},{"created":"2020-08-26T17:02:17.446528+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.65","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DCHS1 as Green List (high evidence)","entity_name":"DCHS1","entity_type":"gene"},{"created":"2020-08-26T17:02:17.437007+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.65","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dchs1 has been classified as Green List (High Evidence).","entity_name":"DCHS1","entity_type":"gene"},{"created":"2020-08-26T17:02:03.870924+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SRD5A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:01:39.109007+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SRD5A3 as Red List (low evidence)","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:01:39.100723+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: srd5a3 has been classified as Red List (Low Evidence).","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T17:00:05.801175+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSDHL as ready","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T17:00:05.786017+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsdhl has been classified as Amber List (Moderate Evidence).","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T17:00:00.577652+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSDHL as Amber List (moderate evidence)","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T17:00:00.568726+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsdhl has been classified as Amber List (Moderate Evidence).","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:59:19.420271+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NSDHL as ready","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:59:19.404292+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsdhl has been classified as Amber List (Moderate Evidence).","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:59:16.770460+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.109","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NSDHL were changed from  to CK syndrome 300831","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:58:48.829708+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.108","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NSDHL were set to ","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:58:31.955903+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.107","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: DAG1 as ready","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:58:31.945573+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.107","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dag1 has been classified as Red List (Low Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:58:31.321391+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NSDHL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:58:17.650849+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.107","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DAG1 as Red List (low evidence)","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:58:17.636252+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.107","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dag1 has been classified as Red List (Low Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:58:03.219467+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: NSDHL as Amber List (moderate evidence)","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:58:03.208281+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nsdhl has been classified as Amber List (Moderate Evidence).","entity_name":"NSDHL","entity_type":"gene"},{"created":"2020-08-26T16:57:45.320162+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.106","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: DAG1 as Red List (low evidence)","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:57:45.311368+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.106","user_name":"Seb Lunke","item_type":"entity","text":"Gene: dag1 has been classified as Red List (Low Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:49:21.779334+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM216 as ready","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:49:21.770741+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Red List (Low Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:49:19.684730+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.105","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM216 were changed from Joubert syndrome 2 (MIM#608091) to Joubert syndrome 2 (MIM#608091)","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:48:57.388076+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM216 were set to 20512146","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:48:31.455403+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM216 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:48:14.714501+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM216 as Red List (low evidence)","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:48:14.705148+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Red List (Low Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:46:51.000448+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM216 as ready","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:46:50.986007+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Red List (Low Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:46:45.165495+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM216 were changed from  to Joubert syndrome 2 (MIM#608091)","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:46:17.662470+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM216 were set to ","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:45:49.151392+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TMEM216 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:45:37.969916+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.98","user_name":"Paul De Fazio","item_type":"entity","text":"gene: PEX6 was added\ngene: PEX6 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: PEX6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PEX6 were set to 21031596; 9877282; 26700162\nPhenotypes for gene: PEX6 were set to Peroxisome biogenesis disorder 4A (Zellweger) (MIM#614862)\nReview for gene: PEX6 was set to GREEN\ngene: PEX6 was marked as current diagnostic\nAdded comment: Variants in this gene account for 14.5% of Zellweger Spectrum Disorder patients according to GeneReviews (https://www.ncbi.nlm.nih.gov/books/NBK1448/). Genetic spectrum of 77 patients reviewed in PMID: 19877282.\r\n\r\nPMID: 26700162, 22894767, and 28452594 describe three patients with polymicrogyria. Did not look further for others but they possibly exist. \nSources: Literature","entity_name":"PEX6","entity_type":"gene"},{"created":"2020-08-26T16:45:28.138869+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TMEM216 as Red List (low evidence)","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:45:28.128596+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem216 has been classified as Red List (Low Evidence).","entity_name":"TMEM216","entity_type":"gene"},{"created":"2020-08-26T16:44:24.558661+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OSGEP as ready","entity_name":"OSGEP","entity_type":"gene"},{"created":"2020-08-26T16:44:24.549305+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: osgep has been classified as Green List (High Evidence).","entity_name":"OSGEP","entity_type":"gene"},{"created":"2020-08-26T16:44:21.251952+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: OSGEP as Green List (high evidence)","entity_name":"OSGEP","entity_type":"gene"},{"created":"2020-08-26T16:44:21.235919+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: osgep has been classified as Green List (High Evidence).","entity_name":"OSGEP","entity_type":"gene"},{"created":"2020-08-26T16:43:21.571168+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DAG1 as ready","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:43:21.562618+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dag1 has been classified as Red List (Low Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:43:16.884231+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DAG1 as Red List (low evidence)","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:43:16.875829+10:00","panel_name":"Cobblestone Malformations","panel_id":6,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dag1 has been classified as Red List (Low Evidence).","entity_name":"DAG1","entity_type":"gene"},{"created":"2020-08-26T16:42:01.112120+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CSNK2A1 as ready","entity_name":"CSNK2A1","entity_type":"gene"},{"created":"2020-08-26T16:42:01.101796+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).","entity_name":"CSNK2A1","entity_type":"gene"},{"created":"2020-08-26T16:41:57.489550+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CSNK2A1 as Amber List (moderate evidence)","entity_name":"CSNK2A1","entity_type":"gene"},{"created":"2020-08-26T16:41:57.481699+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: csnk2a1 has been classified as Amber List (Moderate Evidence).","entity_name":"CSNK2A1","entity_type":"gene"},{"created":"2020-08-26T15:15:19.737706+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NPRL3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27173016, 26285051; Phenotypes: Epilepsy, familial focal, with variable foci 3 (MIM#617118); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"NPRL3","entity_type":"gene"},{"created":"2020-08-26T14:49:25.668894+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SHH: Rating: RED; Mode of pathogenicity: None; Publications: 19533790; Phenotypes: Schizencephaly (MIM#269160); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown; Current diagnostic: yes","entity_name":"SHH","entity_type":"gene"},{"created":"2020-08-26T14:34:52.972564+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Ain Roesley","item_type":"entity","text":"Deleted their review","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T14:34:36.713212+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30093711, 27173016; Phenotypes: Epilepsy, familial focal, with variable foci 2 (MIM#617116); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T14:20:36.392119+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SIX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 20157829; Phenotypes: Schizencephaly (MIM#269160); Mode of inheritance: None; Current diagnostic: yes","entity_name":"SIX3","entity_type":"gene"},{"created":"2020-08-26T14:12:22.180121+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.798","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: NPRL2: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 26505888, 27173016, 28199897, 31594065; Phenotypes: focal seizures, frontal lobe epilepsy, nocturnal frontal lobe epilepsy, temporal lobe epilepsy, focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T14:05:24.035775+10:00","panel_name":"Tuberous Sclerosis_Cortical Dysplasia_Hemimegalencephaly","panel_id":20,"panel_version":"0.10","user_name":"Dean Phelan","item_type":"entity","text":"reviewed gene: NPRL2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 29281825, 27173016, 31625153; Phenotypes: Focal epilepsy, Focal cortical dysplasia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"NPRL2","entity_type":"gene"},{"created":"2020-08-26T13:58:39.673983+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SNAP29 was added\ngene: SNAP29 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: SNAP29 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SNAP29 were set to 29051910; 21073448; 30793783\nPhenotypes for gene: SNAP29 were set to Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528)\nReview for gene: SNAP29 was set to GREEN\ngene: SNAP29 was marked as current diagnostic\nAdded comment: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)). \nSources: Literature","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T13:55:42.094564+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (4 patients from 2 families with both pachygyria and polymicrogyria, and 5 patients from 3 families with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (at least 5 patients from 3 families with both pachygyria and polymicrogyria, and at least 5 patients from 3 families with polymicrogyria alone (PMID: 29051910, 30793783)).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T13:41:11.529308+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from 5 families with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from unrelated families with pathogenic variants in this gene (4 patients from 2 families with both pachygyria and polymicrogyria, and 5 patients from 3 families with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T13:36:45.818671+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple unrelated patients with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients reviewed in PMID: 29051910).; to: Associated with CEDNIK syndrome. Both pachygyria and polymicrogyria, and additionally dysgenesis of the corpus callosum, are reported in multiple patients from 5 families with pathogenic variants in this gene (4 patients with pachygyria and 9 patients with polymicrogyria, in 12 patients from 5 families reviewed in PMID: 29051910).","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T13:34:44.081497+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Paul De Fazio","item_type":"entity","text":"reviewed gene: SNAP29: Rating: GREEN; Mode of pathogenicity: None; Publications: 29051910, 21073448, 30793783; Phenotypes: Cerebral dysgenesis, neuropathy, ichthyosis, and palmoplantar keratoderma syndrome (MIM#609528); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"SNAP29","entity_type":"gene"},{"created":"2020-08-26T13:10:06.508407+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.97","user_name":"Paul De Fazio","item_type":"entity","text":"gene: SRD5A3 was added\ngene: SRD5A3 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: SRD5A3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SRD5A3 were set to 18271001; 20637498; 31638560; 27480077\nPhenotypes for gene: SRD5A3 were set to Congenital disorder of glycosylation, type Iq (MIM#612379)\nReview for gene: SRD5A3 was set to RED\ngene: SRD5A3 was marked as current diagnostic\nAdded comment: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported in 2 individuals from the same family in PMID: 18271001, but given that it is only this one family I have rated it red. \nSources: Literature","entity_name":"SRD5A3","entity_type":"gene"},{"created":"2020-08-26T13:08:41.571791+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.60","user_name":"Paul De Fazio","item_type":"entity","text":"changed review comment from: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.; to: Associated with a CDG. Brain abnormalities reported include vermis hypoplasia, hypoplastic corpus callosum, cerebral atrophy. Polymicrogyria has been reported (2 individuals from the same family in PMID: 18271001), but lissencephaly or band heterotopia are not reported.\r\n\r\nNot sure this gene should be on this panel. Have added to polymicrogyria panel instead.","entity_name":"SRD5A3","entity_type":"gene"}]}