{"count":221272,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1630","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1628","results":[{"created":"2020-08-29T14:41:06.695400+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2894","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:40:20.892371+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS as ready","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:40:20.881938+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars has been classified as Green List (High Evidence).","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:40:17.637260+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.171","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS were set to ","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:40:05.918702+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.170","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:39:22.236748+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.825","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AARS as ready","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:39:22.227324+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.825","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aars has been classified as Green List (High Evidence).","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:38:54.698197+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.825","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AARS were changed from  to Epileptic encephalopathy, early infantile, 29, MIM# 616339","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:37:55.323336+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.824","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AARS were set to ","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:37:41.165680+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.823","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:37:23.012986+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.823","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AARS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:36:53.183172+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AARS: Rating: GREEN; Mode of pathogenicity: None; Publications: 28493438, 25817015; Phenotypes: Epileptic encephalopathy, early infantile, 29, MIM# 616339; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AARS","entity_type":"gene"},{"created":"2020-08-29T14:31:17.512220+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3996","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AAGAB as ready","entity_name":"AAGAB","entity_type":"gene"},{"created":"2020-08-29T14:31:17.503974+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3996","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aagab has been classified as Green List (High Evidence).","entity_name":"AAGAB","entity_type":"gene"},{"created":"2020-08-29T14:31:06.378474+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3996","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: AAGAB were changed from  to Keratoderma, palmoplantar, punctate type IA (MIM#148600)","entity_name":"AAGAB","entity_type":"gene"},{"created":"2020-08-29T14:30:50.134700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3995","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AAGAB were set to ","entity_name":"AAGAB","entity_type":"gene"},{"created":"2020-08-29T14:30:33.769882+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3994","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: AAGAB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AAGAB","entity_type":"gene"},{"created":"2020-08-29T14:30:17.388064+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3993","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AAGAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 30451279, 26608363; Phenotypes: Keratoderma, palmoplantar, punctate type IA (MIM#148600); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"AAGAB","entity_type":"gene"},{"created":"2020-08-29T14:28:47.897423+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3993","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: A4GALT as ready","entity_name":"A4GALT","entity_type":"gene"},{"created":"2020-08-29T14:28:47.888986+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3993","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a4galt has been classified as Red List (Low Evidence).","entity_name":"A4GALT","entity_type":"gene"},{"created":"2020-08-29T14:28:41.249014+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3993","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: A4GALT were changed from  to [Blood group, P1Pk system, p phenotype], MIM# 111400","entity_name":"A4GALT","entity_type":"gene"},{"created":"2020-08-29T14:28:28.505345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3992","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: A4GALT as Red List (low evidence)","entity_name":"A4GALT","entity_type":"gene"},{"created":"2020-08-29T14:28:28.496422+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3992","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: a4galt has been classified as Red List (Low Evidence).","entity_name":"A4GALT","entity_type":"gene"},{"created":"2020-08-29T14:28:13.635776+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3991","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: A4GALT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: [Blood group, P1Pk system, p phenotype], MIM# 111400; Mode of inheritance: None","entity_name":"A4GALT","entity_type":"gene"},{"created":"2020-08-29T14:23:05.119554+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RELN as ready","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:23:05.103690+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: reln has been classified as Green List (High Evidence).","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:23:02.453211+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.822","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RELN were changed from  to {Epilepsy, familial temporal lobe, 7}, MIM# 616436; MONDO:0014639","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:22:40.110973+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.821","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELN were set to ","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:22:14.625130+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.820","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RELN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:21:50.410076+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 28142128; Phenotypes: {Epilepsy, familial temporal lobe, 7}, MIM# 616436, MONDO:0014639; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:17:12.128520+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RELN as ready","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:17:12.118528+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.107","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: reln has been classified as Green List (High Evidence).","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:17:10.108318+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.107","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":"2020-08-29T14:16:44.613398+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.106","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RELN were set to ","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:16:17.961661+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.105","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":"2020-08-29T14:15:52.981960+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RELN: Rating: GREEN; Mode of pathogenicity: None; Publications: 10973257, 29671837, 31805691; Phenotypes: Lissencephaly 2 (Norman-Roberts type), MIM# 257320; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RELN","entity_type":"gene"},{"created":"2020-08-29T14:05:00.272764+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB1 as ready","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T14:05:00.263580+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb1 has been classified as Green List (High Evidence).","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T14:04:15.747736+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PAFAH1B1.","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:50:36.793386+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAFAH1B1 as ready","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:50:36.784845+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:50:34.513082+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAFAH1B1 were changed from  to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:50:08.229223+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAFAH1B1 were set to ","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:49:43.486890+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:49:15.717451+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:47:47.359718+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAFAH1B1 as ready","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:47:47.349892+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:47:44.749560+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAFAH1B1 were changed from  to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:47:20.329281+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAFAH1B1 were set to ","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:46:54.628414+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:46:33.275452+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PAFAH1B1.","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:46:24.051168+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:45:11.858054+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2894","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAFAH1B1 as ready","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:45:11.847456+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2894","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:45:08.023524+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2894","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAFAH1B1 were changed from  to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:44:39.216568+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2893","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAFAH1B1 were set to ","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:44:06.207107+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2892","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:43:37.197769+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2891","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PAFAH1B1.","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:43:26.759109+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2891","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:42:52.315496+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAFAH1B1 as ready","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:42:52.307082+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:42:48.514385+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PAFAH1B1.","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:42:20.964654+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.819","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAFAH1B1 were changed from  to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:41:59.921923+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.818","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAFAH1B1 were set to ","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:41:42.994761+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.817","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:41:13.740566+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.816","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:41:00.354621+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3991","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PAFAH1B1.","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:40:32.675129+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3991","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAFAH1B1 as ready","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:40:32.664553+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3991","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:40:26.289162+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3991","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAFAH1B1 were changed from  to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:40:02.755588+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3990","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAFAH1B1 were set to ","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:39:35.680003+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3989","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:39:19.029345+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3988","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:38:05.023318+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Lissencephaly due to PAFAH1B1 (prev known as LIS1) mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia.; to: Lissencephaly due to PAFAH1B1 (prev known as LIS1) mutation is a cerebral malformation with epilepsy characterised predominantly by posterior isolated lissencephaly with developmental delay, intellectual disability and epilepsy that usually evolves from West syndrome to Lennox-Gastaut syndrome. Additional features include muscular hypotonia, acquired microcephaly, failure to thrive and poor control of airways leading to aspiration pneumonia. Note deletions are common.","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:37:45.530623+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAFAH1B1 as ready","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:37:45.521852+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:37:40.113892+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: PAFAH1B1.","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:37:32.795652+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.104","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PAFAH1B1 were changed from  to Lissencephaly 1, MIM# 607432; Subcortical laminar heterotopia, MIM# 607432; MONDO:0011830","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:37:05.768862+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.103","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAFAH1B1 were set to ","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:36:40.764519+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.102","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PAFAH1B1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:35:59.139207+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PAFAH1B1: Rating: GREEN; Mode of pathogenicity: None; Publications: 11754098, 18285425; Phenotypes: Lissencephaly 1, MIM# 607432, Subcortical laminar heterotopia, MIM# 607432, MONDO:0011830; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-08-29T13:26:58.624719+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARGE1 as ready","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-08-29T13:26:58.615548+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: large1 has been classified as Green List (High Evidence).","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-08-29T13:26:56.281895+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.101","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARGE1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154; Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-08-29T13:26:30.886389+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.100","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LARGE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-08-29T13:25:55.974467+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LARGE1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, MIM# 613154, Muscular dystrophy-dystroglycanopathy (congenital with mental retardation), type B, 6, MIM# 608840; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LARGE1","entity_type":"gene"},{"created":"2020-08-29T13:20:45.175160+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3988","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LAMB1 as ready","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:20:45.166478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3988","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lamb1 has been classified as Green List (High Evidence).","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:20:38.771623+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3988","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB1 were changed from  to Lissencephaly 5, MIM# 615191; Cystic leukoencephalopathy","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:20:21.816877+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3987","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMB1 were set to ","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:20:02.640023+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3986","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:19:45.195169+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3985","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467, 25925986, 32548278; Phenotypes: Lissencephaly 5, MIM# 615191, Cystic leukoencephalopathy; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:18:05.386376+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.99","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LAMB1 were changed from  to Lissencephaly 5, MIM# 615191","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:17:44.907839+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.98","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LAMB1 were set to ","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:16:28.119249+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.97","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LAMB1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:16:00.920952+10:00","panel_name":"Lissencephaly and Band Heterotopia","panel_id":15,"panel_version":"0.96","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LAMB1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23472759, 25925986, 29888467; Phenotypes: Lissencephaly 5, MIM# 615191; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LAMB1","entity_type":"gene"},{"created":"2020-08-29T13:11:54.256862+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TMEM5 as ready","entity_name":"TMEM5","entity_type":"gene"},{"created":"2020-08-29T13:11:54.248539+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tmem5 has been classified as Green List (High Evidence).","entity_name":"TMEM5","entity_type":"gene"},{"created":"2020-08-29T13:11:51.762315+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.73","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TMEM5 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 10, MIM# 615041","entity_name":"TMEM5","entity_type":"gene"},{"created":"2020-08-29T13:11:28.106905+10:00","panel_name":"Muscular dystrophy_Paediatric","panel_id":141,"panel_version":"0.72","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TMEM5 were set to ","entity_name":"TMEM5","entity_type":"gene"}]}