{"count":220377,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2055","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=2053","results":[{"created":"2019-12-10T05:48:00.108212+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1068","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm8a has been classified as Red List (Low Evidence).","entity_name":"RBM8A","entity_type":"gene"},{"created":"2019-12-10T05:47:40.612479+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1067","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RBM8A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombocytopenia-absent radius syndrome, MIM#274000; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBM8A","entity_type":"gene"},{"created":"2019-12-09T23:00:55.911818+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1067","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TMEM231 as Amber List (moderate evidence)","entity_name":"TMEM231","entity_type":"gene"},{"created":"2019-12-09T23:00:55.903676+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1067","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tmem231 has been classified as Amber List (Moderate Evidence).","entity_name":"TMEM231","entity_type":"gene"},{"created":"2019-12-09T23:00:40.889596+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1066","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TMEM231.\nSource Expert list was added to TMEM231.\nMode of inheritance for gene TMEM231 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TMEM231 were changed from  to Joubert syndrome 20, OMIM #614970; Meckel syndrome 11, OMIM #615397\nPublications for gene TMEM231 were changed from PMID: 23012439 to PMID: 23012439","entity_name":"TMEM231","entity_type":"gene"},{"created":"2019-12-09T22:59:57.255246+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1065","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TMEM231: Rating: AMBER; Mode of pathogenicity: None; Publications: PubMed: 23012439; Phenotypes: Joubert syndrome 20, OMIM #614970, Meckel syndrome 11, OMIM #615397; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM231","entity_type":"gene"},{"created":"2019-12-09T22:55:54.985646+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1065","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TP63.\nSource Expert list was added to TP63.\nMode of inheritance for gene TP63 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: TP63 were changed from  to ADULT syndrome, OMIM #103285; Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292; Hay-Wells syndrome, OMIM #106260; Limb-mammary syndrome, OMIM #603543; Orofacial cleft 8, OMIM #618149; Rapp-Hodgkin syndrome, OMIM #129400; Split-hand/foot malformation 4, OMIM #605289","entity_name":"TP63","entity_type":"gene"},{"created":"2019-12-09T22:55:24.306587+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1064","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TP63 as Red List (low evidence)","entity_name":"TP63","entity_type":"gene"},{"created":"2019-12-09T22:55:24.298139+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1064","user_name":"Chirag Patel","item_type":"entity","text":"Gene: tp63 has been classified as Red List (Low Evidence).","entity_name":"TP63","entity_type":"gene"},{"created":"2019-12-09T22:55:11.472795+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1063","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ADULT syndrome, OMIM #103285, Ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome 3, OMIM #604292, Hay-Wells syndrome, OMIM #106260, Limb-mammary syndrome, OMIM #603543, Orofacial cleft 8, OMIM #618149, Rapp-Hodgkin syndrome, OMIM #129400, Split-hand/foot malformation 4, OMIM #605289; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TP63","entity_type":"gene"},{"created":"2019-12-09T22:51:54.131165+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1063","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TPP1.\nSource Expert list was added to TPP1.\nMode of inheritance for gene TPP1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TPP1 were changed from  to Ceroid lipofuscinosis, neuronal, 2, OMIM #204500; Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270","entity_name":"TPP1","entity_type":"gene"},{"created":"2019-12-09T22:51:31.216128+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1062","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TPP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Ceroid lipofuscinosis, neuronal, 2, OMIM #204500, Spinocerebellar ataxia, autosomal recessive 7, OMIM #609270; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TPP1","entity_type":"gene"},{"created":"2019-12-09T22:48:30.304882+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1062","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TRAF7 as Green List (high evidence)","entity_name":"TRAF7","entity_type":"gene"},{"created":"2019-12-09T22:48:30.297187+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1062","user_name":"Chirag Patel","item_type":"entity","text":"Gene: traf7 has been classified as Green List (High Evidence).","entity_name":"TRAF7","entity_type":"gene"},{"created":"2019-12-09T22:48:17.067062+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1061","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TRAF7: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 29961569; Phenotypes: Cardiac, facial, and digital anomalies with developmental delay, OMIM #618164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TRAF7","entity_type":"gene"},{"created":"2019-12-09T22:47:01.275119+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1061","user_name":"Chirag Patel","item_type":"entity","text":"gene: TRAF7 was added\ngene: TRAF7 was added to Intellectual disability, syndromic and non-syndromic_GHQ_VCGS. Sources: Expert list\nMode of inheritance for gene: TRAF7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TRAF7 were set to PMID: 29961569\nPhenotypes for gene: TRAF7 were set to Cardiac, facial, and digital anomalies with developmental delay; OMIM #618164","entity_name":"TRAF7","entity_type":"gene"},{"created":"2019-12-09T22:44:33.552190+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1060","user_name":"Chirag Patel","item_type":"entity","text":"Source Genetic Health Queensland was removed from TRAPPC11.\nSource Expert list was added to TRAPPC11.\nMode of inheritance for gene TRAPPC11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: TRAPPC11 were changed from  to Muscular dystrophy, limb-girdle, autosomal recessive 18; OMIM #615356\nPublications for gene TRAPPC11 were changed from PMID: 23830518; 27707803 to PMID: 23830518; 27707803","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2019-12-09T22:43:55.776243+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1059","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TRAPPC11: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 23830518, 27707803; Phenotypes: Muscular dystrophy, limb-girdle, autosomal recessive 18, OMIM #615356; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRAPPC11","entity_type":"gene"},{"created":"2019-12-09T22:37:15.826857+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1059","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: TRAPPC6A as Red List (low evidence)","entity_name":"TRAPPC6A","entity_type":"gene"},{"created":"2019-12-09T22:37:15.819002+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1059","user_name":"Chirag Patel","item_type":"entity","text":"Gene: trappc6a has been classified as Red List (Low Evidence).","entity_name":"TRAPPC6A","entity_type":"gene"},{"created":"2019-12-09T22:37:02.609207+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1058","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: TRAPPC6A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"TRAPPC6A","entity_type":"gene"},{"created":"2019-12-09T22:16:43.539784+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RBM28 as ready","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T22:16:43.530836+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm28 has been classified as Red List (Low Evidence).","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T22:16:38.075680+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1058","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RBM28 were changed from  to Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T22:16:24.284597+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1057","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RBM28 were set to ","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T22:16:13.049817+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1056","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RBM28 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T22:16:05.761375+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1055","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RBM28 as Red List (low evidence)","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T22:16:05.749419+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1055","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rbm28 has been classified as Red List (Low Evidence).","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T22:15:49.722965+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1054","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RBM28: Rating: RED; Mode of pathogenicity: None; Publications: 18439547; Phenotypes: Alopecia, neurologic defects, and endocrinopathy syndrome, MIM#612079; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RBM28","entity_type":"gene"},{"created":"2019-12-09T20:45:06.655362+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1054","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAPSN as ready","entity_name":"RAPSN","entity_type":"gene"},{"created":"2019-12-09T20:45:06.648012+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1054","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rapsn has been classified as Red List (Low Evidence).","entity_name":"RAPSN","entity_type":"gene"},{"created":"2019-12-09T20:45:02.453874+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1054","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAPSN were changed from  to Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326","entity_name":"RAPSN","entity_type":"gene"},{"created":"2019-12-09T20:44:49.870150+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1053","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAPSN was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAPSN","entity_type":"gene"},{"created":"2019-12-09T20:44:43.200108+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1052","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAPSN as Red List (low evidence)","entity_name":"RAPSN","entity_type":"gene"},{"created":"2019-12-09T20:44:43.193109+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1052","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rapsn has been classified as Red List (Low Evidence).","entity_name":"RAPSN","entity_type":"gene"},{"created":"2019-12-09T20:44:29.283014+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1051","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAPSN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myasthenic syndrome, congenital, 11, associated with acetylcholine receptor deficiency, MIM#616326; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAPSN","entity_type":"gene"},{"created":"2019-12-09T20:41:13.949763+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1051","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RANBP2 as ready","entity_name":"RANBP2","entity_type":"gene"},{"created":"2019-12-09T20:41:13.942543+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1051","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ranbp2 has been classified as Red List (Low Evidence).","entity_name":"RANBP2","entity_type":"gene"},{"created":"2019-12-09T20:41:06.899890+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1051","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RANBP2 were changed from  to Encephalopathy, acute, infection-induced, 3, susceptibility to, MIM# 608033","entity_name":"RANBP2","entity_type":"gene"},{"created":"2019-12-09T20:40:52.584797+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1050","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RANBP2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RANBP2","entity_type":"gene"},{"created":"2019-12-09T20:40:45.414359+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1049","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RANBP2 as Red List (low evidence)","entity_name":"RANBP2","entity_type":"gene"},{"created":"2019-12-09T20:40:45.406969+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1049","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ranbp2 has been classified as Red List (Low Evidence).","entity_name":"RANBP2","entity_type":"gene"},{"created":"2019-12-09T20:40:31.088622+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1048","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RANBP2: Rating: RED; Mode of pathogenicity: None; Publications: ; 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":"2019-12-09T20:38:59.315817+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1048","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAC3 as ready","entity_name":"RAC3","entity_type":"gene"},{"created":"2019-12-09T20:38:59.308216+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1048","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rac3 has been classified as Green List (High Evidence).","entity_name":"RAC3","entity_type":"gene"},{"created":"2019-12-09T20:38:47.312878+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1048","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAC3 were changed from  to Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577","entity_name":"RAC3","entity_type":"gene"},{"created":"2019-12-09T20:38:34.069261+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1047","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAC3 were set to ","entity_name":"RAC3","entity_type":"gene"},{"created":"2019-12-09T20:38:19.592558+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1046","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC3","entity_type":"gene"},{"created":"2019-12-09T20:38:02.500166+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1045","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAC3: Rating: ; Mode of pathogenicity: None; Publications: 30293988, 29276006; Phenotypes: Neurodevelopmental disorder with structural brain anomalies and dysmorphic facies, MIM#618577; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAC3","entity_type":"gene"},{"created":"2019-12-09T20:35:02.649730+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1045","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB40AL as ready","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:35:02.642664+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1045","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab40al has been classified as Red List (Low Evidence).","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:34:57.340041+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1045","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB40AL were changed from  to MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:34:43.187217+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1044","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB40AL were set to ","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:34:32.930874+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1043","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB40AL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:34:26.707931+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1042","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB40AL as Red List (low evidence)","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:34:26.700696+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1042","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab40al has been classified as Red List (Low Evidence).","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:34:13.228690+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1041","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB40AL: Rating: RED; Mode of pathogenicity: None; Publications: 25044830; Phenotypes: MENTAL RETARDATION, X-LINKED, SYNDROMIC, MARTIN-PROBST TYPE; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"RAB40AL","entity_type":"gene"},{"created":"2019-12-09T20:31:17.131727+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1041","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RAB27A as ready","entity_name":"RAB27A","entity_type":"gene"},{"created":"2019-12-09T20:31:17.116466+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1041","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab27a has been classified as Red List (Low Evidence).","entity_name":"RAB27A","entity_type":"gene"},{"created":"2019-12-09T20:31:09.770190+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1041","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB27A were changed from  to Griscelli syndrome, type 2, MIM#607624","entity_name":"RAB27A","entity_type":"gene"},{"created":"2019-12-09T20:30:58.624258+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1040","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RAB27A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB27A","entity_type":"gene"},{"created":"2019-12-09T20:30:52.134334+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1039","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB27A as Red List (low evidence)","entity_name":"RAB27A","entity_type":"gene"},{"created":"2019-12-09T20:30:52.125089+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1039","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab27a has been classified as Red List (Low Evidence).","entity_name":"RAB27A","entity_type":"gene"},{"created":"2019-12-09T20:30:39.657568+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1038","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB27A: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Griscelli syndrome, type 2, MIM#607624; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"RAB27A","entity_type":"gene"},{"created":"2019-12-09T12:53:15.473473+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1038","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PYGL as ready","entity_name":"PYGL","entity_type":"gene"},{"created":"2019-12-09T12:53:15.466412+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1038","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygl has been classified as Red List (Low Evidence).","entity_name":"PYGL","entity_type":"gene"},{"created":"2019-12-09T12:53:05.163871+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1038","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PYGL were changed from  to Glycogen storage disease VI, MIM#232700","entity_name":"PYGL","entity_type":"gene"},{"created":"2019-12-09T12:52:50.073896+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1037","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PYGL was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PYGL","entity_type":"gene"},{"created":"2019-12-09T12:52:43.517707+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1036","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PYGL as Red List (low evidence)","entity_name":"PYGL","entity_type":"gene"},{"created":"2019-12-09T12:52:43.510714+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1036","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pygl has been classified as Red List (Low Evidence).","entity_name":"PYGL","entity_type":"gene"},{"created":"2019-12-09T12:52:30.582274+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1035","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PYGL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease VI, MIM#232700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PYGL","entity_type":"gene"},{"created":"2019-12-09T12:50:00.576373+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1035","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PUM1 as ready","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:50:00.568664+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1035","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pum1 has been classified as Amber List (Moderate Evidence).","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:49:51.603146+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1035","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PUM1 were changed from  to Spinocerebellar ataxia 47, MIM#617931","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:49:39.878701+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1034","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PUM1 were set to ","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:49:27.289610+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1033","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PUM1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:49:15.509087+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1032","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PUM1 as Amber List (moderate evidence)","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:49:15.500153+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1032","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pum1 has been classified as Amber List (Moderate Evidence).","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:49:03.082663+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1031","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PUM1: Rating: AMBER; Mode of pathogenicity: None; Publications: 29474920, 25768905; Phenotypes: Spinocerebellar ataxia 47, MIM#617931; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PUM1","entity_type":"gene"},{"created":"2019-12-09T12:32:05.220617+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1031","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PSAP as ready","entity_name":"PSAP","entity_type":"gene"},{"created":"2019-12-09T12:32:05.212512+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1031","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: psap has been classified as Green List (High Evidence).","entity_name":"PSAP","entity_type":"gene"},{"created":"2019-12-09T12:31:57.244860+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1031","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PSAP were changed from  to Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900","entity_name":"PSAP","entity_type":"gene"},{"created":"2019-12-09T12:31:46.966822+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1030","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PSAP was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSAP","entity_type":"gene"},{"created":"2019-12-09T12:29:40.942964+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1029","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PSAP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Metachromatic leukodystrophy due to SAP-b deficiency, MIM#249900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSAP","entity_type":"gene"},{"created":"2019-12-09T12:27:15.900443+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1029","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRX as ready","entity_name":"PRX","entity_type":"gene"},{"created":"2019-12-09T12:27:15.892720+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1029","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prx has been classified as Red List (Low Evidence).","entity_name":"PRX","entity_type":"gene"},{"created":"2019-12-09T12:27:11.745530+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1029","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRX were changed from  to Charcot-Marie-Tooth disease, type 4F, MIM#614895","entity_name":"PRX","entity_type":"gene"},{"created":"2019-12-09T12:26:59.926728+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1028","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRX was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRX","entity_type":"gene"},{"created":"2019-12-09T12:26:52.598247+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1027","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRX as Red List (low evidence)","entity_name":"PRX","entity_type":"gene"},{"created":"2019-12-09T12:26:52.590473+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1027","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prx has been classified as Red List (Low Evidence).","entity_name":"PRX","entity_type":"gene"},{"created":"2019-12-09T12:26:40.701545+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM#614895; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRX","entity_type":"gene"},{"created":"2019-12-09T12:23:32.508810+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRRX1 as ready","entity_name":"PRRX1","entity_type":"gene"},{"created":"2019-12-09T12:23:32.501615+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrx1 has been classified as Red List (Low Evidence).","entity_name":"PRRX1","entity_type":"gene"},{"created":"2019-12-09T12:22:57.330740+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1026","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRRX1 were changed from  to Agnathia-otocephaly complex, MIM#202650","entity_name":"PRRX1","entity_type":"gene"},{"created":"2019-12-09T12:22:46.493830+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1025","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PRRX1 as Red List (low evidence)","entity_name":"PRRX1","entity_type":"gene"},{"created":"2019-12-09T12:22:46.486311+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1025","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prrx1 has been classified as Red List (Low Evidence).","entity_name":"PRRX1","entity_type":"gene"},{"created":"2019-12-09T12:22:33.621684+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1024","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRRX1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Agnathia-otocephaly complex, MIM#202650; Mode of inheritance: None","entity_name":"PRRX1","entity_type":"gene"},{"created":"2019-12-09T12:17:52.536649+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1024","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRR12 as ready","entity_name":"PRR12","entity_type":"gene"},{"created":"2019-12-09T12:17:52.529223+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1024","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prr12 has been classified as Green List (High Evidence).","entity_name":"PRR12","entity_type":"gene"},{"created":"2019-12-09T12:17:46.485138+11:00","panel_name":"Intellectual disability, syndromic and non-syndromic_GHQ_VCGS","panel_id":250,"panel_version":"0.1024","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRR12 were changed from  to intellectual disability; iris abnormalities","entity_name":"PRR12","entity_type":"gene"}]}