{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1662","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1660","results":[{"created":"2020-08-23T16:14:20.660062+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DDC were set to ","entity_name":"DDC","entity_type":"gene"},{"created":"2020-08-23T16:13:52.484112+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DDC was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDC","entity_type":"gene"},{"created":"2020-08-23T16:13:25.258699+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DDC: Rating: GREEN; Mode of pathogenicity: None; Publications: 20505134; Phenotypes: Aromatic L-amino acid decarboxylase deficiency, MIM# 608643; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DDC","entity_type":"gene"},{"created":"2020-08-23T16:11:44.196668+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DBH as ready","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:11:44.188689+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dbh has been classified as Green List (High Evidence).","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:11:37.106586+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3889","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DBH were changed from  to Dopamine beta-hydroxylase deficiency, MIM#223360","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:11:19.142758+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3888","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DBH were set to ","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:11:02.006902+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3887","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:10:46.726371+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:10:02.215540+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGEF9 as ready","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T16:10:02.195499+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgef9 has been classified as Green List (High Evidence).","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T16:09:55.942686+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DBH as ready","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:09:55.932616+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dbh has been classified as Green List (High Evidence).","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:09:53.683647+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DBH were changed from  to Dopamine beta-hydroxylase deficiency, MIM#223360","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:09:33.062383+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DBH were set to ","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:09:02.892722+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DBH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:08:38.952246+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DBH: Rating: GREEN; Mode of pathogenicity: None; Publications: 11857564; Phenotypes: Dopamine beta-hydroxylase deficiency, MIM#223360; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DBH","entity_type":"gene"},{"created":"2020-08-23T16:01:17.792735+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Victorian Clinical Genetics Services; Rare Disease","entity_name":null,"entity_type":null},{"created":"2020-08-23T15:56:06.757028+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.784","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGEF9 were changed from  to Epileptic encephalopathy, early infantile, 8, MIM# 300607","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:55:36.006112+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.783","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGEF9 were set to ","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:55:12.729976+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.782","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:54:44.258024+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:54:02.623835+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGEF9 as ready","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:54:02.613895+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgef9 has been classified as Green List (High Evidence).","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:53:56.827464+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3886","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGEF9 were changed from  to Epileptic encephalopathy, early infantile, 8, MIM# 300607","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:53:42.365612+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3885","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGEF9 were set to ","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:53:27.142140+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3884","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:53:08.782126+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3883","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARHGEF9: Rating: GREEN; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:52:04.917423+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARHGEF9 as ready","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:52:04.900967+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgef9 has been classified as Red List (Low Evidence).","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:52:02.534337+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ARHGEF9 were changed from  to Epileptic encephalopathy, early infantile, 8, MIM# 300607","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:51:37.970002+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ARHGEF9 were set to ","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:51:12.692480+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ARHGEF9 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:50:52.226848+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARHGEF9 as Red List (low evidence)","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:50:52.216438+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arhgef9 has been classified as Red List (Low Evidence).","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:50:26.114052+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ARHGEF9: Rating: RED; Mode of pathogenicity: None; Publications: 31942680, 30048823, 29130122, 28620718; Phenotypes: Epileptic encephalopathy, early infantile, 8, MIM# 300607; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ARHGEF9","entity_type":"gene"},{"created":"2020-08-23T15:42:18.806054+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALPL as ready","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-23T15:42:18.795661+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Red List (Low Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-23T15:39:19.165175+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALPL were changed from  to Hypophosphatasia","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-23T15:38:53.232732+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALPL was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-23T15:38:28.541295+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ALPL as Red List (low evidence)","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-23T15:38:28.533295+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: alpl has been classified as Red List (Low Evidence).","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-23T15:38:05.486605+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALPL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypophosphatasia; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"ALPL","entity_type":"gene"},{"created":"2020-08-23T15:02:44.292200+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3883","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STAT5B as ready","entity_name":"STAT5B","entity_type":"gene"},{"created":"2020-08-23T15:02:44.281478+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3883","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: stat5b has been classified as Green List (High Evidence).","entity_name":"STAT5B","entity_type":"gene"},{"created":"2020-08-23T15:02:30.452956+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3883","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: STAT5B were changed from  to Growth hormone insensitivity with immunodeficiency, MIM# 245590","entity_name":"STAT5B","entity_type":"gene"},{"created":"2020-08-23T15:02:08.173165+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3882","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: STAT5B were set to ","entity_name":"STAT5B","entity_type":"gene"},{"created":"2020-08-23T15:01:49.261575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3881","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of pathogenicity for gene: STAT5B was changed from  to Other","entity_name":"STAT5B","entity_type":"gene"},{"created":"2020-08-23T15:01:31.796035+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3880","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: STAT5B was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STAT5B","entity_type":"gene"},{"created":"2020-08-23T15:01:09.480998+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: STAT5B: Rating: GREEN; Mode of pathogenicity: Other; Publications: 29844444; Phenotypes: Growth hormone insensitivity with immunodeficiency, MIM# 245590; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"STAT5B","entity_type":"gene"},{"created":"2020-08-23T13:32:10.251152+10:00","panel_name":"Pharmacogenomics_Paediatric","panel_id":3271,"panel_version":"0.49","user_name":"David Metz","item_type":"entity","text":"commented on gene: TPMT: In newborn infants, peripheral blood TPMT activity is 50% greater than in race-matched adults and shows a distribution of activity consistent with the polymorphism characterized in adults.","entity_name":"TPMT","entity_type":"gene"},{"created":"2020-08-23T13:03:16.601458+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH7A1 as ready","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-08-23T13:03:16.593319+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh7a1 has been classified as Green List (High Evidence).","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-08-23T13:03:13.921497+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH7A1 were changed from  to Epilepsy, pyridoxine-dependent, MIM# 266100","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-08-23T13:02:42.846913+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH7A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-08-23T13:02:19.273412+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH7A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epilepsy, pyridoxine-dependent, MIM# 266100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH7A1","entity_type":"gene"},{"created":"2020-08-23T12:52:22.502384+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH5A1 as ready","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:52:22.492854+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh5a1 has been classified as Green List (High Evidence).","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:52:08.960666+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3879","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH5A1 were changed from  to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:51:52.756832+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3878","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH5A1 were set to ","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:51:32.785687+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3877","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:51:11.091795+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3876","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:50:10.562496+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH5A1 as ready","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:50:10.551868+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh5a1 has been classified as Green List (High Evidence).","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:50:07.260970+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.781","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH5A1 were changed from  to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:49:40.231497+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.780","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH5A1 were set to ","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:49:20.868258+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.779","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:47:35.748060+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.778","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:46:53.563974+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH5A1 as ready","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:46:53.555772+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh5a1 has been classified as Green List (High Evidence).","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:46:21.687179+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH5A1 were changed from  to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:46:00.737682+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH5A1 were set to ","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:45:37.659781+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ALDH5A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:45:10.239280+10:00","panel_name":"Neurotransmitter Defects","panel_id":145,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ALDH5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 9683595, 14635103, 32402538; Phenotypes: Succinic semialdehyde dehydrogenase deficiency, MIM# 271980; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH5A1","entity_type":"gene"},{"created":"2020-08-23T12:42:42.904732+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3876","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABAT as ready","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:42:42.895017+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3876","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Green List (High Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:42:36.422615+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3876","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABAT were changed from  to GABA-transaminase deficiency, MIM# 613163; mtDNA depletion syndrome (MDS)","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:42:19.934318+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3875","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABAT were set to ","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:41:56.606458+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3874","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:41:50.238286+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3874","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ABAT: Added comment: Bi-allelic variants in ABAT are associated with a neurotransmitter disorder. However, there are also reports of families with encephalomyopathic MDS caused by bi-allelic variants in ABAT resulting in elevated GABA in subjects' brains as well as decreased mtDNA levels in subjects' fibroblasts. Nucleoside rescue and co-IP experiments demonstrate that ABAT functions in the mitochondrial nucleoside salvage pathway to facilitate conversion of dNDPs to dNTPs. Unclear whether this a distinct disorder or part of a continuum caused by the enzyme being part of two pathways.; Changed publications: 25738457, 27903293, 28411234, 27596361, 20052547, 10407778, 6148708; Changed phenotypes: GABA-transaminase deficiency, MIM# 613163, mtDNA depletion syndrome (MDS)","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:40:36.202247+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3874","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:40:04.015798+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABAT as ready","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:40:03.997933+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Red List (Low Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:40:01.786516+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABAT were changed from  to GABA-transaminase deficiency, MIM# 613163","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:39:39.699561+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:39:10.603196+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABAT as Red List (low evidence)","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:39:10.593357+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Red List (Low Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:38:44.996955+10:00","panel_name":"Congenital Diarrhoea","panel_id":89,"panel_version":"0.6","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ABAT: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: GABA-transaminase deficiency, MIM# 613163; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:33:31.664726+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABAT as ready","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:33:31.653456+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Red List (Low Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:33:28.271336+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABAT were changed from  to GABA-transaminase deficiency, MIM#613163","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:33:06.171441+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ABAT were set to ","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:32:39.780445+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ABAT was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:32:18.974729+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ABAT as Red List (low evidence)","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:32:18.964947+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Red List (Low Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:31:51.561600+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype; to: At least 5 patients from unrelated families reported in the literature, severe ID is part of the phenotype. However, predominant MRI finding is that of abnormal myelination. In a series of 10 individuals in PMID 28411234, none had CC abnormalities. CC abnormalities appear to have only been reported in a single individual in PMID 10407778.","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:30:05.454937+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ABAT: Changed rating: RED; Changed publications: 10407778, 20052547, 27596361, 28411234","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:13:33.047115+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ABAT as ready","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:13:33.035034+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: abat has been classified as Green List (High Evidence).","entity_name":"ABAT","entity_type":"gene"},{"created":"2020-08-23T12:12:28.488448+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.463","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ABAT were changed from  to mtDNA depletion syndrome (MDS)","entity_name":"ABAT","entity_type":"gene"}]}