{"count":220263,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1419","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1417","results":[{"created":"2021-02-06T17:39:44.999399+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A3 were changed from Cleft palate to Stickler syndrome; Cleft palate","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-02-06T17:39:34.392243+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL9A3 were set to ","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-02-06T17:39:26.642970+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL9A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-02-06T17:39:20.503156+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL9A3 as Amber List (moderate evidence)","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-02-06T17:39:20.495108+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col9a3 has been classified as Amber List (Moderate Evidence).","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-02-06T17:39:11.964292+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL9A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 24273071, 30450842, 31090205, 20301479; Phenotypes: Stickler syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COL9A3","entity_type":"gene"},{"created":"2021-02-06T17:08:43.222922+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"panel","text":"Panel types changed to Rare Disease","entity_name":null,"entity_type":null},{"created":"2021-02-06T17:08:03.410241+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL9A2 as ready","entity_name":"COL9A2","entity_type":"gene"},{"created":"2021-02-06T17:08:03.400091+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col9a2 has been classified as Amber List (Moderate Evidence).","entity_name":"COL9A2","entity_type":"gene"},{"created":"2021-02-06T17:08:00.533251+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL9A2 were changed from Stickler syndrome; Orofacial Clefting with skeletal features; ?Stickler syndrome type V, 614284; Cleft palate to Stickler syndrome, type V, MIM# 614284","entity_name":"COL9A2","entity_type":"gene"},{"created":"2021-02-06T17:07:46.395814+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL9A2 were set to 21671392","entity_name":"COL9A2","entity_type":"gene"},{"created":"2021-02-06T17:07:29.693430+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL9A2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21671392, 31090205, 33356723; Phenotypes: Stickler syndrome, type V, MIM# 614284; Mode of inheritance: None","entity_name":"COL9A2","entity_type":"gene"},{"created":"2021-02-06T16:57:11.259598+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CHD1 as ready","entity_name":"CHD1","entity_type":"gene"},{"created":"2021-02-06T16:57:11.251295+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: chd1 has been classified as Red List (Low Evidence).","entity_name":"CHD1","entity_type":"gene"},{"created":"2021-02-06T16:56:58.849016+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: CHD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"CHD1","entity_type":"gene"},{"created":"2021-02-06T15:28:16.494183+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BMP4 as ready","entity_name":"BMP4","entity_type":"gene"},{"created":"2021-02-06T15:28:16.486733+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp4 has been classified as Green List (High Evidence).","entity_name":"BMP4","entity_type":"gene"},{"created":"2021-02-06T15:28:11.094516+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: BMP4 were changed from Cleft lip with or without cleft palate, non syndromic, 11; MCOPS6, OROFACIAL CLEFT 11; OFC11; Orofacial Cleft; Cleft Lip with or without Cleft Palate; Cleft lip; MICROPHTHALMIA, SYNDROMIC 6; Orofacial cleft 11, 600625 to Orofacial cleft 11 600625; Microphthalmia, syndromic 6, MIM# 607932","entity_name":"BMP4","entity_type":"gene"},{"created":"2021-02-06T15:28:00.441082+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: BMP4 were set to ","entity_name":"BMP4","entity_type":"gene"},{"created":"2021-02-06T15:27:51.867905+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BMP4 as Green List (high evidence)","entity_name":"BMP4","entity_type":"gene"},{"created":"2021-02-06T15:27:51.859708+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.59","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bmp4 has been classified as Green List (High Evidence).","entity_name":"BMP4","entity_type":"gene"},{"created":"2021-02-06T15:27:24.906822+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: BMP4: Rating: GREEN; Mode of pathogenicity: None; Publications: 31053785, 19249007, 31909686; Phenotypes: Orofacial cleft 11 600625, Microphthalmia, syndromic 6, MIM# 607932; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"BMP4","entity_type":"gene"},{"created":"2021-02-06T15:14:40.579960+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANKRD17 as ready","entity_name":"ANKRD17","entity_type":"gene"},{"created":"2021-02-06T15:14:40.571817+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd17 has been classified as Amber List (Moderate Evidence).","entity_name":"ANKRD17","entity_type":"gene"},{"created":"2021-02-06T15:14:37.087413+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ANKRD17 as Amber List (moderate evidence)","entity_name":"ANKRD17","entity_type":"gene"},{"created":"2021-02-06T15:14:37.077249+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.58","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ankrd17 has been classified as Amber List (Moderate Evidence).","entity_name":"ANKRD17","entity_type":"gene"},{"created":"2021-02-06T15:14:29.255674+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.57","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKRD17 was added\ngene: ANKRD17 was added to Clefting_GEL. Sources: Expert Review\nMode of inheritance for gene: ANKRD17 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: ANKRD17 were set to Intellectual disability; dysmorphic features\nReview for gene: ANKRD17 was set to AMBER\nAdded comment: Emerging evidence. \nSources: Expert Review","entity_name":"ANKRD17","entity_type":"gene"},{"created":"2021-02-06T15:13:09.364125+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AMOTL1 as ready","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2021-02-06T15:13:09.356160+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: amotl1 has been classified as Red List (Low Evidence).","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2021-02-06T15:13:01.549041+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.56","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMOTL1 was added\ngene: AMOTL1 was added to Clefting_GEL. Sources: Literature\nMode of inheritance for gene: AMOTL1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: AMOTL1 were set to 33026150\nPhenotypes for gene: AMOTL1 were set to Cleft lip and palate; imperforate anus; dysmorphism\nReview for gene: AMOTL1 was set to RED\nAdded comment: Two unrelated families reported. In one, the variant was identified in parent and child who had orofacial cleft and cardiac abnormalities. Second report in PMID 33026150, de novo missense variant and cleft lip/palate, imperforate anus and dysmorphism. Mouse model does not recapitulate phenotype. \nSources: Literature","entity_name":"AMOTL1","entity_type":"gene"},{"created":"2021-02-06T15:11:24.019907+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACBD5 as ready","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:11:24.009198+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acbd5 has been classified as Green List (High Evidence).","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:11:15.595083+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACBD5 were changed from  to Retinal dystrophy with leukodystrophy, MIM# 618863","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:10:59.163971+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6242","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACBD5 were set to ","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:10:34.835421+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6241","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:10:12.510512+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6240","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACBD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:09:02.277672+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACBD5 as ready","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:09:02.266280+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acbd5 has been classified as Red List (Low Evidence).","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:08:55.796694+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ACBD5 were changed from Cleft palate to Retinal dystrophy with leukodystrophy, MIM# 618863; Cleft palate","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:08:42.816118+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.54","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ACBD5 were set to ","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:08:35.022433+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.53","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ACBD5 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:08:24.952789+11:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.52","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ACBD5: Rating: RED; Mode of pathogenicity: None; Publications: 27799409, 23105016, 33427402; Phenotypes: Retinal dystrophy with leukodystrophy, MIM# 618863; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ACBD5","entity_type":"gene"},{"created":"2021-02-06T15:00:48.697652+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAR1B as ready","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T15:00:48.689012+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sar1b has been classified as Green List (High Evidence).","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T15:00:41.461075+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6240","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SAR1B were changed from  to Chylomicron retention disease, MIM# 246700","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T15:00:22.243678+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6239","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SAR1B were set to ","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T15:00:01.207290+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6238","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SAR1B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T14:59:39.504600+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6237","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SAR1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 12692552; Phenotypes: Chylomicron retention disease, MIM# 246700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T14:58:42.778903+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SAR1B as ready","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T14:58:42.768618+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sar1b has been classified as Green List (High Evidence).","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T14:58:39.357996+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SAR1B as Green List (high evidence)","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T14:58:39.349815+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.242","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sar1b has been classified as Green List (High Evidence).","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T14:58:30.301432+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.241","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SAR1B was added\ngene: SAR1B was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: SAR1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SAR1B were set to 12692552\nPhenotypes for gene: SAR1B were set to Chylomicron retention disease, MIM#\t246700\nReview for gene: SAR1B was set to GREEN\nAdded comment: Chylomicron retention disease is an autosomal recessive disorder of severe fat malabsorption associated with failure to thrive in infancy. Well established gene-disease association. \nSources: Expert Review","entity_name":"SAR1B","entity_type":"gene"},{"created":"2021-02-06T14:56:18.505202+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SC5D as ready","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:56:18.496942+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sc5d has been classified as Green List (High Evidence).","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:56:16.013574+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.265","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SC5D were changed from  to Lathosterolosis, MIM# 607330","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:55:48.665211+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.264","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SC5D were set to ","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:55:19.426264+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.263","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:54:48.870996+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.262","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM# 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:54:06.020658+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6237","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SC5D as ready","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:54:06.011618+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6237","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sc5d has been classified as Green List (High Evidence).","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:53:58.453202+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6237","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SC5D were changed from  to Lathosterolosis, MIM# 607330","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:53:35.377892+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6236","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SC5D were set to ","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:53:15.838794+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6235","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SC5D was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:52:58.711323+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6234","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SC5D: Rating: GREEN; Mode of pathogenicity: None; Publications: 17853487, 12189593, 12812989, 24142275; Phenotypes: Lathosterolosis, MIM# 607330; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:51:58.324669+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SC5D as ready","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:51:58.317166+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sc5d has been classified as Green List (High Evidence).","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:51:51.531176+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SC5D as Green List (high evidence)","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:51:51.521034+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.240","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sc5d has been classified as Green List (High Evidence).","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:51:40.335733+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.239","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SC5D was added\ngene: SC5D was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: SC5D was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SC5D were set to 17853487; 12189593; 12812989; 24142275\nPhenotypes for gene: SC5D were set to Lathosterolosis, MIM#\t607330\nReview for gene: SC5D was set to GREEN\nAdded comment: Lathosterolosis (LATHOS) is an autosomal recessive disorder characterized by a recognizable pattern of multiple congenital anomalies involving axial and appendicular skeleton, liver, central nervous and urogenital systems, and lysosomal storage. It is caused by a defect of cholesterol biosynthesis due to sterol C5-desaturase deficiency.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert Review","entity_name":"SC5D","entity_type":"gene"},{"created":"2021-02-06T14:46:49.206897+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SI as ready","entity_name":"SI","entity_type":"gene"},{"created":"2021-02-06T14:46:49.199363+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: si has been classified as Green List (High Evidence).","entity_name":"SI","entity_type":"gene"},{"created":"2021-02-06T14:46:45.522445+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SI as Green List (high evidence)","entity_name":"SI","entity_type":"gene"},{"created":"2021-02-06T14:46:45.506728+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.238","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: si has been classified as Green List (High Evidence).","entity_name":"SI","entity_type":"gene"},{"created":"2021-02-06T14:46:36.390603+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.237","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SI was added\ngene: SI was added to Miscellaneous Metabolic Disorders. Sources: Expert Review\nMode of inheritance for gene: SI was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: SI were set to Sucrase-isomaltase deficiency, congenital, MIM#\t222900\nReview for gene: SI was set to GREEN\nAdded comment: Well established gene-disease association, presents with osmotic diarrhoea. \nSources: Expert Review","entity_name":"SI","entity_type":"gene"},{"created":"2021-02-06T14:42:29.566816+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC2A1 as ready","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-02-06T14:42:29.555710+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a1 has been classified as Green List (High Evidence).","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-02-06T14:42:26.138773+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC2A1 as Green List (high evidence)","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-02-06T14:42:26.129725+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc2a1 has been classified as Green List (High Evidence).","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-02-06T14:42:17.104074+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.234","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC2A1 was added\ngene: SLC2A1 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC2A1 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: SLC2A1 were set to GLUT1 deficiency syndrome 1, infantile onset, severe, 606777; GLUT1 deficiency syndrome 2, childhood onset, 612126; Disorders of glucose transport\nReview for gene: SLC2A1 was set to GREEN\nAdded comment: Well established gene disease association. \nSources: Expert list","entity_name":"SLC2A1","entity_type":"gene"},{"created":"2021-02-06T14:39:07.318920+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC30A10 as ready","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2021-02-06T14:39:07.308570+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a10 has been classified as Green List (High Evidence).","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2021-02-06T14:39:02.899519+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC30A10 as Green List (high evidence)","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2021-02-06T14:39:02.891623+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.232","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc30a10 has been classified as Green List (High Evidence).","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2021-02-06T14:38:53.437732+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.231","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC30A10 was added\ngene: SLC30A10 was added to Miscellaneous Metabolic Disorders. Sources: Expert list\nMode of inheritance for gene: SLC30A10 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC30A10 were set to 22341972\nPhenotypes for gene: SLC30A10 were set to Hypermanganesemia with dystonia 1, MIM#\t613280\nReview for gene: SLC30A10 was set to GREEN\nAdded comment: Hypermanganesemia with dystonia-1 (HMNDYT1) is an autosomal recessive metabolic disorder characterized by increased serum manganese, motor neurodegeneration with extrapyramidal features, polycythemia, and hepatic dysfunction, which leads to cirrhosis in some cases. Intellectual function is preserved.\r\n\r\nMore than 5 unrelated families reported. \nSources: Expert list","entity_name":"SLC30A10","entity_type":"gene"},{"created":"2021-02-06T14:35:35.326358+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC39A14 as ready","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:35:35.318541+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a14 has been classified as Green List (High Evidence).","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:35:35.232628+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC39A14 as ready","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:35:35.219689+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a14 has been classified as Green List (High Evidence).","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:35:30.851730+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC39A14 as Green List (high evidence)","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:35:30.839757+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.236","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a14 has been classified as Green List (High Evidence).","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:35:02.609966+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.235","user_name":"Zornitza Stark","item_type":"entity","text":"gene: SLC39A14 was added\ngene: SLC39A14 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: SLC39A14 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SLC39A14 were set to 27231142; 29685658\nPhenotypes for gene: SLC39A14 were set to Hypermanganesemia with dystonia 2, MIM# 617013\nReview for gene: SLC39A14 was set to GREEN\nAdded comment: Hypermanganesemia with dystonia-2 (HMNDYT2) is an autosomal recessive neurodegenerative disorder characterized predominantly by loss of motor milestones in the first years of life. Affected individuals then develop rapidly progressive abnormal movements, including dystonia, spasticity, bulbar dysfunction, and variable features of parkinsonism, causing loss of ambulation. Cognition may be impaired, but is better preserved than motor function. The disorder results from abnormal accumulation of manganese (Mn), which is toxic to neurons. Chelation therapy, if started early, may provide clinical benefit. More than 5 unrelated families reported. \nSources: Expert Review","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:33:27.298040+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6234","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC39A14 as ready","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:33:27.290692+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6234","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a14 has been classified as Green List (High Evidence).","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:33:19.911245+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6234","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SLC39A14 were changed from  to Hypermanganesemia with dystonia 2, MIM# 617013","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:32:52.001855+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6233","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SLC39A14 were set to ","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:32:33.953783+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6232","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: SLC39A14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:32:16.001758+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.6231","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SLC39A14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231142, 29685658; Phenotypes: Hypermanganesemia with dystonia 2, MIM# 617013; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:32:07.074907+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SLC39A14 as ready","entity_name":"SLC39A14","entity_type":"gene"},{"created":"2021-02-06T14:32:07.062603+11:00","panel_name":"Miscellaneous Metabolic Disorders","panel_id":3468,"panel_version":"0.230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc39a14 has been classified as Green List (High Evidence).","entity_name":"SLC39A14","entity_type":"gene"}]}