{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=669","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=667","results":[{"created":"2022-12-13T13:51:37.208633+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1357","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC6A8 were changed from Creatine deficiency syndrome, X-linked to Cerebral creatine deficiency syndrome 1, MIM# 300352","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2022-12-13T13:51:26.519244+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1356","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC6A8 as Red List (low evidence)","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2022-12-13T13:51:26.504899+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1356","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc6a8 has been classified as Red List (Low Evidence).","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2022-12-13T13:51:13.854697+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1355","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC6A8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cerebral creatine deficiency syndrome 1, MIM# 300352; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"SLC6A8","entity_type":"gene"},{"created":"2022-12-13T13:49:39.912717+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1355","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC6A5 as ready","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2022-12-13T13:49:39.898704+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1355","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc6a5 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2022-12-13T13:49:30.561920+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1355","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC6A5 as Amber List (moderate evidence)","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2022-12-13T13:49:30.550559+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1355","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc6a5 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2022-12-13T13:49:23.155674+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1354","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: SLC6A5.","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2022-12-13T13:49:06.526257+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1354","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC6A5: Rating: AMBER; Mode of pathogenicity: None; Publications: 20301437; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC6A5","entity_type":"gene"},{"created":"2022-12-13T13:42:08.936341+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1354","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC6A19 as ready","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2022-12-13T13:42:08.923714+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1354","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc6a19 has been classified as Red List (Low Evidence).","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2022-12-13T13:42:05.535305+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1354","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC6A19 as Red List (low evidence)","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2022-12-13T13:42:05.523759+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1354","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc6a19 has been classified as Red List (Low Evidence).","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2022-12-13T13:41:47.352739+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1353","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC6A19: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hartnup disorder, MIM# 234500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC6A19","entity_type":"gene"},{"created":"2022-12-13T13:39:54.286895+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1353","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC5A5 as ready","entity_name":"SLC5A5","entity_type":"gene"},{"created":"2022-12-13T13:39:54.267893+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1353","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc5a5 has been classified as Green List (High Evidence).","entity_name":"SLC5A5","entity_type":"gene"},{"created":"2022-12-13T13:39:49.856980+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1353","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC5A5 were changed from Thyroid dyshormonogenesis 1 to Thyroid dyshormonogenesis 1, MIM# 274400","entity_name":"SLC5A5","entity_type":"gene"},{"created":"2022-12-13T13:39:37.869330+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1352","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC5A5 were set to ","entity_name":"SLC5A5","entity_type":"gene"},{"created":"2022-12-13T13:39:18.804687+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1351","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC5A5: Rating: ; Mode of pathogenicity: None; Publications: 33272083; Phenotypes: Thyroid dyshormonogenesis 1, MIM# 274400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC5A5","entity_type":"gene"},{"created":"2022-12-13T13:36:55.565409+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1351","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC5A1 as ready","entity_name":"SLC5A1","entity_type":"gene"},{"created":"2022-12-13T13:36:55.544969+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1351","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc5a1 has been classified as Green List (High Evidence).","entity_name":"SLC5A1","entity_type":"gene"},{"created":"2022-12-13T13:36:44.678569+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1351","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC5A1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glucose/galactose malabsorption, MIM# 606824; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC5A1","entity_type":"gene"},{"created":"2022-12-13T13:34:57.727851+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1351","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC52A3 as ready","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-12-13T13:34:57.703757+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1351","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc52a3 has been classified as Green List (High Evidence).","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-12-13T13:34:53.742241+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1351","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC52A3 were changed from Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Fazio-Londe disease, MIM#211500 to Brown-Vialetto-Van Laere syndrome 1, MIM# 211530","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-12-13T13:34:08.633933+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1350","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC52A3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 1, MIM# 211530; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A3","entity_type":"gene"},{"created":"2022-12-13T13:32:42.400795+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1350","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC52A2 as ready","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-12-13T13:32:42.372124+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1350","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc52a2 has been classified as Green List (High Evidence).","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-12-13T13:32:32.137380+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1350","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC52A2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brown-Vialetto-Van Laere syndrome 2, MIM# 614707; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC52A2","entity_type":"gene"},{"created":"2022-12-13T13:30:43.124781+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1350","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC4A11 as ready","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-12-13T13:30:43.111579+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1350","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc4a11 has been classified as Red List (Low Evidence).","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-12-13T13:30:37.957517+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1350","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SLC4A11 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-12-13T13:30:26.236108+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1349","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC4A11 were changed from Corneal endothelial dystrophy to Corneal endothelial dystrophy and perceptive deafness, MIM# 217400","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-12-13T13:30:13.666659+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1348","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC4A11 as Red List (low evidence)","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-12-13T13:30:13.654268+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1348","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc4a11 has been classified as Red List (Low Evidence).","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-12-13T13:30:01.378042+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1347","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC4A11: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Corneal endothelial dystrophy and perceptive deafness, MIM# 217400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC4A11","entity_type":"gene"},{"created":"2022-12-12T18:58:04.051058+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1347","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: INS as ready","entity_name":"INS","entity_type":"gene"},{"created":"2022-12-12T18:58:04.038267+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1347","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ins has been classified as Green List (High Evidence).","entity_name":"INS","entity_type":"gene"},{"created":"2022-12-12T18:58:00.067220+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1347","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: INS were changed from Diabetes mellitus, permanent neonatal MIM# 618858Permanent neonatal diabetes mellitus-4 (PNDM4) is characterized by chronic hyperglycemia due to severe nonautoimmune insulin deficiency diagnosed in the first months of life to Diabetes mellitus, insulin-dependent, 2, MIM# 125852; Diabetes mellitus, permanent neonatal 4, MIM# 618858; Maturity-onset diabetes of the young, type 10, MIM# 613370","entity_name":"INS","entity_type":"gene"},{"created":"2022-12-12T18:57:43.964351+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1346","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: INS was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"INS","entity_type":"gene"},{"created":"2022-12-12T18:57:33.777820+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1345","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: INS.\nTag treatable tag was added to gene: INS.\nTag endocrine tag was added to gene: INS.","entity_name":"INS","entity_type":"gene"},{"created":"2022-12-12T18:57:18.669099+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1345","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: INS: Changed rating: GREEN","entity_name":"INS","entity_type":"gene"},{"created":"2022-12-12T18:57:09.922166+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1345","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: INS: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Diabetes mellitus, insulin-dependent, 2, MIM# 125852, Diabetes mellitus, permanent neonatal 4, MIM# 618858, Maturity-onset diabetes of the young, type 10, MIM# 613370; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"INS","entity_type":"gene"},{"created":"2022-12-12T18:44:12.809038+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1345","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HBB as ready","entity_name":"HBB","entity_type":"gene"},{"created":"2022-12-12T18:44:12.796869+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1345","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hbb has been classified as Green List (High Evidence).","entity_name":"HBB","entity_type":"gene"},{"created":"2022-12-12T18:44:03.625771+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1345","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HBB were changed from Beta-thalassemia to Sickle cell anaemia, MIM# 603903; Thalassaemia, beta, MIM# 613985","entity_name":"HBB","entity_type":"gene"},{"created":"2022-12-12T18:43:46.667951+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: HBB.\nTag treatable tag was added to gene: HBB.\nTag haematological tag was added to gene: HBB.","entity_name":"HBB","entity_type":"gene"},{"created":"2022-12-12T18:43:31.291174+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Sickle cell anaemia, MIM# 603903, Thalassaemia, beta, MIM# 613985; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HBB","entity_type":"gene"},{"created":"2022-12-12T18:27:01.954900+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HBA2 as ready","entity_name":"HBA2","entity_type":"gene"},{"created":"2022-12-12T18:27:01.941505+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hba2 has been classified as Green List (High Evidence).","entity_name":"HBA2","entity_type":"gene"},{"created":"2022-12-12T18:26:57.308642+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: HBA2.\nTag treatable tag was added to gene: HBA2.\nTag haematological tag was added to gene: HBA2.","entity_name":"HBA2","entity_type":"gene"},{"created":"2022-12-12T18:26:35.465106+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HBA2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemia, alpha-, MIM# 604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HBA2","entity_type":"gene"},{"created":"2022-12-12T18:24:41.923598+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HBA1 as ready","entity_name":"HBA1","entity_type":"gene"},{"created":"2022-12-12T18:24:41.911000+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hba1 has been classified as Green List (High Evidence).","entity_name":"HBA1","entity_type":"gene"},{"created":"2022-12-12T18:24:35.991827+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: HBA1.\nTag haematological tag was added to gene: HBA1.","entity_name":"HBA1","entity_type":"gene"},{"created":"2022-12-12T18:24:24.330486+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HBA1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thalassemias, alpha- , MIM#604131; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"HBA1","entity_type":"gene"},{"created":"2022-12-12T17:43:02.490603+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC4A1 as ready","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:43:02.460678+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc4a1 has been classified as Green List (High Evidence).","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:42:57.109918+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Seb Lunke","item_type":"entity","text":"Tag for review tag was added to gene: SLC4A1.","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:42:42.851013+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1344","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC4A1 were changed from Spherocytosis to Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:42:32.870988+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1343","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC4A1 were set to ","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:42:23.559301+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1342","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SLC4A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:41:48.296194+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1341","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Established gene-disease association.\r\n\r\nChildhood onset, metabolic condition\r\n\r\nTreatment: oral alkali replacement therapy, potassium chloride\r\n\r\nNon-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap; to: Established gene-disease association.\r\n\r\nChildhood onset, metabolic condition\r\n\r\nTreatment: oral alkali replacement therapy, potassium chloride. Not clear if treatment equally applicable to dominant and recessive forms of disease\r\n\r\nNon-genetic confirmatory test: serum bicarbonate, chloride, potassium, urinary pH and anion gap","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:41:17.003262+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1341","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31600044; Phenotypes: Distal renal tubular acidosis 4 with haemolytic anaemia MIM# 611590; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC4A1","entity_type":"gene"},{"created":"2022-12-12T17:36:54.016419+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1341","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC46A1 as ready","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-12-12T17:36:54.004007+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1341","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc46a1 has been classified as Green List (High Evidence).","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-12-12T17:36:42.405360+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1341","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC46A1 were changed from Folate malabsorption, hereditary, MIM# to Folate malabsorption, hereditary, MIM# 229050","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-12-12T17:36:25.526839+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1340","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Established gene-disease association.\r\n\r\nChildhood onset, metabolic disorders\r\n\r\nTreatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral\r\n\r\nNon-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association.\r\n\r\nChildhood onset, metabolic disorder\r\n\r\nTreatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral\r\n\r\nNon-genetic confirmatory test: CSF and serum folate levels","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-12-12T17:36:16.357336+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1340","user_name":"Seb Lunke","item_type":"entity","text":"changed review comment from: Established gene-disease association.\r\n\r\nChildhood onset,\r\n\r\nTreatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral\r\n\r\nNon-genetic confirmatory test: CSF and serum folate levels; to: Established gene-disease association.\r\n\r\nChildhood onset, metabolic disorders\r\n\r\nTreatment: 5-formyltetrahydrofolate (5-formylTHF, folinic acid, Leucovorin) or the active isomer of 5-formylTHF (Isovorin or Fusilev) Parenteral (intramuscular) or high-dose oral\r\n\r\nNon-genetic confirmatory test: CSF and serum folate levels","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-12-12T17:35:42.506449+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1340","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC46A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301716; Phenotypes: Folate malabsorption, hereditary, MIM# 229050; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC46A1","entity_type":"gene"},{"created":"2022-12-12T17:33:04.153312+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1340","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC45A2 as ready","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2022-12-12T17:33:04.140455+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1340","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc45a2 has been classified as Red List (Low Evidence).","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2022-12-12T17:32:59.639942+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1340","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC45A2 were changed from Oculocutaneous albinism, type IV to Albinism, oculocutaneous, type IV, MIM# 606574","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2022-12-12T17:32:49.165956+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1339","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC45A2 as Red List (low evidence)","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2022-12-12T17:32:49.145501+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1339","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc45a2 has been classified as Red List (Low Evidence).","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2022-12-12T17:32:35.467126+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1338","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC45A2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Albinism, oculocutaneous, type IV, MIM# 606574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC45A2","entity_type":"gene"},{"created":"2022-12-12T17:31:34.089832+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1338","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC3A1 as ready","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-12T17:31:34.044188+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1338","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc3a1 has been classified as Red List (Low Evidence).","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-12T17:31:27.387046+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1338","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC3A1 were changed from Cystinuria to Cystinuria, MIM# 220100","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-12T17:31:14.335491+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1337","user_name":"Seb Lunke","item_type":"entity","text":"Classified gene: SLC3A1 as Red List (low evidence)","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-12T17:31:14.323914+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1337","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc3a1 has been classified as Red List (Low Evidence).","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-12T17:30:51.476813+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1336","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC3A1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cystinuria, MIM# 220100; Mode of inheritance: None","entity_name":"SLC3A1","entity_type":"gene"},{"created":"2022-12-12T17:28:15.705328+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1336","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC39A8 as ready","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-12-12T17:28:15.692938+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1336","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc39a8 has been classified as Green List (High Evidence).","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-12-12T17:28:11.825709+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1336","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC39A8 were set to ","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-12-12T17:27:51.716665+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1335","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC39A8: Rating: GREEN; Mode of pathogenicity: None; Publications: 28722865; Phenotypes: Congenital disorder of glycosylation, type IIn , MIM#16721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A8","entity_type":"gene"},{"created":"2022-12-12T17:19:58.718122+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1335","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC39A4 as ready","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2022-12-12T17:19:58.693290+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1335","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc39a4 has been classified as Green List (High Evidence).","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2022-12-12T17:19:53.608866+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1335","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC39A4 were changed from Acrodermatitis enteropathica to Acrodermatitis enteropathica, MIM# 201100","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2022-12-12T17:19:41.734169+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1334","user_name":"Seb Lunke","item_type":"entity","text":"Publications for gene: SLC39A4 were set to ","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2022-12-12T17:18:51.290227+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1333","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC39A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Acrodermatitis enteropathica, MIM# 201100; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SLC39A4","entity_type":"gene"},{"created":"2022-12-12T17:15:32.545645+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1333","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC37A4 as ready","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-12T17:15:32.529303+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1333","user_name":"Seb Lunke","item_type":"entity","text":"Gene: slc37a4 has been classified as Green List (High Evidence).","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-12T17:15:19.669502+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1333","user_name":"Seb Lunke","item_type":"entity","text":"Phenotypes for gene: SLC37A4 were changed from Glycogen storage disease Ib, MIM#232220 to Glycogen storage disease Ib, MIM# 232220; Glycogen storage disease Ic, MIM# 232240; Congenital disorder of glycosylation, type IIw, MIM# 619525","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-12T17:15:01.574028+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1332","user_name":"Seb Lunke","item_type":"entity","text":"Mode of inheritance for gene: SLC37A4 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-12T17:14:41.758338+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1331","user_name":"Seb Lunke","item_type":"entity","text":"Deleted their comment","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-12T17:14:14.874684+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1331","user_name":"Seb Lunke","item_type":"entity","text":"edited their review of gene: SLC37A4: Added comment: Established gene-disease association.\r\n\r\nChildhood onset, metabolic disorder\r\n\r\nTreatment: corn starch, nighttime intragastric continuous glucose infusion, allopurinol, statin, granulocyte-colony stimulating factor (G-CSF), empagliflozin\r\n\r\nNon-genetic confirmatory test: no; Changed phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic, MIM# 232240, Congenital disorder of glycosylation, type IIw, MIM# 619525","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-12T17:13:17.127680+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1331","user_name":"Seb Lunke","item_type":"entity","text":"reviewed gene: SLC37A4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Glycogen storage disease Ib, MIM# 232220, Glycogen storage disease Ic M232240; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SLC37A4","entity_type":"gene"},{"created":"2022-12-12T16:00:53.613343+11:00","panel_name":"gNBS","panel_id":3931,"panel_version":"0.1331","user_name":"Seb Lunke","item_type":"entity","text":"Marked gene: SLC35D1 as ready","entity_name":"SLC35D1","entity_type":"gene"}]}