{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=325","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=323","results":[{"created":"2024-12-12T13:29:14.415785+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.708","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hfe2 has been classified as Green List (High Evidence).","entity_name":"HFE2","entity_type":"gene"},{"created":"2024-12-12T13:29:05.984793+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.708","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HFE2 were changed from Hemochromatosis, type 2A, 602390 (3) to Haemochromatosis, type 2A, 602390 (3)","entity_name":"HFE2","entity_type":"gene"},{"created":"2024-12-12T13:28:43.449286+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.707","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: TRDN: Rating: GREEN; Mode of pathogenicity: None; Publications: 31983240, 25922419, 30649896, 22422768; Phenotypes: Cardiac arrhythmia syndrome, with or without skeletal muscle weakness MIM#615441, Catecholaminergic polymorphic ventricular tachycardia MONDO:0017990; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TRDN","entity_type":"gene"},{"created":"2024-12-12T13:28:37.838501+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.707","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: BTD: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Biotinidase deficiency MIM#253260; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BTD","entity_type":"gene"},{"created":"2024-12-12T13:28:35.744258+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.707","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLYCTK as ready","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2024-12-12T13:28:35.730557+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.707","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: glyctk has been classified as Green List (High Evidence).","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2024-12-12T13:28:32.292278+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.707","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLYCTK were changed from D-glyceric aciduria, 220120 (3) to D-glyceric aciduria, MIM#220120","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2024-12-12T13:28:19.898383+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.706","user_name":"Marta Cifuentes Ochoa","item_type":"entity","text":"reviewed gene: MARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25754315, 16672289, 22448145, 22448145, 23250129; Phenotypes: Combined oxidative phosphorylation deficiency 25, MIM #616430, MONDO:0014636, Spastic ataxia 3, autosomal recessive, MIM #611390, MONDO:0012664; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MARS2","entity_type":"gene"},{"created":"2024-12-12T13:27:53.099307+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.706","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLYCTK were set to ","entity_name":"GLYCTK","entity_type":"gene"},{"created":"2024-12-12T13:25:37.570688+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.705","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: BSND as ready","entity_name":"BSND","entity_type":"gene"},{"created":"2024-12-12T13:25:37.550879+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.705","user_name":"Lilian Downie","item_type":"entity","text":"Gene: bsnd has been classified as Green List (High Evidence).","entity_name":"BSND","entity_type":"gene"},{"created":"2024-12-12T13:25:33.562909+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.705","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LHX3 as ready","entity_name":"LHX3","entity_type":"gene"},{"created":"2024-12-12T13:25:33.545480+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.705","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lhx3 has been classified as Green List (High Evidence).","entity_name":"LHX3","entity_type":"gene"},{"created":"2024-12-12T13:25:29.624270+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.705","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LHX3 were changed from Pituitary hormone deficiency, combined, 3, 221750 (3) to Pituitary hormone deficiency, combined, 3, MIM# 221750","entity_name":"LHX3","entity_type":"gene"},{"created":"2024-12-12T13:25:26.171262+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.704","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: BSND were set to ","entity_name":"BSND","entity_type":"gene"},{"created":"2024-12-12T13:25:09.860786+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.703","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LHX3 were set to ","entity_name":"LHX3","entity_type":"gene"},{"created":"2024-12-12T13:25:00.298981+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.702","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: BSND: Rating: GREEN; Mode of pathogenicity: None; Publications: 11687798, 19646679, 16572343; Phenotypes: Bartter syndrome, type 4a MIM#602522; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BSND","entity_type":"gene"},{"created":"2024-12-12T13:24:18.512650+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.702","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KY as ready","entity_name":"KY","entity_type":"gene"},{"created":"2024-12-12T13:24:18.495538+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.702","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ky has been classified as Green List (High Evidence).","entity_name":"KY","entity_type":"gene"},{"created":"2024-12-12T13:24:05.811813+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.702","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KY were changed from Myopathy, myofibrillar, 7, 617114 (3), Autosomal recessive to Myopathy, myofibrillar, 7 (MIM#617114)","entity_name":"KY","entity_type":"gene"},{"created":"2024-12-12T13:23:57.508575+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.701","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: TNFSF11: Rating: GREEN; Mode of pathogenicity: None; Publications: 17632511, 36031188, 32940787, 32048120, 10984520; Phenotypes: Osteopetrosis, autosomal recessive 2 MIM#259710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TNFSF11","entity_type":"gene"},{"created":"2024-12-12T13:23:50.267742+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.701","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KY were set to ","entity_name":"KY","entity_type":"gene"},{"created":"2024-12-12T13:21:46.282267+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.700","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: LMOD3: Rating: GREEN; Mode of pathogenicity: None; Publications: 25250574, 28815944, 30291184; Phenotypes: Nemaline myopathy 10, 616165 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LMOD3","entity_type":"gene"},{"created":"2024-12-12T13:20:49.670840+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.700","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: BCKDHB as ready","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2024-12-12T13:20:49.643031+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.700","user_name":"Lilian Downie","item_type":"entity","text":"Gene: bckdhb has been classified as Green List (High Evidence).","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2024-12-12T13:20:40.233147+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.700","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: BCKDHB were changed from Maple syrup urine disease, type Ib, 248600 (3) to Maple syrup urine disease, type Ib 620698","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2024-12-12T13:19:50.921007+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.699","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: BCKDHB were set to ","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2024-12-12T13:19:32.966454+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.698","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: BCKDHB: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301495, 34883003, 34556729, 34288399; Phenotypes: Maple syrup urine disease, type Ib 620698; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHB","entity_type":"gene"},{"created":"2024-12-12T13:18:59.829076+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.698","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KLHL7 as ready","entity_name":"KLHL7","entity_type":"gene"},{"created":"2024-12-12T13:18:59.814954+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.698","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: klhl7 has been classified as Green List (High Evidence).","entity_name":"KLHL7","entity_type":"gene"},{"created":"2024-12-12T13:18:54.522565+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.698","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KLHL7 were changed from PERCHING syndrome, 617055 (3) to PERCHING syndrome, MIM#617055","entity_name":"KLHL7","entity_type":"gene"},{"created":"2024-12-12T13:18:38.309742+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.697","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KLHL7 were set to ","entity_name":"KLHL7","entity_type":"gene"},{"created":"2024-12-12T13:16:54.283139+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.696","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POP1 as ready","entity_name":"POP1","entity_type":"gene"},{"created":"2024-12-12T13:16:54.270744+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.696","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pop1 has been classified as Green List (High Evidence).","entity_name":"POP1","entity_type":"gene"},{"created":"2024-12-12T13:16:48.319063+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.696","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POP1 were changed from Anauxetic dysplasia 2, 617396 (3), Autosomal recessive to Anauxetic dysplasia 2, MIM#617396","entity_name":"POP1","entity_type":"gene"},{"created":"2024-12-12T13:16:33.978115+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.695","user_name":"Andrew Coventry","item_type":"entity","text":"reviewed gene: TMEM70: Rating: GREEN; Mode of pathogenicity: None; Publications: 18953340, 21147908, 30950220; Phenotypes: Mitochondrial disease MONDO:0044970; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TMEM70","entity_type":"gene"},{"created":"2024-12-12T13:16:32.561672+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.695","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POP1 were set to ","entity_name":"POP1","entity_type":"gene"},{"created":"2024-12-12T13:15:46.905437+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.694","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMGNT2 as ready","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-12-12T13:15:46.887407+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.694","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomgnt2 has been classified as Green List (High Evidence).","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-12-12T13:15:38.977721+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.694","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: LIPT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24341803, 29681092, 27977873; Phenotypes: Lipoyltransferase 1 deficiency, 616299 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LIPT1","entity_type":"gene"},{"created":"2024-12-12T13:15:38.712736+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.694","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMGNT2 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies, type A, 8, 614830 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 8, 618135; Muscular dystrophy-dystroglycanopathy (limb-girdle) type C, 8, MIM#618135","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-12-12T13:15:11.089107+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.693","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POMGNT2 were set to ","entity_name":"POMGNT2","entity_type":"gene"},{"created":"2024-12-12T13:15:00.912291+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.692","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ATP6V0A4 as ready","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2024-12-12T13:15:00.902761+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.692","user_name":"Lilian Downie","item_type":"entity","text":"Gene: atp6v0a4 has been classified as Green List (High Evidence).","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2024-12-12T13:14:53.327270+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.692","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: ATP6V0A4 were changed from Renal tubular acidosis, distal, autosomal recessive, 602722 (3) to Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2024-12-12T13:14:39.588649+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.691","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMC as ready","entity_name":"POMC","entity_type":"gene"},{"created":"2024-12-12T13:14:39.575466+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.691","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomc has been classified as Green List (High Evidence).","entity_name":"POMC","entity_type":"gene"},{"created":"2024-12-12T13:14:35.592519+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.691","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMC were changed from Obesity, adrenal insufficiency, and red hair due to POMC deficiency, 609734 (3) to Obesity, adrenal insufficiency, and red hair due to POMC deficiency, MIM#609734","entity_name":"POMC","entity_type":"gene"},{"created":"2024-12-12T13:14:31.204674+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.690","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ATP6V0A4 were set to ","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2024-12-12T13:14:11.010518+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.689","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: POMC were set to ","entity_name":"POMC","entity_type":"gene"},{"created":"2024-12-12T13:14:07.461401+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.688","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: ATP6V0A4: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22872862, 12414817, 29311258; Phenotypes: Distal renal tubular acidosis 3, with or without sensorineural hearing loss MIM#602722; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ATP6V0A4","entity_type":"gene"},{"created":"2024-12-12T13:11:35.027572+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.688","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IARS2 as ready","entity_name":"IARS2","entity_type":"gene"},{"created":"2024-12-12T13:11:34.998560+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.688","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iars2 has been classified as Green List (High Evidence).","entity_name":"IARS2","entity_type":"gene"},{"created":"2024-12-12T13:10:22.782649+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.688","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: IARS2 were changed from ?Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia to Cataracts, growth hormone deficiency, sensory neuropathy, sensorineural hearing loss, and skeletal dysplasia, MIM#616007","entity_name":"IARS2","entity_type":"gene"},{"created":"2024-12-12T13:09:51.841397+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.687","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: IARS2 were set to ","entity_name":"IARS2","entity_type":"gene"},{"created":"2024-12-12T13:09:06.184090+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.686","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HINT1 as ready","entity_name":"HINT1","entity_type":"gene"},{"created":"2024-12-12T13:09:06.164519+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.686","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hint1 has been classified as Green List (High Evidence).","entity_name":"HINT1","entity_type":"gene"},{"created":"2024-12-12T13:09:01.123417+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.686","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HINT1 were changed from Neuromyotonia and axonal neuropathy, autosomal recessive, 137200 (3) to Neuromyotonia and axonal neuropathy, autosomal recessive, MIM#137200","entity_name":"HINT1","entity_type":"gene"},{"created":"2024-12-12T13:08:09.904708+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.685","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HGSNAT as ready","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2024-12-12T13:08:09.894119+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.685","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hgsnat has been classified as Green List (High Evidence).","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2024-12-12T13:07:56.426162+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.685","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HGSNAT were changed from Mucopolysaccharidosis type IIIC (Sanfilippo C), 252930 (3) to Mucopolysaccharidosis type IIIC (Sanfilippo C), MIM#252930","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2024-12-12T13:07:38.038986+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.684","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HGSNAT were set to ","entity_name":"HGSNAT","entity_type":"gene"},{"created":"2024-12-12T13:07:07.689761+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.683","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDUFAF2 as ready","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2024-12-12T13:07:07.672827+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.683","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndufaf2 has been classified as Green List (High Evidence).","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2024-12-12T13:07:00.410560+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.683","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDUFAF2 were changed from Leigh syndrome, 256000 (3) to Mitochondrial complex I deficiency, nuclear type 10, MIM#618233","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2024-12-12T13:06:44.809531+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.682","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NDUFAF2 were set to ","entity_name":"NDUFAF2","entity_type":"gene"},{"created":"2024-12-12T13:06:17.742306+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.681","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LPIN1 as ready","entity_name":"LPIN1","entity_type":"gene"},{"created":"2024-12-12T13:06:17.731053+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.681","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lpin1 has been classified as Green List (High Evidence).","entity_name":"LPIN1","entity_type":"gene"},{"created":"2024-12-12T13:06:09.061782+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.681","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LPIN1 were changed from Myoglobinuria, acute recurrent, autosomal recessive, 268200 (3) to Myoglobinuria, acute recurrent, autosomal recessive, MIM#268200","entity_name":"LPIN1","entity_type":"gene"},{"created":"2024-12-12T13:05:54.198521+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.680","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LPIN1 were set to ","entity_name":"LPIN1","entity_type":"gene"},{"created":"2024-12-12T13:05:47.587660+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.679","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: SLC9A3 as ready","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2024-12-12T13:05:47.577630+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.679","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Downgrade to RED for severity (mild, children thrive on normal diet)","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2024-12-12T13:05:47.523892+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.679","user_name":"Lilian Downie","item_type":"entity","text":"Gene: slc9a3 has been classified as Green List (High Evidence).","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2024-12-12T13:05:17.798180+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.679","user_name":"Lilian Downie","item_type":"entity","text":"Tag for review tag was added to gene: SLC9A3.","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2024-12-12T13:05:04.694472+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.679","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: L2HGDH as ready","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2024-12-12T13:05:04.665707+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.679","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: l2hgdh has been classified as Green List (High Evidence).","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2024-12-12T13:04:59.719170+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.679","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: L2HGDH were changed from L-2-hydroxyglutaric aciduria, 236792 (3) to L-2-hydroxyglutaric aciduria, MIM#236792","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2024-12-12T13:04:39.374317+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.678","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: L2HGDH were set to ","entity_name":"L2HGDH","entity_type":"gene"},{"created":"2024-12-12T13:04:32.369759+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.677","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: SLC9A3 were set to ","entity_name":"SLC9A3","entity_type":"gene"},{"created":"2024-12-12T13:03:14.185501+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.676","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HEXB as ready","entity_name":"HEXB","entity_type":"gene"},{"created":"2024-12-12T13:03:14.169952+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.676","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hexb has been classified as Green List (High Evidence).","entity_name":"HEXB","entity_type":"gene"},{"created":"2024-12-12T13:02:52.965584+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.676","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HEXB were changed from Sandhoff disease, infantile, juvenile, and adult forms, 268800 (3) to Sandhoff disease, infantile, juvenile, and adult forms, MIM#268800","entity_name":"HEXB","entity_type":"gene"},{"created":"2024-12-12T13:02:28.934772+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.675","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HEXB were set to ","entity_name":"HEXB","entity_type":"gene"},{"created":"2024-12-12T13:01:02.994731+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.674","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: LRRC6 as ready","entity_name":"LRRC6","entity_type":"gene"},{"created":"2024-12-12T13:01:02.985027+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.674","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Note alternative gene name DNAAF11","entity_name":"LRRC6","entity_type":"gene"},{"created":"2024-12-12T13:01:02.912212+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.674","user_name":"Lilian Downie","item_type":"entity","text":"Gene: lrrc6 has been classified as Green List (High Evidence).","entity_name":"LRRC6","entity_type":"gene"},{"created":"2024-12-12T13:01:00.889506+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.674","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: LRRC6 as ready","entity_name":"LRRC6","entity_type":"gene"},{"created":"2024-12-12T13:01:00.879858+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.674","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Note alternative gene name DNAAF11","entity_name":"LRRC6","entity_type":"gene"},{"created":"2024-12-12T13:01:00.800636+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.674","user_name":"Lilian Downie","item_type":"entity","text":"Gene: lrrc6 has been classified as Green List (High Evidence).","entity_name":"LRRC6","entity_type":"gene"},{"created":"2024-12-12T13:00:32.274915+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.674","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: LRRC6 were set to ","entity_name":"LRRC6","entity_type":"gene"},{"created":"2024-12-12T12:58:58.639418+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.673","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HEPACAM as ready","entity_name":"HEPACAM","entity_type":"gene"},{"created":"2024-12-12T12:58:58.612881+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.673","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hepacam has been classified as Green List (High Evidence).","entity_name":"HEPACAM","entity_type":"gene"},{"created":"2024-12-12T12:58:57.679196+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.673","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: SLC26A2 as ready","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2024-12-12T12:58:57.672480+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.673","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: ClinGen has curated this gene for 4 split disease entities (see Mondo terms) when curating consider genotype-phenotype","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2024-12-12T12:58:57.605736+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.673","user_name":"Lilian Downie","item_type":"entity","text":"Gene: slc26a2 has been classified as Green List (High Evidence).","entity_name":"SLC26A2","entity_type":"gene"},{"created":"2024-12-12T12:58:55.256183+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.673","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HEPACAM were changed from Megalencephalic leukoencephalopathy with subcortical cysts 2A, 613925 (3) to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#613925 (3)","entity_name":"HEPACAM","entity_type":"gene"},{"created":"2024-12-12T12:58:44.458494+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.672","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HEPACAM were set to ","entity_name":"HEPACAM","entity_type":"gene"},{"created":"2024-12-12T12:58:16.224268+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HCFC1 as ready","entity_name":"HCFC1","entity_type":"gene"},{"created":"2024-12-12T12:58:16.209489+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hcfc1 has been classified as Green List (High Evidence).","entity_name":"HCFC1","entity_type":"gene"},{"created":"2024-12-12T12:58:10.229203+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.671","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCFC1 were changed from Mental retardation, X-linked 3 (methylmalonic acidemia and homocysteinemia, cblX type ), 309541 (3) to Methylmalonic aciduria and homocysteinemia, cblX type, MIM#309541","entity_name":"HCFC1","entity_type":"gene"}]}