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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=325",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&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"
}
]
}