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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=316",
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"results": [
{
"created": "2024-12-27T17:14:30.953663+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.969",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: CYBA were changed from Chronic granulomatous disease, autosomal, due to deficiency of CYBA, 233690 (3) to Chronic granulomatous disease 4 MIM#233690",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:14:14.303896+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.968",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CYBA were set to ",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:14:07.002673+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS4 as ready",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:14:06.984019+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs4 has been classified as Green List (High Evidence).",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:14:04.004500+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.967",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS4 were changed from Bardet-Biedl syndrome 4, 615982 (3) to Bardet-Biedl syndrome 4, MIM#615982",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:13:54.517155+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.966",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CYBA: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 22876374; Phenotypes: Chronic granulomatous disease 4 MIM#233690; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYBA",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:13:50.885038+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS4: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 4, MIM#615982; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:13:09.583657+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: BBS2 as ready",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:13:09.568929+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: bbs2 has been classified as Green List (High Evidence).",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:13:06.717553+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.966",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: BBS2 were changed from Bardet-Biedl syndrome 2, 615981 (3) to Bardet-Biedl syndrome 2, MIM# 615981",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:12:25.271466+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: BBS2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Bardet-Biedl syndrome 2, MIM# 615981; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "BBS2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:11:32.595175+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ASS1 as ready",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:11:32.582067+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ass1 has been classified as Green List (High Evidence).",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:11:28.944342+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.965",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ASS1 were changed from Citrullinemia, 215700 (3) to Citrullinaemia MIM# 215700",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:11:13.102047+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.964",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ASS1 were set to ",
"entity_name": "ASS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:10:34.781580+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARX as ready",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:10:34.769297+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arx has been classified as Green List (High Evidence).",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:10:32.130225+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.963",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARX were changed from Hydranencephaly with abnormal genitalia, 300215 (3) to Developmental and epileptic encephalopathy 1, MIM#30835; Hydranencephaly with abnormal genitalia, MIM#300215; Intellectual developmental disorder, X-linked 29, MIM#300419; Lissencephaly, X-linked 2, MIM#300215; Partington syndrome, MIM#309510; Proud syndrome, MIM#300004",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:10:19.485346+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.962",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARX were set to ",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:09:49.208850+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.961",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARX: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 1 MIM#308350, Hydranencephaly with abnormal genitalia MIM#300215, Lissencephaly, X-linked 2 MIM#300215, Intellectual disability, X-linked 29 and others MIM#300419, Partington syndrome MIM#309510, Proud syndrome MIM#300004; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "ARX",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:08:26.179338+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.961",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Phenotypes for gene: CHRNE were changed from Myasthenic syndrome, congenital, 4A, slow-channel, 605809 (3) to Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809; Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324; Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:08:13.594272+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALG1 as ready",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:08:13.585116+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alg1 has been classified as Green List (High Evidence).",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:08:09.930920+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.960",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALG1 were changed from Congenital disorder of glycosylation, type Ik, 608540 (3) to Congenital disorder of glycosylation, type Ik, MIM# 608540",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:08:05.922507+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.959",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CHRNE were set to ",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:58.902085+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.958",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALG1 were set to ",
"entity_name": "ALG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:36.025419+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDOB as ready",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:35.994693+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldob has been classified as Green List (High Evidence).",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:32.985598+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDOB were changed from Fructose intolerance, 229600 (3) to Fructose intolerance, hereditary, MIM# 229600",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:22.711680+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDOB were set to ",
"entity_name": "ALDOB",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:08.841155+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.955",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: CD40LG were set to ",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:00.393430+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALDH5A1 as ready",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:07:00.350724+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: aldh5a1 has been classified as Green List (High Evidence).",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:56.999498+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.954",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALDH5A1 were changed from Succinic semialdehyde dehydrogenase deficiency, 271980 (3) to Succinic semialdehyde dehydrogenase deficiency, MIM# 271980",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:44.371294+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALDH5A1 were set to ",
"entity_name": "ALDH5A1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:30.334232+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.952",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: COQ8B as ready",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:30.322395+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.952",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: coq8b has been classified as Green List (High Evidence).",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:25.568908+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.952",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: COQ8B were set to ",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:11.671913+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRV1 as ready",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:11.656592+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrv1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:08.220390+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRV1 were changed from Usher syndrome, type 2C, 605472 (3) to Usher syndrome, type 2C, MIM# 605472",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:06:04.181980+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.950",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: COQ8B: Rating: ; Mode of pathogenicity: None; Publications: PMID: 35483523; Phenotypes: Nephrotic syndrome, type 9 MIM#615573; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COQ8B",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:05:58.391715+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRV1 were set to ",
"entity_name": "ADGRV1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:05:36.409629+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADGRG1 as ready",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:05:36.389381+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adgrg1 has been classified as Green List (High Evidence).",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:05:33.605473+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.949",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADGRG1 were changed from Polymicrogyria, bilateral frontoparietal, 606854 (3) to Polymicrogyria, bilateral frontoparietal, MIM#606854",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:05:23.603601+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.948",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADGRG1 were set to ",
"entity_name": "ADGRG1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:04:56.010467+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADA2 as ready",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:04:55.988701+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ada2 has been classified as Green List (High Evidence).",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:04:52.814500+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.947",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ADA2 were changed from Polyarteritis nodosa, childhood-onset, 615688 (3) to Vasculitis, autoinflammation, immunodeficiency, and haematologic defects syndrome, MIM# 615688",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:04:37.595745+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.946",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ADA2 were set to ",
"entity_name": "ADA2",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:01:56.770259+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LARGE1 as ready",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:01:56.748642+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: large1 has been classified as Green List (High Evidence).",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:01:42.744740+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.945",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LARGE1 were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 6, 613154 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, MIM #613154",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:01:29.887020+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.944",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LARGE1 were set to ",
"entity_name": "LARGE1",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:01:01.220031+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LRP4 as ready",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:01:01.202440+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lrp4 has been classified as Green List (High Evidence).",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:58.040397+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.943",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRP4 were changed from Cenani-Lenz syndactyly syndrome, 212780 (3) to Cenani-Lenz syndactyly syndrome, MIM #212780",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:55.045104+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.942",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CHRNE as ready",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:55.028119+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.942",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: chrne has been classified as Green List (High Evidence).",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:46.920384+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.942",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LRP4 were set to ",
"entity_name": "LRP4",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:35.018030+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.941",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CHRNE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301347; Phenotypes: Myasthenic syndrome, congenital, 4A, slow-channel MIM#605809, Myasthenic syndrome, congenital, 4B, fast-channel MIM#616324, Myasthenic syndrome, congenital, 4C, associated with acetylcholine receptor deficiency MIM#608931; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CHRNE",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:25.089478+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBOAT7 as ready",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:25.075989+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mboat7 has been classified as Green List (High Evidence).",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:22.066590+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.941",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MBOAT7 were changed from Mental retardation, autosomal recessive 57, 617188 (3) to Intellectual developmental disorder, autosomal recessive 57, MIM #617188",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-12-27T17:00:05.521009+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.940",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MBOAT7 were set to ",
"entity_name": "MBOAT7",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:59:42.576581+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MC2R as ready",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:59:42.555513+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mc2r has been classified as Green List (High Evidence).",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:59:39.404396+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MC2R were changed from Glucocorticoid deficiency, due to ACTH unresponsiveness, 202200 (3) to Glucocorticoid deficiency, due to ACTH unresponsiveness, MIM #202200",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:59:27.856386+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MC2R were set to ",
"entity_name": "MC2R",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:57:28.755373+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MRAP as ready",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:57:28.730311+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mrap has been classified as Green List (High Evidence).",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:57:25.274301+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MRAP were changed from Glucocorticoid deficiency 2, 607398 (3) to Glucocorticoid deficiency 2, MIM #607398",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:57:14.136526+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MRAP were set to ",
"entity_name": "MRAP",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:56:50.380281+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MESP2 as ready",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:56:50.366593+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mesp2 has been classified as Green List (High Evidence).",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:56:46.938153+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MESP2 were changed from Spondylocostal dysostosis 2, autosomal recessive, 608681 (3) to Spondylocostal dysostosis 2, MIM #608681",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:56:45.275412+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.934",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: CD40LG as ready",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:56:45.253964+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.934",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: cd40lg has been classified as Green List (High Evidence).",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:56:33.207001+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.934",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: CD40LG: Rating: GREEN; Mode of pathogenicity: None; Publications: 7679801, 7679206, 8094231, 9933119, 15358621, 15997875, 7678782, 7915248, 15367912, 7518839, 16311023, 9933119, 12402041, 7882172, 33475257; Phenotypes: Immunodeficiency, X-linked, with hyper-IgM MIM# 308230; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "CD40LG",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:56:32.228689+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MESP2 were set to ",
"entity_name": "MESP2",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:17:43.245106+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MTRR as ready",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:17:43.228750+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mtrr has been classified as Green List (High Evidence).",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:17:38.641455+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MTRR were changed from Homocystinuria-megaloblastic anemia, cbl E type, 236270 (3) to Homocystinuria-megaloblastic anaemia, cbl E type, MIM #236270",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:17:21.891734+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.932",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MTRR were set to ",
"entity_name": "MTRR",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:16:44.980594+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRPS1 as ready",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:16:44.967099+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prps1 has been classified as Green List (High Evidence).",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:16:41.943672+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.931",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRPS1 were changed from Arts syndrome, 301835 (3) to PRPS1 deficiency disorder MONDO:0100061; Phosphoribosylpyrophosphate synthetase superactivity MIM#300661 MONDO:0010395",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:16:21.665588+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.930",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PRPS1 was changed from X-LINKED: hemizygous mutation in males, biallelic mutations in females to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "PRPS1",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:15:43.795253+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TF as ready",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:15:43.781343+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tf has been classified as Green List (High Evidence).",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:15:40.672617+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.929",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TF were changed from Atransferrinemia MIM#209300 to Atransferrinaemia MIM#209300",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:15:30.347817+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.928",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TF were changed from Atransferrinemia, 209300 (3) to Atransferrinemia MIM#209300",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:15:19.492255+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.927",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TF were set to ",
"entity_name": "TF",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:14:37.567215+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NBAS as ready",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:14:37.558100+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nbas has been classified as Green List (High Evidence).",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:14:17.850870+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.926",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NBAS were changed from Short stature, optic nerve atrophy, and Pelger-Huet anomaly, 614800 (3) to Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800; Infantile liver failure syndrome 2, MIM#616483",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:14:01.985977+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.925",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBAS were set to 20577004; 26073778",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:13:43.639175+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: NBAS: Rating: GREEN; Mode of pathogenicity: None; Publications: 31761904; Phenotypes: Short stature, optic nerve atrophy, and Pelger-Huet anomaly, MIM#614800, Infantile liver failure syndrome 2, MIM#616483; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "NBAS",
"entity_type": "gene"
},
{
"created": "2024-12-27T16:11:56.455850+11:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.924",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NBAS were set to ",
"entity_name": "NBAS",
"entity_type": "gene"
}
]
}