HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220790,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=734",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=732",
"results": [
{
"created": "2022-10-05T18:40:05.641559+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ASL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininosuccinic aciduria MIM#207900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:37:38.790261+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSB as ready",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:37:38.780233+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsb has been classified as Green List (High Evidence).",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:37:35.223240+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.212",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy)\t 253200; Mucopolysaccharidosis type VI (Maroteaux-Lamy) 253200 to Mucopolysaccharidosis type VI (Maroteaux-Lamy), MIM# 253200; MONDO:0009661",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:37:15.137437+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.211",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSB were set to ",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:36:48.656578+11:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.210",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:36:00.175047+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:35:31.035733+11:00",
"panel_name": "Lysosomal Storage Disorder",
"panel_id": 181,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:35:11.880623+11:00",
"panel_name": "Macrocephaly_Megalencephaly",
"panel_id": 135,
"panel_version": "0.121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:34:50.967724+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:34:28.452930+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARSB as ready",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:34:28.443010+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arsb has been classified as Green List (High Evidence).",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:32:21.577350+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.281",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARSB were changed from Mucopolysaccharidosis type VI (Maroteaux-Lamy) to Mucopolysaccharidosis VI (MPS6, MIM# 253200",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:32:11.107895+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.280",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ARSB were set to ",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:31:59.554314+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARSB.\nTag clinical trial tag was added to gene: ARSB.",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:31:27.092978+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARSB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31142378; Phenotypes: Mucopolysaccharidosis VI (MPS6, MIM# 253200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARSB",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:30:50.337614+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:30:50.327992+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:30:09.014451+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:29:46.302126+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:29:31.331993+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4957",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:29:23.017059+11:00",
"panel_name": "Hereditary Spastic Paraplegia - paediatric",
"panel_id": 317,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:29:09.609297+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:29:09.598749+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:29:00.654896+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4956",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:28:32.528342+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.507",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ARG1 were changed from to Argininaemia MIM#207800",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:28:08.630635+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:27:40.691754+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:27:33.774116+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ARG1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:27:04.883250+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:26:53.334164+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:25:57.029950+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1675",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:25:40.072479+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:25:22.985278+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ARG1 as ready",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:25:22.975690+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: arg1 has been classified as Green List (High Evidence).",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:25:16.167531+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ARG1.",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:25:07.432645+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ARG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Argininaemia MIM#207800; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARG1",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:24:04.953654+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AHCY.",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:23:34.270012+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AHCY.",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:20:12.014670+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AHCY.",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:19:57.786810+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AHCY as ready",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:19:57.774206+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ahcy has been classified as Green List (High Evidence).",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:19:50.968578+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.279",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: AHCY was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:19:39.106396+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: AHCY.",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:19:29.676630+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AHCY: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypermethioninemia with deficiency of S-adenosylhomocysteine hydrolase, MIM#613752; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AHCY",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:18:34.993241+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: AGL as ready",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:18:34.984804+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: agl has been classified as Green List (High Evidence).",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:18:27.460967+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.278",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: AGL were set to ",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:18:06.844617+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: AGL: Changed publications: 20631546, 27106217",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:17:48.244343+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: AGL: Rating: GREEN; Mode of pathogenicity: None; Publications: 20631546; Phenotypes: Glycogen storage disease IIIa and IIIb, MIM# 232400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "AGL",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:16:11.129154+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HOXD13 as ready",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:16:11.118597+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:16:08.443290+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HOXD13 were changed from brachydactyly to Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200; Syndactyly, type V, MIM# 186300; Synpolydactyly 1, MIM# 186000; Brachydactyly-syndactyly syndrome, MIM# 610713",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:16:00.929196+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HOXD13 were set to 12649808; 17236141",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:15:49.896722+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXD13 was changed from BOTH monoallelic and biallelic, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:15:42.558605+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HOXD13 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:15:30.211221+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HOXD13 as Green List (high evidence)",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:15:30.202575+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hoxd13 has been classified as Green List (High Evidence).",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:15:21.907670+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: HOXD13: Rating: GREEN; Mode of pathogenicity: None; Publications: 34777468, 32509852; Phenotypes: Brachydactyly, type E 113300 Brachydactyly, type D, MIM# 113200, Syndactyly, type V, MIM# 186300, Synpolydactyly 1, MIM# 186000, Brachydactyly-syndactyly syndrome, MIM# 610713; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "HOXD13",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:13:44.887901+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GDF5 as ready",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:13:44.869923+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf5 has been classified as Green List (High Evidence).",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:13:42.432275+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GDF5 were changed from brachydactyly to Brachydactyly, type A1, C, MIM# 615072; Brachydactyly, type A2 MIM#112600; Brachydactyly, type C, MIM# 113100; Symphalangism, proximal, 1B, MIM# 615298",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:13:31.507871+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GDF5 as Green List (high evidence)",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:13:31.492003+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gdf5 has been classified as Green List (High Evidence).",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-10-05T18:13:22.287143+11:00",
"panel_name": "Hand and foot malformations",
"panel_id": 3729,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GDF5: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Brachydactyly, type A1, C, MIM# 615072, Brachydactyly, type A2 MIM#112600, Brachydactyly, type C, MIM# 113100, Symphalangism, proximal, 1B, MIM# 615298; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "GDF5",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:56:38.054215+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SMN1 as ready",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:56:38.045886+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: smn1 has been classified as Green List (High Evidence).",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:56:33.954341+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.277",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SMN1 were changed from Spinal muscular atrophy type 1, 253300; Spinal muscular atrophy type 2, 253550; Spinal muscular atrophy type 3, 253400 to Spinal muscular atrophy type 1, MIM#253300",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:55:46.745388+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: SMN1.\nTag clinical trial tag was added to gene: SMN1.",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:55:23.516523+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SMN1.\nTag treatable tag was added to gene: SMN1.\nTag clinical trial tag was added to gene: SMN1.",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:55:07.693402+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SMN1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Spinal muscular atrophy-1, MIM# 253300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SMN1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:52:47.954676+11:00",
"panel_name": "Hyperammonaemia",
"panel_id": 3470,
"panel_version": "0.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:52:30.915609+11:00",
"panel_name": "Cardiomyopathy_Paediatric",
"panel_id": 3270,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:52:05.922780+11:00",
"panel_name": "Rhabdomyolysis",
"panel_id": 3084,
"panel_version": "0.90",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:51:33.220133+11:00",
"panel_name": "Mitochondrial disease",
"panel_id": 203,
"panel_version": "0.836",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:51:05.501585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:50:46.843778+11:00",
"panel_name": "Fatty Acid Oxidation Defects",
"panel_id": 103,
"panel_version": "1.8",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:50:31.422179+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: ACADVL.",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:50:20.859426+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ACADVL: Rating: GREEN; Mode of pathogenicity: None; Publications: 31372341, 32885845; Phenotypes: VLCAD deficiency, MIM# 201475; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ACADVL",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:47:58.509446+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALE as ready",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:47:58.499987+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gale has been classified as Green List (High Evidence).",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:47:28.022393+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALE.",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:47:00.345929+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALE.",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:46:41.020798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALE.",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:46:32.593518+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALE.",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:46:24.306410+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALE: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactose epimerase deficiency MIM#230350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALE",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:37:52.893328+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALK1 as ready",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:37:52.884526+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: galk1 has been classified as Green List (High Evidence).",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:37:35.751016+11:00",
"panel_name": "Cataract",
"panel_id": 66,
"panel_version": "0.345",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALK1.",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:37:21.169095+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALK1.",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:37:12.424530+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALK1.",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:37:03.455452+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALK1.",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:36:47.437869+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.276",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GALK1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Galactokinase deficiency with cataracts MIM#230200; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GALK1",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:32:14.745938+11:00",
"panel_name": "Miscellaneous Metabolic Disorders",
"panel_id": 3468,
"panel_version": "1.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALT.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:31:57.407412+11:00",
"panel_name": "Liver Failure_Paediatric",
"panel_id": 3400,
"panel_version": "1.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALT.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:31:39.954599+11:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.306",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALT.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:31:22.324436+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.217",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALT.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:31:05.503189+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.4955",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALT.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:30:26.715567+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.343",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: GALT.",
"entity_name": "GALT",
"entity_type": "gene"
},
{
"created": "2022-10-05T17:29:47.793585+11:00",
"panel_name": "Cholestasis",
"panel_id": 78,
"panel_version": "0.236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GALT as ready",
"entity_name": "GALT",
"entity_type": "gene"
}
]
}