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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=662",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=660",
"results": [
{
"created": "2022-12-19T14:33:27.768564+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:33:20.893196+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 4, MIM# 612164; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:31:53.697521+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STX11 as ready",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:31:53.679911+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stx11 has been classified as Green List (High Evidence).",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:31:41.106170+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STX11: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Haemophagocytic lymphohistiocytosis, familial, 4 , MIM#603552; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STX11",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:28:56.892749+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STS as ready",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:28:56.877749+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sts has been classified as Red List (Low Evidence).",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:28:50.506393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STS were changed from Ichthyosis, X-linked to Ichthyosis, X-linked, MIM# 308100",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:28:42.450200+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1518",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: STS as Red List (low evidence)",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:28:42.437767+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1518",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sts has been classified as Red List (Low Evidence).",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:28:29.205883+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1517",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STS: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Ichthyosis, X-linked, MIM# 308100; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "STS",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:13:30.931054+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1517",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TMC1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID:11850618, PMID: 26879195; Phenotypes: Deafness, autosomal recessive 7 MIM#600974; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMC1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:05:31.826393+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1517",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TMEM43: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20301310, PMID: 34674311; Phenotypes: Arrhythmogenic right ventricular dysplasia 5 MIM#604400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TMEM43",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:05:53.228284+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1517",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STRC as ready",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:05:53.199765+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1517",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: strc has been classified as Amber List (Moderate Evidence).",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:05:47.739020+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1517",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: STRC.",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:05:41.453407+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1517",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STRC were changed from Deafness, autosomal recessive to Deafness, autosomal recessive 16, MIM# 603720",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:05:32.734226+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1516",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: STRC as Amber List (moderate evidence)",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:05:32.719584+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1516",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: strc has been classified as Amber List (Moderate Evidence).",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:05:16.861875+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1515",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STRC: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 16, MIM# 603720; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRC",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:00:25.353416+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1515",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STRA6 as ready",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:00:25.331269+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1515",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Red List (Low Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:00:18.931186+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1515",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STRA6 were changed from Microphthalmia, syndromic to Microphthalmia, syndromic 9, MIM# 601186",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:00:11.443021+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1514",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: STRA6 as Red List (low evidence)",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-12-19T12:00:11.430693+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1514",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stra6 has been classified as Red List (Low Evidence).",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:59:58.929558+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1513",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STRA6: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Microphthalmia, syndromic 9, MIM# 601186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STRA6",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:58:18.674130+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1513",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STK11 as ready",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:58:18.659547+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1513",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stk11 has been classified as Red List (Low Evidence).",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:58:13.072745+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1513",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STK11 were changed from Peutz-Jeghers syndrome to Peutz-Jeghers syndrome, MIM# 175200",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:58:03.891917+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1512",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: STK11 were set to ",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:57:54.400589+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1511",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: STK11 as Red List (low evidence)",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:57:54.387578+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1511",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stk11 has been classified as Red List (Low Evidence).",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:57:44.966021+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1510",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: STK11.",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:57:33.335002+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1510",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STK11: Rating: RED; Mode of pathogenicity: None; Publications: 20301443; Phenotypes: Peutz-Jeghers syndrome, MIM# 175200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STK11",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:45:39.994030+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1510",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STAT3 as ready",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:45:39.980157+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1510",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stat3 has been classified as Green List (High Evidence).",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:45:33.320646+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1510",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STAT3 were changed from Hyper-IgE recurrent infection syndrome to Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:45:18.004164+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1509",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STAT3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Autoimmune disease, multisystem, infantile-onset, 1 MIM# 615952; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "STAT3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:34:01.800485+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1509",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STAR as ready",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:34:01.786682+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1509",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: star has been classified as Green List (High Evidence).",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:33:57.587219+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1509",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STAR were changed from Congenital lipoid adrenal hyperplasia, MIM#201710 to Congenital lipoid adrenal hyperplasia, MIM#201710",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:33:36.154641+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1508",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STAR: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lipoid adrenal hyperplasia (MIM#201710); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAR",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:29:03.074514+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1508",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STAC3 as ready",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:29:03.059930+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1508",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stac3 has been classified as Red List (Low Evidence).",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:28:58.966698+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1508",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: STAC3 as Red List (low evidence)",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:28:58.951533+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1508",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stac3 has been classified as Red List (Low Evidence).",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:28:46.964060+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STAC3: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Myopathy, congenital, Baily-Bloch, MIM# 255995; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STAC3",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:26:42.035706+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SRP54 as ready",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:26:42.023083+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: srp54 has been classified as Green List (High Evidence).",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:26:19.617224+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SRP54: Rating: ; Mode of pathogenicity: None; Publications: 20301722; Phenotypes: Neutropaenia, severe congenital, 8, autosomal dominant, MIM# 618752; Mode of inheritance: None",
"entity_name": "SRP54",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:21:08.296105+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SRCAP as ready",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:21:08.283495+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: srcap has been classified as Red List (Low Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:21:04.385439+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1507",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SRCAP were changed from Floating-Harbor syndrome to Floating-Harbor syndrome MIM#136140; Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:20:49.914276+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1506",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SRCAP as Red List (low evidence)",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:20:49.901898+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1506",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: srcap has been classified as Red List (Low Evidence).",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:20:36.288276+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SRCAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Floating-Harbor syndrome MIM#136140, Developmental delay, hypotonia, musculoskeletal defects, and behavioral abnormalities, MIM# 619595; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SRCAP",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:16:35.534127+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SPTLC1 as ready",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:16:35.520925+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:15:53.737442+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1505",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SPTLC1 were changed from Neuropathy, hereditary sensory and autonomic, type IA to Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:15:43.891313+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1504",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SPTLC1 as Amber List (moderate evidence)",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:15:43.874075+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1504",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sptlc1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2022-12-19T11:15:30.568955+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1503",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SPTLC1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neuropathy, hereditary sensory and autonomic, type IA, MIM# 162400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SPTLC1",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:15:55.374102+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PRX as ready",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:15:55.362783+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prx has been classified as Red List (Low Evidence).",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:15:51.946460+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PRX were changed from Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, type 4F, MIM# 614895; Dejerine-Sottas disease, MIM# 145900",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:15:40.129756+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PRX as Red List (low evidence)",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:15:40.111656+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: prx has been classified as Red List (Low Evidence).",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:14:38.573479+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PRX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4F, MIM# 614895, Dejerine-Sottas disease, MIM# 145900; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PRX",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:12:15.192180+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSAP as ready",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:12:15.178934+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psap has been classified as Red List (Low Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:12:10.744522+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PSAP were changed from Metachromatic leukodystrophy to Parkinson disease; Combined SAP deficiency, MIM# 611721; Encephalopathy due to prosaposin deficiency, MONDO:0012719; Krabbe disease, atypical, MIM# 611722; Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900; Gaucher disease, atypical, MIM# 610539",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:10:43.042637+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PSAP was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:10:28.547880+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSAP as Red List (low evidence)",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:10:28.534931+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psap has been classified as Red List (Low Evidence).",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-12-18T18:10:14.761152+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PSAP: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Parkinson disease, Combined SAP deficiency, MIM# 611721, Encephalopathy due to prosaposin deficiency, MONDO:0012719, Krabbe disease, atypical, MIM# 611722, Metachromatic leukodystrophy due to SAP-b deficiency, MIM# 249900, Gaucher disease, atypical, MIM# 610539; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "PSAP",
"entity_type": "gene"
},
{
"created": "2022-12-17T14:36:40.635307+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1498",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TMEM67: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 20232449 PMID: 26092869, PMID: 27336129; Phenotypes: COACH syndrome MIM#216360, Joubert syndrome MIM#10688, Meckel syndrome MIM#607361, Nephronophthisis MIM#613550; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEM67",
"entity_type": "gene"
},
{
"created": "2022-12-17T14:24:13.784494+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1498",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TMIE: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 20301607, PMID: 33987950; Phenotypes: Deafness, autosomal recessive 6 MIM#600971; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMIE",
"entity_type": "gene"
},
{
"created": "2022-12-17T14:22:06.190652+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1498",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TMPRSS3: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 34868270; Phenotypes: deafness, autosomal recessive MIM#601072; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMPRSS3",
"entity_type": "gene"
},
{
"created": "2022-12-16T12:17:19.093944+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.6",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MPI were set to PMID: 29531722; 0980531",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-12-16T12:16:38.935299+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MPI as Green List (high evidence)",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-12-16T12:16:38.923027+11:00",
"panel_name": "Hyperinsulinism",
"panel_id": 118,
"panel_version": "1.5",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mpi has been classified as Green List (High Evidence).",
"entity_name": "MPI",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:59:30.604057+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTCH1 as ready",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:59:30.591995+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:59:27.098226+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTCH1 were changed from Nevoid basal cell carcinoma syndrome to Basal cell nevus syndrome, MIM# 109400",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:59:12.140867+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTCH1 as Amber List (moderate evidence)",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:59:12.128242+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptch1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:58:24.677971+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PTCH1.\nTag cancer tag was added to gene: PTCH1.",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:58:13.561911+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTCH1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Basal cell nevus syndrome, MIM# 109400; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTCH1",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:52:39.192512+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTEN as ready",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:52:39.181288+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Red List (Low Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:52:35.597581+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTEN were changed from Cowden disease; Bannayan-Riley-Ruvalcaba syndrome to Cowden syndrome 1, MIM# 158350; Macrocephaly/autism syndrome, MIM# 605309",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:52:19.898730+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PTEN as Red List (low evidence)",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:52:19.885672+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pten has been classified as Red List (Low Evidence).",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:52:10.974647+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag for review tag was added to gene: PTEN.\nTag cancer tag was added to gene: PTEN.",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:49:59.347484+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTEN: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cowden syndrome 1, MIM# 158350, Macrocephaly/autism syndrome, MIM# 605309; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PTEN",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:28:05.299871+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTF1A as ready",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:28:05.285616+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ptf1a has been classified as Green List (High Evidence).",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:27:59.663566+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: PTF1A.\nTag gastrointestinal tag was added to gene: PTF1A.",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:27:47.167051+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTF1A: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pancreatic agenesis 2, MIM# 615935, Pancreatic and cerebellar agenesis, MIM# 609069; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTF1A",
"entity_type": "gene"
},
{
"created": "2022-12-16T11:24:13.553901+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTH1R as ready",
"entity_name": "PTH1R",
"entity_type": "gene"
}
]
}