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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=661",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=659",
"results": [
{
"created": "2022-12-22T09:26:20.763404+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDK5 as Amber List (moderate evidence)",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:26:20.751333+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.13",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdk5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:25:49.463127+11:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "1.12",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CDK5: Added comment: Upgraded to Amber following GenCC discrepancy resolution: single family with four affected individuals but extensive supportive experimental evidence including mouse models.; Changed rating: AMBER; Changed publications: 25560765, 32273484, 32097629, 28854363, 7490100; Changed phenotypes: Lissencephaly 7 with cerebellar hypoplasia, MIM# 616342",
"entity_name": "CDK5",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:14:43.201222+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MBD4 as ready",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:14:43.185327+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbd4 has been classified as Green List (High Evidence).",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:13:16.437879+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MBD4 as Green List (high evidence)",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-12-22T09:13:16.424744+11:00",
"panel_name": "Bone Marrow Failure",
"panel_id": 56,
"panel_version": "1.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mbd4 has been classified as Green List (High Evidence).",
"entity_name": "MBD4",
"entity_type": "gene"
},
{
"created": "2022-12-21T15:52:22.148482+11:00",
"panel_name": "Monogenic Diabetes",
"panel_id": 3093,
"panel_version": "0.32",
"user_name": "Teresa Zhao",
"item_type": "entity",
"text": "gene: ONECUT1 was added\ngene: ONECUT1 was added to Monogenic Diabetes. Sources: Literature\nMode of inheritance for gene: ONECUT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ONECUT1 were set to PMID: 34663987\nPhenotypes for gene: ONECUT1 were set to Syndromic diabetes\nReview for gene: ONECUT1 was set to AMBER\nAdded comment: Two homozygous ONECUT1 variants (p.E231* and p.E231D) identified in two unrelated patients, respectively, with intrauterine growth retardation, pancreas hypoplasia and gallbladder agenesis/hypoplasia, and early-onset diabetes. \nSources: Literature",
"entity_name": "ONECUT1",
"entity_type": "gene"
},
{
"created": "2022-12-20T23:32:21.977898+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.563",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "gene: SLC26A6 was added\ngene: SLC26A6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: SLC26A6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SLC26A6 were set to 35115415; 21170874; 32660969\nPhenotypes for gene: SLC26A6 were set to Enteric hyperoxaluria and nephrolithiasis\nAdded comment: Cornière et al. 2022 (PMID: 35115415) identified a single family with a heterozygous missense VUS (c.1519C>T/p.R507W) in the SLC26A6 gene. However, the variant was found in 5 out of 280 674 alleles reported in gnomAD (Europeans and South Asians). In vitro studies showed that the variant affects both SLC26A6 transport activity and membrane surface expression, in turn reducing Cl− dependant oxalate transport. Cotransfection studies indicated a dominant-negative effect on WT. Slc26a6 null mice similarly displayed hyperoxalemia and hyperoxaluria which were caused by defective intestinal back-secretion of dietary oxalate (PMID: 21170874; 32660969)\r\n\r\nSLC26A6 is currently not associated with any human phenotype in OMIM or G2P. \nSources: Literature",
"entity_name": "SLC26A6",
"entity_type": "gene"
},
{
"created": "2022-12-20T16:49:48.144053+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TCOF1 as ready",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-12-20T16:49:48.132736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tcof1 has been classified as Red List (Low Evidence).",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-12-20T16:49:39.426884+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1545",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TCOF1 were changed from Treacher Collins syndrome 1 to Treacher Collins syndrome 1, MIM# 154500",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-12-20T16:49:23.989209+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1544",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TCOF1 as Red List (low evidence)",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-12-20T16:49:23.975189+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1544",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tcof1 has been classified as Red List (Low Evidence).",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-12-20T16:47:35.111770+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1543",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TCOF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Treacher Collins syndrome 1, MIM# 154500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TCOF1",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:45:38.982139+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1543",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TCN2 as ready",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:45:38.970472+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1543",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tcn2 has been classified as Green List (High Evidence).",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:45:34.954922+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1543",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TCN2 were changed from Transcobalamin II deficiency, 275350 to Transcobalamin II deficiency MIM# 275350",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:45:01.359027+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TCN2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Transcobalamin II deficiency MIM# 275350; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCN2",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:00:00.706250+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TCIRG1 as ready",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-12-20T15:00:00.673434+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tcirg1 has been classified as Green List (High Evidence).",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-12-20T14:59:54.886663+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1542",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TCIRG1 were changed from Osteopetrosis, infantile malignant to Osteopetrosis, autosomal recessive 1, MIM# 259700",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-12-20T14:54:44.988573+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TCIRG1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Osteopetrosis, autosomal recessive 1, MIM# 259700; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TCIRG1",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:55:59.548660+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TCF3 as ready",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:55:59.536622+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tcf3 has been classified as Green List (High Evidence).",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:55:55.453813+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1541",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TCF3 were changed from Agammaglobulinaemia 8, autosomal dominant, MIM# 616941 to Agammaglobulinaemia 8, autosomal dominant, MIM# 616941; Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:55:46.408868+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1540",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Mode of inheritance for gene: TCF3 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:55:34.341203+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1539",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TCF3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Agammaglobulinaemia 8, autosomal dominant, MIM# 616941, Agammaglobulinaemia 8B, autosomal recessive, MIM# 619824; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "TCF3",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:50:24.455605+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1539",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TBX5 as ready",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:50:24.440934+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1539",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbx5 has been classified as Red List (Low Evidence).",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:50:20.583991+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1539",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TBX5 were changed from Holt-Oram syndrome to Holt-Oram syndrome, MIM# 142900",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:50:09.909949+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1538",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TBX5 as Red List (low evidence)",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:50:09.897464+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1538",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbx5 has been classified as Red List (Low Evidence).",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:49:55.697648+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1537",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TBX5: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Holt-Oram syndrome, MIM# 142900; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX5",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:42:54.058158+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1537",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TBX19 as ready",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:42:54.046362+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1537",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbx19 has been classified as Green List (High Evidence).",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:42:50.676323+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1537",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: TBX19 were set to ",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:42:42.631577+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1536",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag treatable tag was added to gene: TBX19.\nTag endocrine tag was added to gene: TBX19.",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:42:26.756995+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1536",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TBX19: Rating: GREEN; Mode of pathogenicity: None; Publications: 30086867; Phenotypes: Adrenocorticotropic hormone deficiency, 201400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBX19",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:37:55.645525+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1536",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TBX1 as ready",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:37:55.621192+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1536",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:37:51.564562+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1536",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TBX1 were changed from DiGeorge syndrome to DiGeorge syndrome MIM# 188400; Velocardiofacial syndrome MIM# 192430",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:37:42.902006+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1535",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TBX1 as Amber List (moderate evidence)",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:37:42.889229+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1535",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:37:36.779279+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1534",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: TBX1.\nTag cardiac tag was added to gene: TBX1.\nTag immunological tag was added to gene: TBX1.",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-12-20T13:37:05.813330+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1534",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: DiGeorge syndrome MIM# 188400, Velocardiofacial syndrome MIM# 192430; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:23:37.863004+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1534",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TBC1D24 as ready",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:23:37.843271+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1534",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Red List (Low Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:23:31.872736+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1534",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: TBC1D24 were changed from Deafness, onychodystrophy, osteodystrophy, mental retardation, and seizures syndrome to DOORS syndrome MIM#220500",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:23:19.855186+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1533",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TBC1D24 as Red List (low evidence)",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:23:19.839900+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1533",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: tbc1d24 has been classified as Red List (Low Evidence).",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:22:40.284824+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1532",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TBC1D24: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: DOORS syndrome MIM#220500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TBC1D24",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:19:50.489484+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1532",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: TAZ as ready",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:19:50.477330+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1532",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: taz has been classified as Red List (Low Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:19:45.345529+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1532",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Publications for gene: TAZ were set to ",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:18:57.339025+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1531",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:18:41.854454+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1531",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:18:30.799120+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1531",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: TAZ as Red List (low evidence)",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:18:30.786532+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1531",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: taz has been classified as Red List (Low Evidence).",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T12:18:17.903127+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1530",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: TAZ: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Barth syndrome, MIM# 302060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TAZ",
"entity_type": "gene"
},
{
"created": "2022-12-20T10:08:51.413774+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.563",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDFY3 were changed from Microcephaly 18, primary, autosomal dominant, MIM#617520 to Microcephaly 18, primary, autosomal dominant, MIM#617520; Neurodevelopmental disorder with macrocephaly",
"entity_name": "WDFY3",
"entity_type": "gene"
},
{
"created": "2022-12-19T15:06:24.949405+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1530",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TIMM8A: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 20301395; Phenotypes: Mohr-Tranebjaerg syndrome MIM#304700; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "TIMM8A",
"entity_type": "gene"
},
{
"created": "2022-12-19T15:00:47.361908+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1530",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "reviewed gene: TK2: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 23230576, PMID: 29602790, PMID: 31125140; Phenotypes: Mitochondrial DNA depletion syndrome 2 (myopathic type) MIM#609560; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TK2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:53:49.355028+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1530",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:53:49.341671+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1530",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Red List (Low Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:53:42.729908+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1530",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SURF1 were changed from Leigh syndrome, due to COX deficiency to Charcot-Marie-Tooth disease, type 4K MIM#616684; Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:53:31.308732+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1529",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SURF1 as Red List (low evidence)",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:53:31.296636+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1529",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Red List (Low Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:53:16.531223+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1528",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SURF1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Charcot-Marie-Tooth disease, type 4K MIM#616684, Mitochondrial complex IV deficiency, nuclear type 1 MIM#220110; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:51:22.967699+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1528",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SUOX as ready",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:51:22.954714+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1528",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: suox has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:51:18.405867+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1528",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SUOX were changed from Sulphite oxidase deficiency to Sulfite oxidase deficiency, MIM# 272300",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:51:06.078012+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1527",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SUOX.\nTag metabolic tag was added to gene: SUOX.",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:50:56.156228+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1527",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SUOX as Amber List (moderate evidence)",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:50:56.143907+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1527",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: suox has been classified as Amber List (Moderate Evidence).",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:50:41.933807+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1526",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SUOX: Rating: AMBER; Mode of pathogenicity: None; Publications: 28933809; Phenotypes: Sulfite oxidase deficiency, MIM# 272300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUOX",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:44:11.211527+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1526",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:44:11.193806+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1526",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Red List (Low Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:44:00.348911+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1526",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLG1 were changed from Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:43:52.454940+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1525",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SUCLG1 as Red List (low evidence)",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:43:52.441525+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1525",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Red List (Low Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:43:39.930734+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SUCLG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 9 (encephalomyopathic type with methylmalonic aciduria) MIM#245400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:40:06.976518+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: SUCLA2 as ready",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:40:06.942726+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Red List (Low Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:40:01.421755+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1524",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: SUCLA2 were changed from Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with methylmalonic aciduria) to Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:39:50.085873+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1523",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: SUCLA2 as Red List (low evidence)",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:39:50.074101+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1523",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: sucla2 has been classified as Red List (Low Evidence).",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:39:30.755734+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1522",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: SUCLA2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial DNA depletion syndrome 5 (encephalomyopathic with or without methylmalonic aciduria), MIM# 612073, MONDO:0012791; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SUCLA2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:37:23.520998+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1522",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STXBP2 as ready",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:37:23.509022+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1522",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stxbp2 has been classified as Green List (High Evidence).",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:37:17.525117+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1522",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP2 were changed from Haemophagocytic lymphohistiocytosis, MIM#613101 to Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:37:00.316060+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1521",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "changed review comment from: Established gene-disease association.\r\n\r\nChildhood onset, multi-system disorder\r\n\r\nTreatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant\r\n\r\nNon-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity; to: Established gene-disease association.\r\n\r\nChildhood onset, hyperinflammatory disorder\r\n\r\nTreatment: Emapalumab ,Hematopoietic stem cell transplantation (HSCT) - bone marrow transplant\r\n\r\nNon-genetic confirmatory test: natural killer cell activity, cytotoxic T lymphocyte activity",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:36:31.639326+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1521",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STXBP2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hemophagocytic lymphohistiocytosis, familial, 5, MIM# 613101; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "STXBP2",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:34:23.836938+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1521",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: STXBP1 as ready",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:34:23.824036+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1521",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Red List (Low Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:34:18.972883+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1521",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Phenotypes for gene: STXBP1 were changed from Epileptic encephalopathy, early infantile to Developmental and epileptic encephalopathy 4, MIM# 612164",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:34:07.411433+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1520",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Classified gene: STXBP1 as Red List (low evidence)",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:34:07.395247+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1520",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: stxbp1 has been classified as Red List (Low Evidence).",
"entity_name": "STXBP1",
"entity_type": "gene"
},
{
"created": "2022-12-19T14:33:52.669035+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "reviewed gene: STXBP1: Rating: RED; 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": "2022-12-19T14:33:30.515761+11:00",
"panel_name": "gNBS",
"panel_id": 3931,
"panel_version": "0.1519",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "STXBP1",
"entity_type": "gene"
}
]
}