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{
"count": 221416,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=407",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=405",
"results": [
{
"created": "2024-08-13T14:55:24.739238+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.153",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: PMM2 were set to ",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:53:32.322818+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.152",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: RAB3GAP1 as ready",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:53:32.311719+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.152",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: rab3gap1 has been classified as Green List (High Evidence).",
"entity_name": "RAB3GAP1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:51:59.489388+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.152",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: RIN2 as ready",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:51:59.478336+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.152",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: rin2 has been classified as Green List (High Evidence).",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:51:56.113120+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.152",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: RIN2 were set to ",
"entity_name": "RIN2",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:50:52.769259+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.151",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: RNASEH2C as ready",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:50:52.758393+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.151",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: rnaseh2c has been classified as Green List (High Evidence).",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:50:45.319174+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.151",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: RNASEH2C were set to ",
"entity_name": "RNASEH2C",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:48:31.155898+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.150",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SGCG as ready",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:48:31.140474+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.150",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: sgcg has been classified as Green List (High Evidence).",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:48:27.730835+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.150",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SGCG were set to ",
"entity_name": "SGCG",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:34:19.180073+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.149",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SLC46A1 as ready",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:34:19.160840+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.149",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: slc46a1 has been classified as Green List (High Evidence).",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:34:13.387647+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.149",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SLC46A1 were set to ",
"entity_name": "SLC46A1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:33:13.237389+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SUCLG1 as ready",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:33:13.224080+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: suclg1 has been classified as Green List (High Evidence).",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:33:09.864106+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.148",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SUCLG1 were set to ",
"entity_name": "SUCLG1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:27:40.580982+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.147",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: SURF1 as ready",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:27:40.567774+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.147",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Consider most appropriate name- literature commonly refers to as Leigh syndrome but MIM 256000 doesn't have SURF1 attached to it. No overarching MONDO. Maybe MItochondrial complex IV deficiency MIM220110 is the most appropriate",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:27:40.525001+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.147",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: surf1 has been classified as Green List (High Evidence).",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:25:43.693153+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.147",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Tag for review tag was added to gene: SURF1.",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:25:32.399565+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.147",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: SURF1 were set to ",
"entity_name": "SURF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:18:59.862421+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.146",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TPK1 as ready",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:18:59.848099+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.146",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tpk1 has been classified as Green List (High Evidence).",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:18:34.217793+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.146",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TPK1 were set to ",
"entity_name": "TPK1",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:09:16.400985+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.145",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TUBGCP4 as ready",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:09:16.387304+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.145",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tubgcp4 has been classified as Green List (High Evidence).",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:09:12.571929+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.145",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TUBGCP4 were set to ",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:05:41.902159+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.144",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Marked gene: TUFM as ready",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:05:41.898069+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.144",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: PMID: 37433570 can have a milder, later onset",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:05:41.850508+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.144",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Gene: tufm has been classified as Green List (High Evidence).",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2024-08-13T14:05:36.388391+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.144",
"user_name": "Lilian Downie",
"item_type": "entity",
"text": "Publications for gene: TUFM were set to ",
"entity_name": "TUFM",
"entity_type": "gene"
},
{
"created": "2024-08-13T13:52:50.538163+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.143",
"user_name": "Krithika Murali",
"item_type": "entity",
"text": "gene: CSMD1 was added\ngene: CSMD1 was added to Prepair 1000+. Sources: Literature\nMode of inheritance for gene: CSMD1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSMD1 were set to PMID:38816421\nPhenotypes for gene: CSMD1 were set to complex neurodevelopmental disorder MONDO:0100038\nReview for gene: CSMD1 was set to GREEN\nAdded comment: PMID 38816421 Werren et al 2024 report 8 individuals from 6 families with biallelic missense CSMD1 variants identified through exome sequencing and subsequent gene-sharing efforts. Shared phenotypic features included: GDD, ID, microcephaly and polymicrogyria. Other features included dysmorphism, IUGR, hypotonia, arthrogryposis, seizures, opthalmological anomalies and other brain white matter anomalies Heterozygous parents were unaffected.\r\n\r\nLoss of function is the postulated mechanism based on experimental data involving early-stage forebrain organoids differentiated from CSMD1 knockout human embryonic stem cells. ClinGen haploinsufficiency score of 1, however, this curation was last reviewed in 2018. This gene is within the scope of review for the ClinGen Autism and ID GCEP. \nSources: Literature",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-13T13:38:54.722001+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: ATP8B1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Cholestasis, progressive familial intrahepatic 1, 211600 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ATP8B1",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:20:53.854597+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel status changed from internal to public\nPanel types changed to Victorian Clinical Genetics Services; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-08-13T12:06:06.449250+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: YY1AP1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Grange syndrome, MIM# 602531; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "YY1AP1",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:05:57.744405+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6122",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: CSNK1G1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33009664; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:05:40.459958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1953",
"user_name": "Rylee Peters",
"item_type": "entity",
"text": "reviewed gene: CSNK1G1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 33009664; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:03:51.988641+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TGFBR1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Loeys-Dietz syndrome 1, MIM# 609192; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "TGFBR1",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:02:31.142746+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLK as ready",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:02:31.120012+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk has been classified as Amber List (Moderate Evidence).",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:02:18.844437+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYLK: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 7 MIM#613780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYLK",
"entity_type": "gene"
},
{
"created": "2024-08-13T12:01:24.514294+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LOX: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Aortic aneurysm, familial thoracic 10 MIM#617168; Mode of inheritance: None",
"entity_name": "LOX",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:59:57.991895+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMX1B as Red List (low evidence)",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:59:57.975664+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Red List (Low Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:59:47.492246+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome MIM#161200; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:58:41.123078+10:00",
"panel_name": "Spontaneous coronary artery dissection",
"panel_id": 4323,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: FLNA: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: periventricular heterotopia 1 MIM#300049; Mode of inheritance: None",
"entity_name": "FLNA",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:53:32.730029+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REXO2 as ready",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:53:32.720353+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rexo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:53:17.682452+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REXO2 as Amber List (moderate evidence)",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:53:17.655330+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1953",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rexo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:52:54.928223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1952",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: REXO2 was added\ngene: REXO2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: REXO2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: REXO2 were set to 39107301\nPhenotypes for gene: REXO2 were set to Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related\nReview for gene: REXO2 was set to AMBER\nAdded comment: Female infant of Chinese ancestry, presented at 2 years of age with whole-body rash with histological features of hyperkeratosis, parakeratosis and acanthosis with elongated rete ridges, focal liquefaction and degeneration of the basal layers of epidermis, vascular proliferation in the superficial dermis, infiltration of lymphocytes and eosinophils around small blood vessels in the dermis. She has recurrent infections (frequent and severe pneumonia). Extensive functional validation demonstrating heterozygous de novo mutation (p.T132A) impairs REXO2’s ability to cleave RNA leading to activation of the dsRNA sensor MDA5 leading to a Type 1 interferonopathy. \nSources: Literature",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:50:47.241606+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: REXO2 as ready",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:50:47.225098+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rexo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:50:44.426247+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: REXO2 were changed from type 1 interferonopathy to Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:50:02.035795+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: REXO2 as Amber List (moderate evidence)",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:50:02.011264+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rexo2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:48:50.461325+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: REXO2: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Type 1 interferonopathy of childhood, MONDO:0957408, REXO2-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "REXO2",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:46:03.806215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEFF1 as ready",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:46:03.796468+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmeff1 has been classified as Green List (High Evidence).",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:45:51.196033+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEFF1 as Green List (high evidence)",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:45:51.186363+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1951",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmeff1 has been classified as Green List (High Evidence).",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:45:28.441796+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1950",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TMEFF1 was added\ngene: TMEFF1 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: TMEFF1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMEFF1 were set to 39048830\nPhenotypes for gene: TMEFF1 were set to Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related; HSV encephalitis\nReview for gene: TMEFF1 was set to GREEN\nAdded comment: 2 unrelated patients with severe HSV encephalitis. Functional validation showing that human TMEFF1 encodes a type I IFN-independent, cortical neuron- and CNS-intrinsic restriction factor that is effective against HSV-1 that operates by impairing the entry of HSV-1 into cortical neurons. \nSources: Literature",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:43:27.385821+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMEFF1 as ready",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:43:27.362833+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmeff1 has been classified as Green List (High Evidence).",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:42:06.065529+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: ASNS: Rating: GREEN; Mode of pathogenicity: None; Publications: 24139043, 27469131, 29375865, 28776279; Phenotypes: Asparagine synthetase deficiency, 615574; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ASNS",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:41:49.207187+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.128",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TMEFF1 were changed from hsv encephalitis to Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related; HSV encephalitis",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:40:58.159071+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMEFF1 as Green List (high evidence)",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:40:58.146458+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmeff1 has been classified as Green List (High Evidence).",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:39:48.375172+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMEFF1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hereditary susceptibility to infections, MONDO:0015979, TMEFF1-related; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMEFF1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:37:20.484784+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PROS1 as ready",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:37:20.469544+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pros1 has been classified as Green List (High Evidence).",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:37:12.618032+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PROS1 as Green List (high evidence)",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:37:12.594516+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pros1 has been classified as Green List (High Evidence).",
"entity_name": "PROS1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:36:15.236850+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPINC1 as ready",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:36:15.219698+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinc1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:36:03.074063+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SERPINC1: Changed mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:35:54.321997+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERPINC1 as Green List (high evidence)",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:35:54.305893+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpinc1 has been classified as Green List (High Evidence).",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:35:23.614048+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPINC1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Thrombophilia 7 due to antithrombin III deficiency #613118; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPINC1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:34:15.996704+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SERPIND1 as ready",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:34:15.984600+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpind1 has been classified as Green List (High Evidence).",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:34:12.920908+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SERPIND1 were changed from HEPARIN COFACTOR II DEFICIENCY #612356 to heparin cofactor 2 deficiency, MONDO:0012876; Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:33:36.677519+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SERPIND1 were set to PMID: 12421148; PMID: 35592395; PMID: 2647747; PMID: 11204559; PMID: 10494755",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:32:58.479167+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SERPIND1 as Green List (high evidence)",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:32:58.467340+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: serpind1 has been classified as Green List (High Evidence).",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:32:18.857839+10:00",
"panel_name": "Bleeding and Platelet Disorders",
"panel_id": 54,
"panel_version": "1.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SERPIND1: Rating: GREEN; Mode of pathogenicity: None; Publications: 8902986, 15337701, 31064749, 11204559, 8562924, 29296762, 2863444, 2647747, 17549254, 11805133; Phenotypes: heparin cofactor 2 deficiency, MONDO:0012876, Thrombophilia 10 due to heparin cofactor II deficiency, MIM#612356; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "SERPIND1",
"entity_type": "gene"
},
{
"created": "2024-08-13T11:10:05.310806+10:00",
"panel_name": "Prepair 1000+",
"panel_id": 3861,
"panel_version": "1.142",
"user_name": "Cassandra Muller",
"item_type": "entity",
"text": "reviewed gene: ARL13B: Rating: GREEN; Mode of pathogenicity: None; Publications: 38219074, 18674751, 25138100, 26092869, 27894351, 29255182; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARL13B",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:25:08.706089+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:25:08.695428+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:25:01.496053+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:25:01.483855+10:00",
"panel_name": "Fetal anomalies",
"panel_id": 3763,
"panel_version": "1.265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:24:44.231529+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:24:44.221578+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:24:28.130305+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:24:28.116019+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.310",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:24:05.023873+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSMD1 as ready",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:24:05.013275+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csmd1 has been classified as Green List (High Evidence).",
"entity_name": "CSMD1",
"entity_type": "gene"
},
{
"created": "2024-08-12T20:13:55.373509+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.6122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSMD1 as Green List (high evidence)",
"entity_name": "CSMD1",
"entity_type": "gene"
}
]
}