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{
"count": 220257,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1413",
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"results": [
{
"created": "2021-02-12T15:46:01.627600+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fstl5 has been classified as Red List (Low Evidence).",
"entity_name": "FSTL5",
"entity_type": "gene"
},
{
"created": "2021-02-12T15:45:49.456654+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: FSTL5 as Red List (low evidence)",
"entity_name": "FSTL5",
"entity_type": "gene"
},
{
"created": "2021-02-12T15:45:49.446577+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: fstl5 has been classified as Red List (Low Evidence).",
"entity_name": "FSTL5",
"entity_type": "gene"
},
{
"created": "2021-02-12T15:44:52.247883+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NCOA3 as ready",
"entity_name": "NCOA3",
"entity_type": "gene"
},
{
"created": "2021-02-12T15:44:52.236720+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncoa3 has been classified as Red List (Low Evidence).",
"entity_name": "NCOA3",
"entity_type": "gene"
},
{
"created": "2021-02-12T15:43:32.438932+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NCOA3 as Red List (low evidence)",
"entity_name": "NCOA3",
"entity_type": "gene"
},
{
"created": "2021-02-12T15:43:32.430798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ncoa3 has been classified as Red List (Low Evidence).",
"entity_name": "NCOA3",
"entity_type": "gene"
},
{
"created": "2021-02-12T09:11:16.744987+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2021-02-12T09:10:40.452000+11:00",
"panel_name": "Combined Immunodeficiency",
"panel_id": 223,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2021-02-12T09:10:12.112960+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6321",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: FCHO1 were changed from Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis to Immunodeficiency 76, MIM# 619164; Combined immunodeficiency; T cells: low, poor proliferation; B cells: normal number; Recurrent infections (viral, mycobacteria, bacterial, fungal); lymphoproliferation; Failure to thrive; Increased activation-induced T-cell death; Defective clathrin-mediated endocytosis",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2021-02-12T09:09:23.552492+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: FCHO1: Changed phenotypes: Immunodeficiency 76, MIM# 619164, Combined immunodeficiency, T cells: low, poor proliferation, B cells: normal number, Recurrent infections (viral, mycobacteria, bacterial, fungal), lymphoproliferation, Failure to thrive, Increased activation-induced T-cell death, Defective clathrin-mediated endocytosis",
"entity_name": "FCHO1",
"entity_type": "gene"
},
{
"created": "2021-02-12T06:12:17.927962+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6320",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: FSTL5 was added\ngene: FSTL5 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: FSTL5 was set to Unknown\nPublications for gene: FSTL5 were set to 33105483\nPhenotypes for gene: FSTL5 were set to isolated club-foot; iTEV; Talipes equinovarus\nReview for gene: FSTL5 was set to RED\nAdded comment: PMID: 33105483 - Khanshour et al 20201 - GWAS study of isolated Talipes equinovarus (clubfoot, iTEV) identified an associated locus within FSTL5. They show that Fstl5 is expressed in the embryonic hindlimb in bats, chicks and mice. However, Fstl5 was expressed more highly in neural tissues in mice, and rats lacking Fstl5 showed no gross developmental malformations. Conditional overexpression of Fstl5 in osteochondroprogenitors resulted in sexually dimorphic differences in skeletal development in mice. \nSources: Literature",
"entity_name": "FSTL5",
"entity_type": "gene"
},
{
"created": "2021-02-12T05:56:57.346264+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6320",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: NCOA3 was added\ngene: NCOA3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NCOA3 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NCOA3 were set to 33326993\nPhenotypes for gene: NCOA3 were set to non-syndromic hearing loss\nReview for gene: NCOA3 was set to RED\nAdded comment: PMID: 33326993 - Salazar da Silva et al 2020 - report a 5 generation Brazilian family with 15 individuals with non-syndromic, bilateral and progressive hearing loss. Using linkage analysis and then exome sequencing they identified a heterozygous variant in NCOA3 (NM_181659, c.2810C > G; p.Ser937Cys) that was found in the 7 analysed affected individuals. It was also found in 4 unaffected individuals but they are within the range of onset of hearing loss observed in the family. Expression of nco3 was found in the inner ear of mice and zebrafish. ncoa3-/- zebrafish showed subtle alterations in cartilage, mineral density and abnormal adult swimming behaviour, which may suggest the mechanism of pathogenicity. \nSources: Literature",
"entity_name": "NCOA3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:57:56.387943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFHR3 as ready",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:57:56.374265+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfhr3 has been classified as Green List (High Evidence).",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:57:41.692633+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6320",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:57:14.389615+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6319",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFHR3 were set to ",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:56:49.459121+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:56:28.687795+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:55:38.096137+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFHR1 as ready",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:55:38.080570+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfhr1 has been classified as Green List (High Evidence).",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:55:26.218586+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:55:07.818054+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6316",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFHR1 were set to ",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:54:44.495074+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6315",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:54:24.980045+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:53:26.899523+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFHR3 as ready",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:53:26.888747+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfhr3 has been classified as Green List (High Evidence).",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:53:24.302684+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR3 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:52:55.080938+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFHR3 were set to ",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:52:25.985306+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR3 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:52:17.093696+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CFHR3.",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:51:43.733577+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFHR3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:50:34.077562+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFHR1 as ready",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:50:34.069842+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfhr1 has been classified as Green List (High Evidence).",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:50:30.909395+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CFHR1 were changed from to {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:49:57.219688+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: CFHR1.",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:49:02.125655+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CFHR1 were set to ",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:48:34.737595+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CFHR1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:47:57.734181+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.32",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CFHR1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T20:46:45.998473+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SMAD9 were set to ",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2021-02-11T12:36:28.729055+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6314",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T12:35:35.222994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6314",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T12:34:35.385554+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.32",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CFHR3: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID:32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR3",
"entity_type": "gene"
},
{
"created": "2021-02-11T12:32:39.539110+11:00",
"panel_name": "Atypical Haemolytic Uraemic Syndrome_MPGN",
"panel_id": 211,
"panel_version": "0.32",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CFHR1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 32424742; Phenotypes: {Hemolytic uremic syndrome, atypical, susceptibility to} MIM#235400, {Macular degeneration, age-related, reduced risk of} MIM#603075; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "CFHR1",
"entity_type": "gene"
},
{
"created": "2021-02-11T12:08:29.572615+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.0",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "edited their review of gene: SMAD9: Added comment: Alt gene name SMAD8\r\ngnomAD: pLI = 0. Most frequent NMD-pred PTC has 6 hets in the population, currently a VUS in ClinVar.\r\n\r\nPMID: 29844917 - NMD PTC in a 14 year old patient with brain arteriovenous malformation, resulted in reduced phosphorylation of downstream SMAD4. Zebrafish knockdown model showed abnormal cerebral artery-to-vein connection.\r\n\r\nPMID: 21920918 - NMD PTC in a patient with heritable pulmonary arterial hypertension. Functional studies on patient cells showed no significant effect in inducing miR-21, miR-27a or miR-100. ID1 (no OMIM) expression was significantly increased.\r\n\r\nPMID: 19211612 - NMD PTC in a patient, paternally inherited (also affected with pulmonary arterial hypertension). Functional studies show the protein could not interact with SMAD4, and reduced transcriptional activation activity.; Changed rating: GREEN; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2021-02-11T12:08:11.777046+11:00",
"panel_name": "Pulmonary Arterial Hypertension",
"panel_id": 3095,
"panel_version": "1.0",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SMAD9: Rating: ; Mode of pathogenicity: None; Publications: PMID: 29844917, 21920918, 19211612; Phenotypes: Pulmonary hypertension, primary, 2 MIM#615342; Mode of inheritance: None",
"entity_name": "SMAD9",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:55:42.941604+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX4 were changed from to Frontonasal dysplasia 2, MIM# 613451; FND2 with alopecia",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:55:19.327478+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.20",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALX4 were set to ",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:54:49.695107+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.19",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ALX4 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:54:20.590992+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.18",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 2, MIM# 613451; Mode of inheritance: None",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:53:23.241283+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX3 were changed from FND1; Frontorhiny; FRONTONASAL DYSPLASIA 1 to Frontonasal dysplasia 1, MIM# 136760; Frontorhiny",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:52:58.587745+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 1, MIM# 136760; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:52:02.813737+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.97",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALX1 were changed from ?Frontonasal dysplasia 3, 613456 to Frontonasal dysplasia 3, MIM#613456; severe facial clefting",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:51:38.083565+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Frontonasal dysplasia 3, MIM# 613456; Mode of inheritance: None",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:50:54.855882+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: USP9X as ready",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-02-10T15:50:54.845728+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.96",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: usp9x has been classified as Green List (High Evidence).",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:59:41.207960+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.18",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: ALX4 as ready",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:59:41.199429+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.18",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:59:37.012235+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.18",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ALX4 as Amber List (moderate evidence)",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:59:37.004183+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.18",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx4 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:59:02.289915+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: ALX4: Rating: AMBER; Mode of pathogenicity: None; Publications: 24668755, 22140057, 19692347; Phenotypes: FRONTONASAL DYSPLASIA 2, FND2 with alopecia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX4",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:56:53.765512+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ALX3 as Amber List (moderate evidence)",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:56:53.755731+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:56:34.470417+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ALX3 as Amber List (moderate evidence)",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:56:34.462296+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.17",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:56:27.396091+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: ALX3 as ready",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:56:27.384826+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx3 has been classified as Green List (High Evidence).",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:56:00.617320+11:00",
"panel_name": "Pierre Robin Sequence",
"panel_id": 160,
"panel_version": "0.16",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: frontorhiny; Mode of inheritance: None",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:53:45.290692+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.96",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Classified gene: ALX1 as Green List (high evidence)",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:53:45.285584+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.96",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Mediocre reviewer",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T14:53:45.263250+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.96",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx1 has been classified as Green List (High Evidence).",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T11:52:05.755879+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.95",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: ALX3 as ready",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T11:52:05.748350+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.95",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T11:51:40.141528+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.95",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: ALX3: Rating: AMBER; Mode of pathogenicity: None; Publications: 19409524, 29215096, 31914496; Phenotypes: Frontorhiny; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX3",
"entity_type": "gene"
},
{
"created": "2021-02-10T11:43:59.591829+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.95",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Marked gene: ALX1 as ready",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T11:43:59.580739+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.95",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "Gene: alx1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T11:43:42.467362+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.95",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: ALX1: Rating: GREEN; Mode of pathogenicity: None; Publications: 31914496, 20451171, 24592072; Phenotypes: Frontonasal dysplasia, severe facial clefting; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ALX1",
"entity_type": "gene"
},
{
"created": "2021-02-10T11:08:21.258656+11:00",
"panel_name": "Clefting disorders",
"panel_id": 3368,
"panel_version": "0.95",
"user_name": "Tiong Tan",
"item_type": "entity",
"text": "reviewed gene: USP9X: Rating: GREEN; Mode of pathogenicity: None; Publications: 26833328; Phenotypes: 300968 MENTAL RETARDATION, X-LINKED 99, SYNDROMIC, FEMALE-RESTRICTED; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)",
"entity_name": "USP9X",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:17:00.769061+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6314",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD5 were changed from X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:16:37.852949+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6313",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD5 were set to 33131077",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:16:18.624451+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTUD5 as Green List (high evidence)",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:16:18.616141+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6312",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud5 has been classified as Green List (High Evidence).",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:15:54.508598+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6311",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: OTUD5: Added comment: PMID 33523931: Another 10 individuals from 7 families reported, promote to Green. X-linked multiple congenital anomalies-neurodevelopmental syndrome (MCAND) is an X-linked recessive congenital multisystemic disorder characterized by poor growth, global developmental delay with impaired intellectual development, and variable abnormalities of the cardiac, skeletal, and genitourinary systems. Most affected individuals also have hypotonia and dysmorphic craniofacial features. Brain imaging typically shows enlarged ventricles and thin corpus callosum; some have microcephaly, whereas others have hydrocephalus. The severity of the disorder is highly variable, ranging from death in early infancy to survival into the second or third decade.; Changed rating: GREEN; Changed publications: 33131077, 33523931; Changed phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:15:16.921076+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3439",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OTUD5 were changed from X-linked severe neurodevelopmental delay, hydrocephalus, and early lethality to Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:13:57.069034+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3438",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OTUD5 were set to PMID: 33131077",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:13:23.626472+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OTUD5 as Green List (high evidence)",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:13:23.616024+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3437",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: otud5 has been classified as Green List (High Evidence).",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-10T09:12:48.379845+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3436",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OTUD5: Rating: GREEN; Mode of pathogenicity: None; Publications: 33523931; Phenotypes: Multiple congenital anomalies-neurodevelopmental syndrome, X-linked, MIM# 301056; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OTUD5",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:40:36.505970+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: SCARB1 as ready",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:40:36.494573+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:40:29.702452+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: SCARB1 were changed from to High density lipoprotein cholesterol level QTL6 MIM#610762; Scavenger receptor class B type I deficiency; Inherited hypolipidaemias",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:40:13.861545+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: SCARB1 were set to ",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:39:58.785354+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: SCARB1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:39:41.348217+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SCARB1 as Amber List (moderate evidence)",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:39:41.343225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Benign clinical phenotype",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:39:41.319703+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6308",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scarb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:39:14.946945+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: SCARB1: Rating: ; Mode of pathogenicity: None; Publications: 21226579, 30720493, 21480869, 26965621, 27604308; Phenotypes: High density lipoprotein cholesterol level QTL6 MIM#610762, Scavenger receptor class B type I deficiency, Inherited hypolipidaemias; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SCARB1",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:37:57.945029+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CETP as ready",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:37:57.934322+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cetp has been classified as Amber List (Moderate Evidence).",
"entity_name": "CETP",
"entity_type": "gene"
},
{
"created": "2021-02-09T13:37:18.702332+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.6307",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CETP were changed from to Hyperalphalipoproteinemia MIM#143470; Disorders of high density lipoprotein metabolism",
"entity_name": "CETP",
"entity_type": "gene"
}
]
}