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{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=335",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=333",
"results": [
{
"created": "2024-12-04T14:53:56.512429+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: WDR45: Rating: GREEN; Mode of pathogenicity: None; Publications: 23447832, 23176820; Phenotypes: X-linked complex neurodevelopmental disorder MONDO:0100148; 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": "WDR45",
"entity_type": "gene"
},
{
"created": "2024-12-04T14:35:09.160162+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PLA2G6: Rating: GREEN; Mode of pathogenicity: None; Publications: 20301718, 24745848, 27516098; Phenotypes: PLA2G6-associated neurodegeneration MONDO:0017998; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PLA2G6",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:59:47.552858+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: PANK2: Rating: GREEN; Mode of pathogenicity: None; Publications: 15911822, 22127788; Phenotypes: Neurodegeneration with brain iron accumulation 1 MIM#234200, pantothenate kinase-associated neurodegeneration MONDO:0009319; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PANK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:37:18.168691+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "1.0",
"user_name": "Bryony Thompson",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2024-12-04T13:35:38.122869+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ROCK2 as ready",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:35:38.076432+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rock2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:26:27.201525+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ROCK2 as Amber List (moderate evidence)",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:26:27.186802+11:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.421",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rock2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:26:10.283920+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FTL: Rating: GREEN; Mode of pathogenicity: None; Publications: 11438811, 12746423, 15099026; Phenotypes: Neurodegeneration with brain iron accumulation 3 MIIM#606159; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "FTL",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:25:45.582714+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ROCK2 as ready",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:25:45.558802+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rock2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:25:02.638194+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ROCK2 as Amber List (moderate evidence)",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:25:02.614166+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2166",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rock2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ROCK2",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:23:02.696831+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PCSK9 as ready",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:23:02.667035+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: pcsk9 has been classified as Green List (High Evidence).",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:22:32.285849+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PPP5C as ready",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:22:32.266994+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppp5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:22:09.587348+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PPP5C as Amber List (moderate evidence)",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:22:09.571455+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "1.4",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppp5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:21:02.765436+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: PPP5C as ready",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:21:02.741584+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppp5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:20:46.181976+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: PPP5C as Amber List (moderate evidence)",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:20:46.163858+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2165",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ppp5c has been classified as Amber List (Moderate Evidence).",
"entity_name": "PPP5C",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:19:56.850142+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.46",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: PCSK9 were changed from to hypercholesterolemia, autosomal dominant, 3 MONDO:0011369",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:19:27.889219+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.45",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: PCSK9 were set to ",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:18:52.005523+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.44",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: PCSK9 was changed from to Other",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:16:49.799373+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.43",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: PCSK9 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PCSK9",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:15:52.970872+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: LIPA as ready",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:15:52.955525+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: lipa has been classified as Green List (High Evidence).",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:15:16.188765+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.42",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: LIPA were changed from to Cholesteryl ester storage disease, MIM# 278000; Wolman disease, MIM# 278000; Lysosomal acid lipase deficiency, MONDO:0010204",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:03:51.533714+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LIPA were set to 11487567",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:02:53.171054+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: LIPA were set to ",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2024-12-04T13:01:46.910214+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: LIPA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "LIPA",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:59:26.757098+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CYP27A1 as ready",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:59:26.741524+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:59:23.464292+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.38",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: CYP27A1 were changed from to Cerebrotendinous xanthomatosis\tMONDO:0008948",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:58:51.299778+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CYP27A1 as Green List (high evidence)",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:58:51.292895+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Included on this panel as a differential diagnosis for FH, particularly with the presence of xanthomas.",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:58:51.257018+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.37",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cyp27a1 has been classified as Green List (High Evidence).",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:56:30.030622+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: FA2H: Rating: GREEN; Mode of pathogenicity: None; Publications: 20853438, 19068277; Phenotypes: hereditary spastic paraplegia 35 MONDO:0012866; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "FA2H",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:53:24.462740+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.36",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: CYP27A1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CYP27A1",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:52:24.463184+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "changed review comment from: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - \r\n https://search.clinicalgenome.org/CCID:004156\r\n\r\nMechanism of disease is LoF that typically impair LDL-C binding to the LDLR.; to: Classified as Definitive by ClinGen General Gene Curation GCEP on 14/11/2018 - \r\n https://search.clinicalgenome.org/CCID:004156\r\n",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:49:54.285974+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on mode of pathogenicity: The mechanism for disease involves defective apo B100 on LDL particles that fail to bind to LDLR.",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:49:54.248235+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.35",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: APOB was changed from to Other",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:47:41.641291+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.34",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: APOB were changed from to hypercholesterolemia, autosomal dominant, type B MONDO:0007751",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:47:10.913318+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.33",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: APOB were set to ",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:44:37.282148+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.32",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: APOB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "APOB",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:43:58.505667+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.31",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Mode of inheritance for gene: ABCG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:43:17.040688+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.30",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ABCG8 were set to ",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:42:25.578835+11:00",
"panel_name": "Familial hypercholesterolaemia",
"panel_id": 333,
"panel_version": "0.29",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Phenotypes for gene: ABCG8 were changed from to Sitosterolemia\tMONDO:0008863",
"entity_name": "ABCG8",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:28:32.238691+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays. \r\nPMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6). \nSources: Literature; to: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays. \r\nPMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6). Cosegergation in 1 affected relative also reported.\r\nSources: Literature",
"entity_name": "RAB35",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:27:57.096329+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RAB35 as ready",
"entity_name": "RAB35",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:27:57.078513+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rab35 has been classified as Red List (Low Evidence).",
"entity_name": "RAB35",
"entity_type": "gene"
},
{
"created": "2024-12-04T12:27:34.522991+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2164",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: RAB35 was added\ngene: RAB35 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: RAB35 was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: RAB35 were set to 38432637; 36928819\nPhenotypes for gene: RAB35 were set to familial hypercholesterolemia MONDO:0005439; neurodevelopmental disorder MONDO:0700092\nReview for gene: RAB35 was set to RED\nAdded comment: PMID: 38432637 - a single case with a neurodevelopmental disorder and a homozygous missense variant (c.80G>A; p.R27H) and supporting in vitro functional assays. \r\nPMID: 36928819 - Posterior probability association (PPA) 0.955 for familial hypercholesterolaemia under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 469 FH cases and 55,033 controls used in BeviMed analysis. A nonsense variant and frameshift enriched in the FH cohort (n=6). \nSources: Literature",
"entity_name": "RAB35",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:44:16.627378+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ARPC3 as ready",
"entity_name": "ARPC3",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:44:16.613372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARPC3",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:43:30.133737+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ARPC3 as Amber List (moderate evidence)",
"entity_name": "ARPC3",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:43:30.121750+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2163",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: arpc3 has been classified as Amber List (Moderate Evidence).",
"entity_name": "ARPC3",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:42:57.131347+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2162",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: ARPC3 was added\ngene: ARPC3 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: ARPC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARPC3 were set to 36928819; 26166300\nPhenotypes for gene: ARPC3 were set to Charcot-Marie-Tooth disease MONDO:0015626\nReview for gene: ARPC3 was set to AMBER\nAdded comment: Posterior probability association (PPA) 0.995 for Charcot-Marie Tooth disease under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 549 CMT cases and 54,856 controls used in BeviMed analysis. 5 rare variants (missense, splice region, a splice acceptor site) enriched in the CMT cohort (n=14).\r\nAdditionally, ArpC3 conditional knockout mice fail to ensheath axons causing axon dysfunction. \nSources: Literature",
"entity_name": "ARPC3",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:28:06.091877+11:00",
"panel_name": "Hypertension and Aldosterone disorders",
"panel_id": 190,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature; to: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 182 early-onset hypertension cases and 55,305 controls used in BeviMed analysis. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \r\nSources: Literature",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:27:48.552735+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature; to: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 182 early-onset hypertension cases and 55,305 controls used in BeviMed analysis. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \r\nSources: Literature",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:25:57.792328+11:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.208",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)\r\n\r\nPMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome. \nSources: Literature; to: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 510 CHI cases assessed and 54,738 controls in BeviMed analysis. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)\r\n\r\nPMID: 20610440; 19383632; 15202026 - A 263 Kb homozygous deletion of FMN1 has been identified in a single case with oligosyndactyly, radioulnar synostosis, hearing loss and renal defects. Also, a supporting null mouse model with oligosyndactyly. Also, a large duplication including GREM1 reported in association with Cenani–Lenz syndrome. \r\nSources: Literature",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-04T11:25:23.314251+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "changed review comment from: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned); to: PMID: 36928819 - Posterior probability association (PPA) between 0.95-0.96 for congenital hearing impairment under a recessive MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 510 CHI cases assessed and 54,738 controls in BeviMed analysis. A splice variant (n=3) & frameshift variant (n=1), possibly in 2 cases and possibly in trans (cosegregation in 2 unaffected relatives mentioned)",
"entity_name": "FMN1",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:12:15.285242+11:00",
"panel_name": "Hypertension and Aldosterone disorders",
"panel_id": 190,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: USP33 as ready",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:12:15.259531+11:00",
"panel_name": "Hypertension and Aldosterone disorders",
"panel_id": 190,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usp33 has been classified as Red List (Low Evidence).",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:12:07.919650+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: USP33 as Red List (low evidence)",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:12:07.905372+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2161",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usp33 has been classified as Red List (Low Evidence).",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:08:03.471343+11:00",
"panel_name": "Hypertension and Aldosterone disorders",
"panel_id": 190,
"panel_version": "1.15",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USP33 was added\ngene: USP33 was added to Hypertension and Aldosterone disorders. Sources: Literature\nMode of inheritance for gene: USP33 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: USP33 were set to 36928819\nPhenotypes for gene: USP33 were set to Renal hypertension MONDO:0001105\nReview for gene: USP33 was set to AMBER\nAdded comment: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:06:27.753346+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: USP33 as ready",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:06:27.742668+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usp33 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:05:55.448780+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: USP33 as Amber List (moderate evidence)",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:05:55.431695+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2160",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: usp33 has been classified as Amber List (Moderate Evidence).",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T10:04:59.753269+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2159",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: USP33 was added\ngene: USP33 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: USP33 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: USP33 were set to 36928819\nPhenotypes for gene: USP33 were set to Renal hypertension MONDO:0001105\nReview for gene: USP33 was set to AMBER\nAdded comment: Posterior probability association (PPA) 0.977 for extreme early-onset hypertension under a dominant MOI in the 100,000 Genomes project “Rareservoir” using a Bayesian statistical method - BeviMed. 2 splice site variants enriched in a renal and urinary tract disorders cohort (n=6). \nSources: Literature",
"entity_name": "USP33",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:39:30.742512+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: SCN3B as Red List (low evidence)",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:39:30.734647+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Disputed Brugada syndrome gene",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:39:30.663087+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.314",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: scn3b has been classified as Red List (Low Evidence).",
"entity_name": "SCN3B",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:39:10.548423+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RNASEL as ready",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:39:10.531474+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnasel has been classified as Red List (Low Evidence).",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:38:41.882427+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RNASEL as Red List (low evidence)",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:38:41.876521+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: Reportedly a prostate cancer risk factor. Not associated with Mendelian disease",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:38:41.825166+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.313",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rnasel has been classified as Red List (Low Evidence).",
"entity_name": "RNASEL",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:35:54.900581+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: RBM12 as ready",
"entity_name": "RBM12",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:35:54.879647+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbm12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM12",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:35:01.589007+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RBM12 as Amber List (moderate evidence)",
"entity_name": "RBM12",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:35:01.570048+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.312",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rbm12 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RBM12",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:32:22.745338+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.311",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: RABL3 were set to 31406347",
"entity_name": "RABL3",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:31:38.295875+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RABL3 as Red List (low evidence)",
"entity_name": "RABL3",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:31:38.291440+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: One family reported and no replication in other pancreatic cancer cohorts at this point.",
"entity_name": "RABL3",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:31:38.266656+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.310",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rabl3 has been classified as Red List (Low Evidence).",
"entity_name": "RABL3",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:30:51.700724+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: RABL3 as Red List (low evidence)",
"entity_name": "RABL3",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:30:51.693822+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Added comment: Comment on list classification: One family reported and no replication in other pancreatic cancer cohorts at this point.",
"entity_name": "RABL3",
"entity_type": "gene"
},
{
"created": "2024-12-04T09:30:51.642847+11:00",
"panel_name": "Incidentalome",
"panel_id": 126,
"panel_version": "0.309",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: rabl3 has been classified as Red List (Low Evidence).",
"entity_name": "RABL3",
"entity_type": "gene"
},
{
"created": "2024-12-04T08:57:46.992107+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: UCHL1 as ready",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-12-04T08:57:46.982935+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Green List (High Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-12-04T08:57:12.901697+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: UCHL1 as Green List (high evidence)",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-12-04T08:57:12.889309+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2158",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: uchl1 has been classified as Green List (High Evidence).",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-12-04T08:56:51.454148+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: UCHL1: Rating: GREEN; Mode of pathogenicity: None; Publications: 23359680, 3340629, 28007905, 32656641, 29735986, 28007905, 35986737, 39030458; Phenotypes: Spastic paraplegia 79A, autosomal dominant, MIM# 620221, Spastic paraplegia 79, autosomal recessive, 615491, MONDO:0014209, Neurodegenerative disease, MONDO:0005559, UCHL1-related; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-12-04T08:45:31.960959+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.2157",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: UCHL1 was added\ngene: UCHL1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: UCHL1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: UCHL1 were set to 23359680; 3340629; 28007905; 32656641; 29735986; 28007905; 35986737; 39030458\nPhenotypes for gene: UCHL1 were set to Spastic paraplegia 79A, autosomal dominant, MIM# 620221; Spastic paraplegia 79, autosomal recessive, 615491; MONDO:0014209; Neurodegenerative disease, MONDO:0005559, UCHL1-related",
"entity_name": "UCHL1",
"entity_type": "gene"
},
{
"created": "2024-12-03T17:01:11.424579+11:00",
"panel_name": "Neurodegeneration with brain iron accumulation",
"panel_id": 3438,
"panel_version": "0.35",
"user_name": "Sangavi Sivagnanasundram",
"item_type": "entity",
"text": "reviewed gene: DCAF17: Rating: GREEN; Mode of pathogenicity: None; Publications: 28542792, 38320940, 30409855, 35876063; Phenotypes: Woodhouse-Sakati syndrome MONDO:0009419; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DCAF17",
"entity_type": "gene"
},
{
"created": "2024-12-03T16:50:55.131111+11:00",
"panel_name": "Epidermolysis bullosa",
"panel_id": 101,
"panel_version": "1.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: TUFT1 as Amber List (moderate evidence)",
"entity_name": "TUFT1",
"entity_type": "gene"
}
]
}