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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1802",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1800",
"results": [
{
"created": "2020-05-11T20:32:33.923311+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NODAL as ready",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:32:33.914028+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nodal has been classified as Red List (Low Evidence).",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:32:28.030743+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.138",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NODAL were changed from to Heterotaxy, visceral, 5 (MIM#270100)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:31:57.176033+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NODAL as Red List (low evidence)",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:31:57.160662+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.137",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: nodal has been classified as Red List (Low Evidence).",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:30:32.903784+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIH1D3 as ready",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:30:32.894936+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pih1d3 has been classified as Green List (High Evidence).",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:30:23.797781+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2798",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:29:57.867066+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2797",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIH1D3 were set to ",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:29:38.451974+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2796",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIH1D3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:29:14.674441+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28041644, 24421334, 28176794; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked (MIM#300991); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:28:17.935554+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIH1D3 as ready",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:28:17.926263+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pih1d3 has been classified as Green List (High Evidence).",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:28:10.628689+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.39",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:27:42.168452+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.38",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIH1D3 were set to ",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:27:13.760153+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIH1D3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:26:42.472258+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28041644, 24421334, 28176794; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked (MIM#300991); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:25:10.891276+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PIH1D3 as ready",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:25:10.878735+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pih1d3 has been classified as Green List (High Evidence).",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:25:07.963431+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PIH1D3 were changed from to Ciliary dyskinesia, primary, 36, X-linked (MIM#300991)",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:24:37.759709+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PIH1D3 were set to ",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:24:07.828184+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PIH1D3 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:22:53.087424+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL10A1 as ready",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:22:53.078682+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col10a1 has been classified as Green List (High Evidence).",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:22:45.160290+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2795",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COL10A1 were changed from to Metaphyseal chondrodysplasia, Schmid type, MIM#156500",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:22:23.901989+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2794",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL10A1 were set to ",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:22:02.102575+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2793",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL10A1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:21:38.444190+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2792",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15880705, 31633898; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, MIM#156500; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:20:35.445450+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COL10A1 as ready",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:20:35.435242+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: col10a1 has been classified as Green List (High Evidence).",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:20:30.937782+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COL10A1 were set to ",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T20:20:00.675620+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COL10A1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T18:39:35.965143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2792",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CEP112 as Amber List (moderate evidence)",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2020-05-11T18:39:35.953550+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2792",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cep112 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2020-05-11T18:39:14.431106+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2791",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CEP112 was added\ngene: CEP112 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CEP112 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CEP112 were set to 31654588\nPhenotypes for gene: CEP112 were set to Acephalic spermatozoa; infertility\nReview for gene: CEP112 was set to AMBER\nAdded comment: Two unrelated cases reported with acephalic spermatozoa, one case with a homozygous nonsense variant and the other case with biallelic missense variants. CEP112 expression was significantly reduced in one of the cases, suggesting loss of function as a mechanism of disease. \nSources: Literature",
"entity_name": "CEP112",
"entity_type": "gene"
},
{
"created": "2020-05-11T17:20:45.062320+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2790",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "changed review comment from: Only 3 pathogenic missense reported to date, although two of these are recurring in unrelated individuals (ClinVar, Decipher, PMID: 27479907). No functional studies performed.; to: Only 3 pathogenic missense reported to date in unrelated individuals (ClinVar, Decipher, PMID: 27479907). No functional studies performed.",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T17:18:23.021388+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2790",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: PRKD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27479907; Phenotypes: Congenital heart defects and ectodermal dysplasia, 617364; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "PRKD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T17:16:06.002989+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: FOXC1 as ready",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-05-11T17:16:05.991042+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxc1 has been classified as Green List (High Evidence).",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-05-11T17:16:03.078999+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: FOXC1 as Green List (high evidence)",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-05-11T17:16:03.065420+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.26",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: foxc1 has been classified as Green List (High Evidence).",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-05-11T17:15:47.956101+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.25",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: FOXC1 was added\ngene: FOXC1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: FOXC1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: FOXC1 were set to 29751260; 31719132; 25250569\nPhenotypes for gene: FOXC1 were set to Stroke; cerebral small-vessel disease\nReview for gene: FOXC1 was set to GREEN\nAdded comment: >3 cases reported with stroke and a zebrafish model. \nSources: Literature",
"entity_name": "FOXC1",
"entity_type": "gene"
},
{
"created": "2020-05-11T16:16:00.160900+10:00",
"panel_name": "Dilated Cardiomyopathy",
"panel_id": 95,
"panel_version": "0.35",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "gene: JPH2 was added\ngene: JPH2 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: JPH2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: JPH2 were set to PMID: 31227780\nPhenotypes for gene: JPH2 were set to dilated cardiomyopathy\nReview for gene: JPH2 was set to AMBER\nAdded comment: 2 consanguineous Iranian families with DCM, harbouring homozygous p.(E641*) with healthy carriers reported. \nSources: Literature",
"entity_name": "JPH2",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:50:28.399030+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: POLG as ready",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:50:28.389439+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:50:23.348525+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: POLG as Green List (high evidence)",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:50:23.339830+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: polg has been classified as Green List (High Evidence).",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:50:15.140507+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: POLG was added\ngene: POLG was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: POLG was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: POLG were set to Mitochondrial DNA depletion syndrome 4B (MNGIE type), MIM# 613662\nReview for gene: POLG was set to GREEN\nAdded comment: Variable age of onset, including in infancy. White matter changes in some. \nSources: Expert list",
"entity_name": "POLG",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:35:37.906387+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLP1 as ready",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:35:37.892964+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:35:33.402212+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLP1 as Green List (high evidence)",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:35:33.390231+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plp1 has been classified as Green List (High Evidence).",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:35:24.668083+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PLP1 was added\ngene: PLP1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: PLP1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: PLP1 were set to Pelizaeus-Merzbacher disease, MIM#\t312080\nReview for gene: PLP1 was set to GREEN\nAdded comment: Hypomyelinative leukodystrophy, typical onset in infancy. \nSources: Expert list",
"entity_name": "PLP1",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:31:19.945955+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: CTSA as Amber List (moderate evidence)",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:31:19.935524+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.24",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: ctsa has been classified as Amber List (Moderate Evidence).",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:31:12.056367+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.23",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: CTSA was added\ngene: CTSA was added to Stroke. Sources: Literature\nMode of inheritance for gene: CTSA was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CTSA were set to 27664989; 31177426; 23175731\nPhenotypes for gene: CTSA were set to Cathepsin A-related Arteriopathy With Strokes and Leukoencephalopathy (CARASAL)\nReview for gene: CTSA was set to AMBER\nAdded comment: Three families reported with the same variant (c.973C > T), and a study mapping the condition to 20q13, where CTSA is located, but no sequencing conducted. \nSources: Literature",
"entity_name": "CTSA",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:31:01.431067+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: OFD1 as ready",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:31:01.416112+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Green List (High Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:21:49.808068+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.36",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: NODAL was added\ngene: NODAL was added to Heterotaxy. Sources: Expert Review\nMode of inheritance for gene: NODAL was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: NODAL were set to 9354794; 19064609\nPhenotypes for gene: NODAL were set to Heterotaxy, visceral, 5 (MIM#270100)\nReview for gene: NODAL was set to RED\nAdded comment: Minimal reports and variants in original publications present in gnomAD at a higher than expected frequency, originally concluded to be due to incomplete penetrance.\r\n\r\nPMID: 9354794 (1997): R183Q reported in affected daughter and unaffected mother. (26 hets; 1 hom in gnomAD)\r\n\r\nPMID: 19064609 (2009): Reported 4 missense, 1 indel and 2 splice site variants. G260R also found in unaffected individual, concluded to have incomplete penetrance (80 hets in gnomAD); R275C (13 hets in gnomAD); E203K (113 hets and 1 hom) \nSources: Expert Review",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-11T13:12:49.418135+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.136",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: NODAL: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Heterotaxy, visceral, 5 (MIM#270100); Mode of inheritance: None",
"entity_name": "NODAL",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:32:56.994592+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200 to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:32:36.527416+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.136",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: OFD1 were changed from to Retinitis pigmentosa 23, MIM# 300424; Joubert syndrome 10, MIM# 300804; Orofaciodigital syndrome I, MIM# 311200",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:31:58.827272+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.135",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: OFD1 were set to ",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:31:16.954498+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.134",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: OFD1 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:30:44.175166+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32276433, 31373179; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:29:28.512521+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: OFD1 as Red List (low evidence)",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:29:28.503450+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ofd1 has been classified as Red List (Low Evidence).",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T12:28:58.922249+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: OFD1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Retinitis pigmentosa 23, MIM# 300424, Joubert syndrome 10, MIM# 300804, Orofaciodigital syndrome I, MIM# 311200; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "OFD1",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:47:15.972031+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "removed gene:RAG1 from the panel",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-05-11T11:46:32.656039+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNN1A as ready",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:46:32.643738+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1a has been classified as Green List (High Evidence).",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:46:25.404708+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCNN1A as Green List (high evidence)",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:46:25.394501+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1a has been classified as Green List (High Evidence).",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:45:32.464448+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SCNN1B as ready",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:45:32.451150+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1b has been classified as Green List (High Evidence).",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:45:27.264100+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SCNN1B as Green List (high evidence)",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:45:27.254965+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: scnn1b has been classified as Green List (High Evidence).",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:39:04.143803+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL4A2 as ready",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:39:04.135081+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Green List (High Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:39:00.039435+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL4A2 as Green List (high evidence)",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:39:00.028575+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.22",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col4a2 has been classified as Green List (High Evidence).",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:38:49.658506+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.21",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL4A2 was added\ngene: COL4A2 was added to Stroke. Sources: Literature\nMode of inheritance for gene: COL4A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL4A2 were set to 22209247; 30356112; 27794444\nReview for gene: COL4A2 was set to GREEN\nAdded comment: At least 6 cases reported with intracerebral bleeding/stroke, and a mouse model with stroke. \nSources: Literature",
"entity_name": "COL4A2",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:37:25.066992+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "Deleted their comment",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:36:43.950602+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: PIH1D3: Added comment: >5 families reported with PCD\r\n\r\nPMID: 28176794; 6 families reported\r\n\r\nPMID: 28041644; Reported 4 affected males from 2 families. Functional studies showed cilia and flagella immotility. (2016)\r\n\r\nPMID: 24421334: Mouse model (2014); Changed publications: 28041644, 24421334, 28176794",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:35:44.821496+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PIH1D3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28041644, 24421334; Phenotypes: Ciliary dyskinesia, primary, 36, X-linked (MIM#300991); Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females",
"entity_name": "PIH1D3",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:16:50.247107+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.20",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: COL10A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 15880705, 31633898; Phenotypes: Metaphyseal chondrodysplasia, Schmid type, 156500; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "COL10A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T11:00:27.103869+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2020-05-11T10:36:27.280889+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: RAG1 was added\ngene: RAG1 was added to Ciliary Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: RAG1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: RAG1 were set to 26689875; 26186701\nPhenotypes for gene: RAG1 were set to Severe combined immunodeficiency, B cell-negative (MIM#601457)\nAdded comment: Phenotypic over with PCD (recurrent respiratory problems). \r\n\r\nPMID: 26689875; Reported 2 patients with classic SCID, 1 atypical SCID and one with Omen syndrome\r\n\r\nPMID: 26186701: 1 patient with compound het variants in RAG1 \r\n\r\nGreen in PanelApp UK - Respiratory ciliopathies list \nSources: Expert Review",
"entity_name": "RAG1",
"entity_type": "gene"
},
{
"created": "2020-05-11T09:47:29.680435+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SCNN1A was added\ngene: SCNN1A was added to Ciliary Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: SCNN1A was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCNN1A were set to 22207244; 19017867; 19462466\nPhenotypes for gene: SCNN1A were set to Bronchiectasis with or without elevated sweat chloride 2 (MIM#613021)\nReview for gene: SCNN1A was set to GREEN\nAdded comment: Phenotypic overlap with PCD\r\nEncodes for the alpha subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244) \nSources: Expert Review",
"entity_name": "SCNN1A",
"entity_type": "gene"
},
{
"created": "2020-05-11T09:32:12.366058+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.68",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SCNN1B was added\ngene: SCNN1B was added to Ciliary Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: SCNN1B was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: SCNN1B were set to 22207244; 16207733; 18507830\nPhenotypes for gene: SCNN1B were set to Bronchiectasis with or without elevated sweat chloride 1 (MIM#211400)\nReview for gene: SCNN1B was set to GREEN\nAdded comment: Phenotypic overlap with PCD\r\nEncodes for the beta subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244)\r\n\r\nPMID: 16207733: 2 patients reported \r\nPMID: 18507830: 2 patients with bronchiectasis \nSources: Expert Review",
"entity_name": "SCNN1B",
"entity_type": "gene"
},
{
"created": "2020-05-11T09:25:56.645423+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2790",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Marked gene: KPNA7 as ready",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2020-05-11T09:25:56.632105+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2790",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "Gene: kpna7 has been classified as Red List (Low Evidence).",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2020-05-11T09:24:42.814673+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2790",
"user_name": "Alison Yeung",
"item_type": "entity",
"text": "gene: KPNA7 was added\ngene: KPNA7 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KPNA7 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KPNA7 were set to 24045845; 32179771\nPhenotypes for gene: KPNA7 were set to Epilepsy; intellectual disability\nReview for gene: KPNA7 was set to RED\nAdded comment: Single family with two siblings \nSources: Literature",
"entity_name": "KPNA7",
"entity_type": "gene"
},
{
"created": "2020-05-11T08:31:30.188167+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: COL3A1 as ready",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T08:31:30.178870+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T08:31:27.623648+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: COL3A1 as Green List (high evidence)",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T08:31:27.610680+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.20",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: col3a1 has been classified as Green List (High Evidence).",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T08:31:19.340934+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.19",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "gene: COL3A1 was added\ngene: COL3A1 was added to Stroke. Sources: Literature\nMode of inheritance for gene: COL3A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: COL3A1 were set to 30356112; 12786757; 31903434; 25355833\nPhenotypes for gene: COL3A1 were set to Ehlers-Danlos syndrome, vascular type MIM#130050\nReview for gene: COL3A1 was set to GREEN\nAdded comment: At least 4 cervical artery dissection cases with a heterozygous COL3A1 variant, which is a major cause of ischaemic stroke. \nSources: Literature",
"entity_name": "COL3A1",
"entity_type": "gene"
},
{
"created": "2020-05-11T08:17:30.694093+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: CD59 as ready",
"entity_name": "CD59",
"entity_type": "gene"
},
{
"created": "2020-05-11T08:17:30.680899+10:00",
"panel_name": "Stroke",
"panel_id": 3141,
"panel_version": "0.18",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: cd59 has been classified as Green List (High Evidence).",
"entity_name": "CD59",
"entity_type": "gene"
}
]
}