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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1807",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1805",
"results": [
{
"created": "2020-05-06T18:48:30.091104+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP53 as Red List (low evidence)",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:48:30.081659+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap53 has been classified as Red List (Low Evidence).",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:39:23.758361+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC25 as ready",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:39:23.746015+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:39:13.555143+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2747",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary, 35 (MIM#617092)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:38:52.407378+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2746",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to ",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:38:31.925084+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2745",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:38:05.845153+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC25 as Amber List (moderate evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:38:05.831567+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2744",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:37:45.219928+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: Ciliary dyskinesia, primary, 35 (MIM#617092); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:36:47.388514+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC25 as ready",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:36:47.374124+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:36:42.966480+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TTC25 were changed from to Ciliary dyskinesia, primary, 35 (MIM#617092)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:36:17.041989+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TTC25 were set to ",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:35:30.308136+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.23",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TTC25 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:35:02.053779+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC25 as Amber List (moderate evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:35:02.044659+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.22",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:34:33.166558+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.21",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TTC25: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486780; Phenotypes: Ciliary dyskinesia, primary, 35 (MIM#617092); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:32:58.039665+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TTC25 as ready",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:32:58.028246+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:32:51.930853+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TTC25 as Amber List (moderate evidence)",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:32:51.918767+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ttc25 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:31:42.521901+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP43 as ready",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:31:42.516278+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Good evidence for bi-allelic disease, much less so for mono-allelic.",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:31:42.474872+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Green List (High Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:31:07.904789+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP43 as Green List (high evidence)",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:31:07.895722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2743",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Green List (High Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:27:31.762293+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CFAP43 as ready",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:27:31.752507+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Added comment: Comment when marking as ready: Good evidence for bi-allelic disease, much less so for mono allelic.",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:27:31.721483+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Green List (High Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:26:13.152494+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CFAP43 as Green List (high evidence)",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T18:26:13.138527+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cfap43 has been classified as Green List (High Evidence).",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T16:31:34.121376+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH3: Rating: GREEN; Mode of pathogenicity: None; Publications: 26073779; Phenotypes: Ciliary dyskinesia, primary, 32 (MIM#616481); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH3",
"entity_type": "gene"
},
{
"created": "2020-05-06T14:48:05.797459+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: GDF1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 32144877; Phenotypes: Congenital heart defects, multiple types, 6 613854, Right atrial isomerism (Ivemark) 208530; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "GDF1",
"entity_type": "gene"
},
{
"created": "2020-05-06T14:43:41.724010+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH4A: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 22448264; Phenotypes: Ciliary dyskinesia, primary, 11 (MIM#612649); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH4A",
"entity_type": "gene"
},
{
"created": "2020-05-06T14:25:48.301905+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: DNAJB13 was added\ngene: DNAJB13 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: DNAJB13 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: DNAJB13 were set to PMID:27486783\nPhenotypes for gene: DNAJB13 were set to Ciliary dyskinesia, primary, 34\t617091\nReview for gene: DNAJB13 was set to AMBER\nAdded comment: PMID: 27486783 - 2 unrelated families (missense, splice). One family hadsinopulmonary syndrome and TEM of nasal cells shows a reduction in cilia. Of remaining cilia, there was a reduction in motility. Functional studies of missense shows increased protein instability and degradation -> protein is absent from patient cilia.\r\n\r\nSummary: 2 unrelated families. Functional studies prove LOF but no animal models to make it green in this list \nSources: Literature",
"entity_name": "DNAJB13",
"entity_type": "gene"
},
{
"created": "2020-05-06T14:06:20.143680+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: DNAH1: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 31507630, 31765523, 25927852, 24360805; Phenotypes: ?Ciliary dyskinesia, primary, 37 617577, Spermatogenic failure 18 617576; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "DNAH1",
"entity_type": "gene"
},
{
"created": "2020-05-06T13:59:24.393749+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 25789548, 31285900; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T13:41:34.067944+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "Deleted their review",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T13:36:52.502919+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: RSPH9: Rating: GREEN; Mode of pathogenicity: None; Publications: 23993197; Phenotypes: Ciliary dyskinesia, primary, 12 (MIM#612650); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "RSPH9",
"entity_type": "gene"
},
{
"created": "2020-05-06T13:23:15.850721+10:00",
"panel_name": "Heterotaxy",
"panel_id": 108,
"panel_version": "0.21",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: ZIC3 was added\ngene: ZIC3 was added to Heterotaxy. Sources: Expert Review\nMode of inheritance for gene: ZIC3 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: ZIC3 were set to 27406248; 30120289\nPhenotypes for gene: ZIC3 were set to Heterotaxy, visceral, 1, X-linked (MIM#306955)\nReview for gene: ZIC3 was set to GREEN\nAdded comment: Pathogenic loss of function variants reported in >5 patients with heterotaxy\r\n\r\nPMID: 27406248; Paulussen 2016: Reported 6 pathogenic variants in a cohort of patients with congenital heart disease including heterotaxy and reviewed previously published cases. Functional studies performed confirming LoF mechanism. Classified inframe dups within polyA region as VUS.\r\n\r\nPMID: 30120289; Li 2018: 1 additional hemi missense reported in a male patients inherited from carrier mother. \nSources: Expert Review",
"entity_name": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T13:13:34.092729+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: ZIC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27406248, 20452998; Phenotypes: Congenital heart defects, nonsyndromic, 1, X-linked (MIM#306955), Heterotaxy, visceral, 1, X-linked (MIM#306955); 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": "ZIC3",
"entity_type": "gene"
},
{
"created": "2020-05-06T12:12:47.864041+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CRELD1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 22740159; Phenotypes: {Atrioventricular septal defect, susceptibility to, 2} 606217, Atrioventricular septal defect, partial, with heterotaxy syndrome 606217; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CRELD1",
"entity_type": "gene"
},
{
"created": "2020-05-06T11:59:53.168839+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CFC1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 31633655, 18162845, 25423076, 11062482; Phenotypes: Heterotaxy, visceral, 2, autosomal 605376; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "CFC1",
"entity_type": "gene"
},
{
"created": "2020-05-06T11:59:24.755276+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: SCNN1G was added\ngene: SCNN1G was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: SCNN1G was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: SCNN1G were set to 22207244; 31655555; 30801930; 28484659\nPhenotypes for gene: SCNN1G were set to Bronchiectasis with or without elevated sweat chloride 3 (MIM#613071); Liddle syndrome 2 (MIM#618114); Pseudohypoaldosteronism, type I (MIM#264350)\nReview for gene: SCNN1G was set to AMBER\nAdded comment: Encodes for the gamma subunit of the epithelial sodium channel, which is distributed along the motile cilia. (PMID: 22207244). Respiratory problems is a feature of pseudohypoaldosteronism Type I. Minimal reports to date. \r\n\r\nKozina 2019; PMID: 31655555: Reported one family and reviewed 6 other families with het truncating variants in SCNN1G causing Liddle syndrome. Unsure if features resemble ciliopathies\r\n\r\nBush 2019; PMID: 30801930; ENaC mutations, especially in-trans with a CFTR mutation, are thought to be risk factors for bronchiectasis, rather than actually causative\r\n\r\nNur 2017; PMID: 28484659; Review of PHA1. 2 patients reported with biallelic LoF type variants in SCNN1G. \nSources: Expert Review",
"entity_name": "SCNN1G",
"entity_type": "gene"
},
{
"created": "2020-05-06T11:26:55.527562+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: SPAG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24055112; Phenotypes: Ciliary dyskinesia, primary, 28 (MIM#615505); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPAG1",
"entity_type": "gene"
},
{
"created": "2020-05-06T11:19:42.969656+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: PMM2 was added\ngene: PMM2 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: PMM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PMM2 were set to 28108845\nPhenotypes for gene: PMM2 were set to Congenital disorder of glycosylation, type Ia (MIM#212065)\nReview for gene: PMM2 was set to AMBER\nAdded comment: Encodes for phosphomannomutase 2 required for glycosylation. Not a ciliopathy gene however CDG has many overlapping features with ciliopathy. Left as Amber. \r\n\r\nPMID: 28108845: Review article. Well reported gene causing CDG. >700 patients reported\r\n\r\nPMID: 25497157; Many patients reported. Similar features as ciliopathies \nSources: Expert Review",
"entity_name": "PMM2",
"entity_type": "gene"
},
{
"created": "2020-05-06T11:08:34.846713+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: PRKCSH: Rating: AMBER; Mode of pathogenicity: Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments; Publications: 19876928; Phenotypes: Polycystic liver disease 1 (MIM#174050); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "PRKCSH",
"entity_type": "gene"
},
{
"created": "2020-05-06T10:48:38.272081+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CFAP53 was added\ngene: CFAP53 was added to Ciliary Dyskinesia. Sources: Literature\nMode of inheritance for gene: CFAP53 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CFAP53 were set to PMID:28621423; 22577226; 26531781\nPhenotypes for gene: CFAP53 were set to Heterotaxy, visceral, 6, autosomal recessive 614779\nReview for gene: CFAP53 was set to GREEN\nAdded comment: aka CCDC11\r\n\r\nPMID: 22577226 - 2 siblings with a homozygous splice variant. One sibling had situs invertus syndrome and the other heterotaxy. One sibling far less severely affected. Patients had normal beating cilia, no respiratory issues\r\n\r\nPMID: 28621423 - no new patients, performs functional studies on patient cells from ^, and frog animal models. Assays demonstrate mislocalized protein, increased cilia length in patient samples, while animal models showed CFAP53/CCDC11 is important for left-right patterning.\r\n\r\nPMID: 26531781 - 1 patient with a homozygous PTC with situs inversus. Respiratory function was described as normal. Zebrafish model recapitulates the human phenotype.\r\n\r\nSummary: 2 patients described with primary cilia dyskinesia conditions + animal models \nSources: Literature",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T10:42:08.771288+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.103",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: CFAP53: Rating: RED; Mode of pathogenicity: None; Publications: PMID:28621423, 22577226, 26531781; Phenotypes: Heterotaxy, visceral, 6, autosomal recessive 614779; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "CFAP53",
"entity_type": "gene"
},
{
"created": "2020-05-06T10:19:41.621864+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "gene: TTC25 was added\ngene: TTC25 was added to Ciliary Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: TTC25 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TTC25 were set to 27486780\nPhenotypes for gene: TTC25 were set to Ciliary dyskinesia, primary, 35 (MIM#617092)\nReview for gene: TTC25 was set to AMBER\nAdded comment: 2 families reported with PCD. Mouse model showed immotile nodal cilia. Left as amber for now. \r\n\r\nGene ncodes a component of the outer dynein arm required to develop the main mechanical force to generate ciliary beats\r\n(Gene is non coding in gnomad v2 and coding in v3) \nSources: Expert Review",
"entity_name": "TTC25",
"entity_type": "gene"
},
{
"created": "2020-05-06T09:56:18.632432+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2742",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CFAP43 was added\ngene: CFAP43 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551\nPhenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1 236690; Spermatogenic failure 19\t617592\nAdded comment: aka WDR96\r\n\r\nPMID: 31884020 - animal models (mouse, frog) demonstrate the protein localizes in ciliary axoneme and is involved in MOTILE cilia movement. LOF CFAP43 caused mucus acucmulation in airways, impaired spermatogenesis and hydrocephalus.\r\n\r\nPMID: 28552195 - 3x chet (bilallelic PTCs or chet PTC/missense) with abnormal sperm motility. Null mouse models were also infertile.\r\n\r\nPMID: 31004071 - one family with a heterozygous nonsense and AD inheritance of late onset hydrocephaly (checked in Mutalyzer, variant is NMD predicted). Abnormal cilia observed from mucosa sample. Null mice also show abnormal sperm and dilation of brain ventricles.\r\n\r\nPMID: 29449551 - reports an additional 10 patients with either homozygous PTCs or chet PTC/missense who were infertile with flagella defects\r\n\r\nSummary: single report of AD hydrocephaly \nSources: Literature",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T09:53:26.285989+10:00",
"panel_name": "Ciliary Dyskinesia",
"panel_id": 82,
"panel_version": "0.45",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "gene: CFAP43 was added\ngene: CFAP43 was added to Ciliary Dyskinesia. Sources: Expert Review\nMode of inheritance for gene: CFAP43 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: CFAP43 were set to PMID: 31884020; 28552195; 31004071; 29449551\nPhenotypes for gene: CFAP43 were set to Hydrocephalus, normal pressure, 1\t236690; Spermatogenic failure 19\t617592\nReview for gene: CFAP43 was set to GREEN\nAdded comment: aka WDR96\r\n\r\nPMID: 31884020 - animal models (mouse, frog) demonstrate the protein localizes in ciliary axoneme and is involved in MOTILE cilia movement. LOF CFAP43 caused mucus acucmulation in airways, impaired spermatogenesis and hydrocephalus.\r\n\r\nPMID: 28552195 - 3x chet (bilallelic PTCs or chet PTC/missense) with abnormal sperm motility. Null mouse models were also infertile.\r\n\r\nPMID: 31004071 - one family with a heterozygous nonsense and AD inheritance of late onset hydrocephaly (checked in Mutalyzer, variant is NMD predicted). Abnormal cilia observed from mucosa sample. Null mice also show abnormal sperm and dilation of brain ventricles.\r\n\r\nPMID: 29449551 - reports an additional 10 patients with either homozygous PTCs or chet PTC/missense who were infertile with flagella defects\r\n\r\nSummary: single report of AD hydrocephaly \nSources: Expert Review",
"entity_name": "CFAP43",
"entity_type": "gene"
},
{
"created": "2020-05-06T08:46:21.247016+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEPACAM as ready",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2020-05-06T08:46:21.234817+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hepacam has been classified as Green List (High Evidence).",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2020-05-06T08:46:14.826562+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HEPACAM as Green List (high evidence)",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2020-05-06T08:46:14.813213+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.112",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hepacam has been classified as Green List (High Evidence).",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2020-05-06T08:45:50.090890+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.111",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HEPACAM was added\ngene: HEPACAM was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: HEPACAM was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: HEPACAM were set to 21419380; 21419380\nPhenotypes for gene: HEPACAM were set to Megalencephalic leukoencephalopathy with subcortical cysts 2A, MIM#\t613925; Megalencephalic leukoencephalopathy with subcortical cysts 2B, remitting, with or without mental retardation, MIM#\t613926\nReview for gene: HEPACAM was set to GREEN\nAdded comment: Multiple families reported with both mono-allelic and bi-allelic disease; bi-allelic disease is generally more severe. Onset is typically in infancy. \nSources: Expert list",
"entity_name": "HEPACAM",
"entity_type": "gene"
},
{
"created": "2020-05-05T18:25:44.586601+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYRF as ready",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-05-05T18:25:44.577086+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myrf has been classified as Green List (High Evidence).",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-05-05T18:25:39.633095+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYRF as Green List (high evidence)",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-05-05T18:25:39.624156+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: myrf has been classified as Green List (High Evidence).",
"entity_name": "MYRF",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:54:50.226758+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLK2 as ready",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:54:50.217830+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk2 has been classified as Red List (Low Evidence).",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:54:28.320240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2742",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYLK2 were changed from to Cardiomyopathy, hypertrophic, 1, digenic, 192600",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:54:00.317618+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2741",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYLK2 were set to ",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:53:26.060644+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2740",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYLK2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:52:56.289362+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYLK2 as Red List (low evidence)",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:52:56.280396+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2739",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk2 has been classified as Red List (Low Evidence).",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:52:24.641992+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: None; Publications: 11733062, 24082139, 25825456, 20301725; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic, 192600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:49:10.717643+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MYLK2 as ready",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:49:10.703400+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk2 has been classified as Red List (Low Evidence).",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:49:07.542478+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: MYLK2 were changed from to Cardiomyopathy, hypertrophic, 1, digenic, 192600",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:48:35.740904+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: MYLK2 were set to ",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:48:04.379727+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: MYLK2 was changed from to Other",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:47:36.270337+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: MYLK2 was changed from Unknown to Other",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:47:05.925369+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MYLK2 as Red List (low evidence)",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T16:47:05.910458+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.24",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mylk2 has been classified as Red List (Low Evidence).",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T12:29:07.619826+10:00",
"panel_name": "Hypertrophic cardiomyopathy_HCM",
"panel_id": 111,
"panel_version": "0.23",
"user_name": "Kristin Rigbye",
"item_type": "entity",
"text": "reviewed gene: MYLK2: Rating: RED; Mode of pathogenicity: Other; Publications: 11733062, 24082139, 25825456, 20301725; Phenotypes: Cardiomyopathy, hypertrophic, 1, digenic, 192600; Mode of inheritance: Other",
"entity_name": "MYLK2",
"entity_type": "gene"
},
{
"created": "2020-05-05T11:00:47.214341+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CDX2 as ready",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T11:00:47.205081+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T11:00:35.478708+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2738",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CDX2 were changed from to Persistent cloaca",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T11:00:13.193158+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2737",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: CDX2 were set to ",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T10:59:56.809570+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2736",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: CDX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T10:59:37.783032+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CDX2 as Amber List (moderate evidence)",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T10:59:37.774131+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2735",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cdx2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T10:59:16.874249+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2734",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: CDX2: Rating: AMBER; Mode of pathogenicity: None; Publications: 29177441; Phenotypes: Persistent cloaca; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "CDX2",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:26:27.234889+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLB1 as ready",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:26:27.222673+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:26:19.611627+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GLB1 as Green List (high evidence)",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:26:19.600199+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glb1 has been classified as Green List (High Evidence).",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:26:09.617971+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.109",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GLB1 was added\ngene: GLB1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: GLB1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GLB1 were set to 25691190\nPhenotypes for gene: GLB1 were set to GM1-gangliosidosis, type I, MIM#\t230500; GM1-gangliosidosis, type II, MIM#\t230600\nReview for gene: GLB1 was set to GREEN\nAdded comment: Sources: Expert list",
"entity_name": "GLB1",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:18:05.004555+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GJC2 as ready",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:18:04.994266+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Green List (High Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:17:59.260198+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GJC2 as Green List (high evidence)",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:17:59.251495+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.108",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gjc2 has been classified as Green List (High Evidence).",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-05-05T09:17:48.557194+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GJC2 was added\ngene: GJC2 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: GJC2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GJC2 were set to 22669416; 24374284; 15192806\nPhenotypes for gene: GJC2 were set to Leukodystrophy, hypomyelinating, 2, MIM#\t608804\nReview for gene: GJC2 was set to GREEN\nAdded comment: Multiple affected families reported, onset is typically in infancy. \nSources: Expert list",
"entity_name": "GJC2",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:58:42.431271+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GFAP as ready",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:58:42.423247+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gfap has been classified as Green List (High Evidence).",
"entity_name": "GFAP",
"entity_type": "gene"
},
{
"created": "2020-05-05T08:58:37.220943+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GFAP as Green List (high evidence)",
"entity_name": "GFAP",
"entity_type": "gene"
}
]
}