HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 220489,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1274",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1272",
"results": [
{
"created": "2021-07-08T09:07:46.392003+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8266",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PITRM1 were changed from Ataxia; Intellectual disability to Spinocerebellar ataxia-30 (SCAR30), MIM#619405; intellectual disability; cognitive decline; psychosis",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:06:59.071910+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: PITRM1: Changed phenotypes: Spinocerebellar ataxia-30 (SCAR30), MIM#619405",
"entity_name": "PITRM1",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:05:59.347433+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:05:41.118263+10:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:05:27.020174+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.284",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability; ataxia; cerebellar atrophy to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:05:03.997177+10:00",
"panel_name": "Ataxia - paediatric",
"panel_id": 271,
"panel_version": "0.283",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:04:44.864447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3939",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:04:11.321498+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:03:53.749741+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.356",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:03:23.106017+10:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.355",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: VPS41: Changed phenotypes: Spinocerebellar ataxia-29 (SCAR29), MIM#619389, Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T09:02:44.812470+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8265",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VPS41 were changed from Dystonia; intellectual disability to Spinocerebellar ataxia-29 (SCAR29), MIM#619389; Progressive neurodevelopmental disorder with ataxia, hypotonia, dystonia, intellectual disability and speech delay",
"entity_name": "VPS41",
"entity_type": "gene"
},
{
"created": "2021-07-08T05:06:32.047970+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8264",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "gene: IRX6 was added\ngene: IRX6 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: IRX6 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: IRX6 were set to 33891002\nPhenotypes for gene: IRX6 were set to cone dystrophy, MONDO:0000455\nMode of pathogenicity for gene: IRX6 was set to Other\nReview for gene: IRX6 was set to GREEN\nAdded comment: Not associated with any disorder in OMIM or Gene2Phenotype.\r\n\r\nPMID: 33891002 - Khol et al 2021 - report 3 unrelated families with duplications of a region covering the genes IRX5 and IRX6 completely, and the proximal exons of MMP2 and cone dystrophy. They propose that overexpression of IRX5 and IRX6 may be the cause of the disease, and this is supported by expression analysis in patient-derived fibroblasts and zebrafish experiments.\r\n\r\nInitial family is a large 5 generation German family with 14 members with autosomal dominant cone dystrophy in which a 600kb duplicated region covering IRX5/IRX6 and part of MMP2 was identified. 2 additional families of Chinese and Dutch descent with copy number gains of ~700 and ~850 kb, covering the same region were then identified. The smallest region of overlap is 608kb. In addition another family of German decent is reported with adCD and the same duplication as the first German family. It is not known if they are distantly related. Segregation analysis on available members of all families showed the duplication in affected members and not in unaffected.\r\n\r\nThey find that IRX5, IRX6 and MMP2 are expressed in human adult retina. Several lincRNA within the locus are also expressed. In patient derived fibroblasts IRX5 and IRX6 showed increased expression levels. Over expression of IRX5 and IRX6 results in impaired visual performance in zebrafish larvae. \nSources: Literature",
"entity_name": "IRX6",
"entity_type": "gene"
},
{
"created": "2021-07-07T23:00:40.353055+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8264",
"user_name": "Eleanor Williams",
"item_type": "entity",
"text": "reviewed gene: IRX5: Rating: GREEN; Mode of pathogenicity: Other; Publications: 33891002; Phenotypes: cone dystrophy, MONDO:0000455; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "IRX5",
"entity_type": "gene"
},
{
"created": "2021-07-07T22:03:59.419177+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3938",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: GNB2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31698099, 33971351, 34183358; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "GNB2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:36:26.396256+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: EPHA7.",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:36:04.480592+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHA7 as ready",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:36:04.469835+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:35:35.826686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHA7 as Amber List (moderate evidence)",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:35:35.811995+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8264",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:35:16.415313+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8263",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHA7 was added\ngene: EPHA7 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: EPHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPHA7 were set to 34176129\nPhenotypes for gene: EPHA7 were set to Intellectual disability\nReview for gene: EPHA7 was set to AMBER\nAdded comment: Lévy et al (2021 - PMID: 34176129) provide evidence that haploinssuficiency of EPHA7 results in a neurodevelopmental disorder.\r\n\r\nThe authors report on 12 individuals belonging to 9 unrelated families, all harboring with 6q microdeletions spanning EPHA7. \r\n\r\nOverlapping features included DD (13/13), ID (10/10 - mild in most cases, individuals with larger CNVs/additional variants had more severe phenotype), speech delay and behavioral disorders. Variable other features incl. hypotonia (70%), non specific facial features, eye abnormalities (40%) and cardiac defects (25%).\r\n\r\nThe CNVs ranged from 152 kb to few Mb in size but in 4 subjects (P5-8) were only minimal, involving only EPHA7.\r\n\r\n9 out of 12 individuals had inherited the deletion (5 subjects paternal, 4 maternal), in 1 subject (P12) this occured de novo, while for 2 others inheritance was not specified. Most deletions were inherited from an unaffected parent (in 6/7 families), with unclear contribution in a further one.\r\n\r\nThe authors discuss on previous studies suggesting an important role for EphA7 in brain development (modulation of cell-cell adhesion and repulsion, regulation of dendrite morphogenesis in early corticogenesis, role in dendritic spine formation later in development. EphA7 has also been proposed to drive neuronal maturation and synaptic function). \r\n\r\nHaploinsufficiency for other ephrins or ephrin receptors has been implicated in other NDDs.\r\n\r\nOverall Lévy et al promote incomplete penetrance and variable expressivity with haploinsufficiency of this gene being a risk factor for NDD. [The gene has also an %HI of 2.76% and a pLI of 1]. \nSources: Expert Review",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:34:45.757783+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EPHA7 as ready",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:34:45.744543+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:34:17.793620+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: EPHA7 as Amber List (moderate evidence)",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:34:17.784609+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3938",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: epha7 has been classified as Amber List (Moderate Evidence).",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:33:37.513658+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3937",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: EPHA7 was added\ngene: EPHA7 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nSV/CNV tags were added to gene: EPHA7.\nMode of inheritance for gene: EPHA7 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: EPHA7 were set to 34176129\nPhenotypes for gene: EPHA7 were set to Intellectual disability\nReview for gene: EPHA7 was set to AMBER\nAdded comment: Lévy et al (2021 - PMID: 34176129) provide evidence that haploinssuficiency of EPHA7 results in a neurodevelopmental disorder.\r\n\r\nThe authors report on 12 individuals belonging to 9 unrelated families, all harboring with 6q microdeletions spanning EPHA7. \r\n\r\nOverlapping features included DD (13/13), ID (10/10 - mild in most cases, individuals with larger CNVs/additional variants had more severe phenotype), speech delay and behavioral disorders. Variable other features incl. hypotonia (70%), non specific facial features, eye abnormalities (40%) and cardiac defects (25%).\r\n\r\nThe CNVs ranged from 152 kb to few Mb in size but in 4 subjects (P5-8) were only minimal, involving only EPHA7.\r\n\r\n\r\n\r\n9 out of 12 individuals had inherited the deletion (5 subjects paternal, 4 maternal), in 1 subject (P12) this occured de novo, while for 2 others inheritance was not specified. Most deletions were inherited from an unaffected parent (in 6/7 families), with unclear contribution in a further one.\r\n\r\nThe authors discuss on previous studies suggesting an important role for EphA7 in brain development (modulation of cell-cell adhesion and repulsion, regulation of dendrite morphogenesis in early corticogenesis, role in dendritic spine formation later in development. EphA7 has also been proposed to drive neuronal maturation and synaptic function). \r\n\r\nHaploinsufficiency for other ephrins or ephrin receptors has been implicated in other NDDs.\r\n\r\nOverall Lévy et al promote incomplete penetrance and variable expressivity with haploinsufficiency of this gene being a risk factor for NDD. [The gene has also an %HI of 2.76% and a pLI of 1]. \nSources: Literature",
"entity_name": "EPHA7",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:26:31.981869+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1 as ready",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:26:31.972489+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1 has been classified as Green List (High Evidence).",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:26:23.936008+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: DNM1 as ready",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:26:23.925223+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: dnm1 has been classified as Green List (High Evidence).",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:26:16.968911+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8262",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:25:59.724026+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8261",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNM1 were set to ",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:25:39.636880+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8260",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:25:18.201803+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:25:13.048424+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3936",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:24:30.057326+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3935",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNM1 were set to ",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:24:19.562408+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PDIA6 as ready",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:24:19.551562+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:23:50.846447+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3934",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:23:25.889864+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1127",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DNM1 were changed from to Developmental and epileptic encephalopathy 31, OMIM:616346",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:23:13.285241+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3933",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:23:00.052355+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1126",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: DNM1 were set to ",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:22:29.060000+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1125",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: DNM1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:11:35.127497+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: B9D2 as ready",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:11:35.118022+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:11:24.010357+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: B9D2 were changed from to Meckel syndrome 10, MIM# 614175",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:10:59.442749+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.198",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: B9D2 were set to ",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:10:21.002393+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.197",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: B9D2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:06:52.998760+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: B9D2 as Amber List (moderate evidence)",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:06:52.989553+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.196",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: b9d2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:06:15.207205+10:00",
"panel_name": "Renal Ciliopathies and Nephronophthisis",
"panel_id": 193,
"panel_version": "0.195",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: B9D2: Rating: AMBER; Mode of pathogenicity: None; Publications: 21763481; Phenotypes: Meckel syndrome 10, MIM# 614175; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "B9D2",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:00:46.214869+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PDIA6 as Amber List (moderate evidence)",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:00:46.206277+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pdia6 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-07-07T20:00:18.137585+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PDIA6 was added\ngene: PDIA6 was added to Ciliopathies. Sources: Expert Review\nMode of inheritance for gene: PDIA6 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PDIA6 were set to 33495992\nPhenotypes for gene: PDIA6 were set to Asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes\nReview for gene: PDIA6 was set to AMBER\nAdded comment: 1 case with asphyxiating thoracic dystrophy (ATD) syndrome and infantile‐onset diabetes. Whole exome sequencing revealed a homozygous frameshift variant in the PDIA6 gene. RNA expression was reduced in a gene dosage‐dependent manner, supporting a loss‐of‐function effect of this variant. Phenotypic correlation with the previously reported mouse model recapitulated the growth defect and delay, early lethality, coagulation, diabetes, immunological, and polycystic kidney disease phenotypes. The phenotype of the current patient is consistent with phenotypes associated with the disruption of PDIA6 and the sensors of UPR in mice and humans. \nSources: Expert Review",
"entity_name": "PDIA6",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:57:52.064405+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRK2 as ready",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:57:52.053913+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:57:46.840766+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK2 as Amber List (moderate evidence)",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:57:46.831221+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:57:21.911705+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-07T19:56:18.671425+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.1",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRK2 was added\ngene: GRK2 was added to Ciliopathies. Sources: Literature\nMode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRK2 were set to 33200460\nPhenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)\nReview for gene: GRK2 was set to AMBER\nAdded comment: Two unrelated families reported and some functional data. \nSources: Literature",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:54:53.224410+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1124",
"user_name": "Arina Puzriakova",
"item_type": "entity",
"text": "reviewed gene: DNM1: Rating: GREEN; Mode of pathogenicity: None; Publications: 25262651, 27066543, 33372033, 34172529; Phenotypes: Developmental and epileptic encephalopathy 31, OMIM:616346; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "DNM1",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:42:01.450145+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRK2 as ready",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:42:01.440235+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:41:35.289537+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK2 as Amber List (moderate evidence)",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:41:35.280722+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8259",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:41:00.208412+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8258",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRK2 was added\ngene: GRK2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRK2 were set to 33200460\nPhenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)\nReview for gene: GRK2 was set to AMBER\nAdded comment: Two unrelated families reported and some functional data. \nSources: Literature",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:39:58.319367+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GRK2 as ready",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:39:58.309733+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:39:52.481026+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GRK2 as Amber List (moderate evidence)",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:39:52.471551+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.107",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: grk2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:38:40.405474+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.106",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: GRK2 was added\ngene: GRK2 was added to Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy. Sources: Literature\nMode of inheritance for gene: GRK2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: GRK2 were set to 33200460\nPhenotypes for gene: GRK2 were set to Jeune asphyxiating thoracic dystrophy (ATD)\nReview for gene: GRK2 was set to AMBER\nAdded comment: Two unrelated families reported and some functional data. \nSources: Literature",
"entity_name": "GRK2",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:34:36.322705+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR19 as ready",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:34:36.312462+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:34:33.166885+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.105",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR19 were changed from to Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:34:04.644740+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.104",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR19 were set to ",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:33:34.561847+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.103",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:32:34.214762+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: WDR19 as Amber List (moderate evidence)",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:32:34.205874+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.102",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr19 has been classified as Amber List (Moderate Evidence).",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T19:32:05.813876+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR19: Rating: AMBER; Mode of pathogenicity: None; Publications: 22019273; Phenotypes: Short-rib thoracic dysplasia 5 with or without polydactyly, MIM# 614376; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR19",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:44:09.667504+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.0",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "promoted panel to version 1.0",
"entity_name": null,
"entity_type": null
},
{
"created": "2021-07-07T18:42:41.872131+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR60 as ready",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:42:41.861957+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr60 has been classified as Green List (High Evidence).",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:42:38.210975+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.101",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:42:03.675137+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.100",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR60 were set to ",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:41:37.058960+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.99",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:41:07.075832+10:00",
"panel_name": "Short Rib Polydactyly_Jeune Asphyxiating Thoracic Dystrophy_Skeletal Ciliopathy",
"panel_id": 179,
"panel_version": "0.98",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:40:19.804584+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR60 as ready",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:40:19.794485+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr60 has been classified as Green List (High Evidence).",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:40:17.654877+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:39:57.126910+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR60 were set to ",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:39:26.806104+10:00",
"panel_name": "Polydactyly",
"panel_id": 159,
"panel_version": "0.233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:38:50.315047+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR60 as ready",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:38:50.305178+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr60 has been classified as Green List (High Evidence).",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:37:03.652681+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8257",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:36:44.185703+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8256",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR60 were set to ",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:36:27.553604+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WDR60 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:36:09.355834+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.8254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: WDR60: Rating: GREEN; Mode of pathogenicity: None; Publications: 23910462, 29271569, 26874042; Phenotypes: Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503, Retinitis pigmentosa; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:35:20.106911+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WDR60 as ready",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:35:20.097084+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wdr60 has been classified as Green List (High Evidence).",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:35:16.997974+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.450",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WDR60 were changed from to Short-rib thoracic dysplasia 8 with or without polydactyly, MIM# 615503; Retinitis pigmentosa",
"entity_name": "WDR60",
"entity_type": "gene"
},
{
"created": "2021-07-07T18:34:54.674897+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.449",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WDR60 were set to ",
"entity_name": "WDR60",
"entity_type": "gene"
}
]
}