HTTP 200 OK
Allow: GET, HEAD, OPTIONS
Content-Type: application/json
Vary: Accept
{
"count": 221304,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1659",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1657",
"results": [
{
"created": "2020-08-24T17:22:58.576455+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TMX2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:22:28.536258+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TMX2 as ready",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:22:28.525710+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:22:00.851352+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TMX2 as Green List (high evidence)",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:22:00.842589+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.93",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tmx2 has been classified as Green List (High Evidence).",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:17:15.797450+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ACTB as ready",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:17:15.782430+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: actb has been classified as Green List (High Evidence).",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:17:12.988810+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.52",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ACTB were changed from to Baraitser-Winter syndrome 1 (MIM#243310)",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:16:18.551427+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.51",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ACTB were set to ",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:15:58.473094+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.50",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: ACTB was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:15:17.624782+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VLDLR as ready",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:15:17.614118+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vldlr has been classified as Green List (High Evidence).",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:14:39.677138+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.49",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VLDLR were changed from to Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050)",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:14:23.587235+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.48",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VLDLR were set to ",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-24T17:13:41.435107+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.47",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VLDLR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-24T16:28:52.578077+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.10",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428). \r\n\r\nHowever in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.\r\n\r\nAlthough I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence'). \nSources: Literature; to: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428). \r\n\r\nHowever in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular heterotopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.\r\n\r\nAlthough I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence'). \r\nSources: Literature",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2020-08-24T16:28:38.274177+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.10",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TMTC3 was added\ngene: TMTC3 was added to Periventricular Grey Matter Heterotopia. Sources: Literature\nMode of inheritance for gene: TMTC3 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMTC3 were set to 27773428; 28973161\nPhenotypes for gene: TMTC3 were set to Lissencephaly 8 (MIM#617255)\nReview for gene: TMTC3 was set to RED\ngene: TMTC3 was marked as current diagnostic\nAdded comment: Mostly associated with cobblestone lissencephaly in (6 unrelated families with biallelic variants, PMID: 27773428). \r\n\r\nHowever in 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.\r\n\r\nAlthough I thought it worth having this gene on this panel I have rated it Red as it is a single family reported with this phenotype, with not all members affected, and it is a different phenotype to that reported previously (i.e. very much 'low evidence'). \nSources: Literature",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2020-08-24T16:28:27.420793+10:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.5",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: Associated with cobblestone lissencephaly in 6 unrelated families with biallelic variants (PMID: 27773428). Most affected individuals also showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly.\r\n\r\nIn 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.; to: Associated with cobblestone lissencephaly in 6 unrelated families with biallelic variants (PMID: 27773428). Most affected individuals also showed brainstem and cerebellum hypoplasia, as well as ventriculomegaly. One individual had polymicrogyria.\r\n\r\nIn 3/4 siblings of another family (PMID: 28973161) biallelic variants were not associated with cobblestone lissencephaly, but periventricular hetertopia instead. The 4th sibling had a normal brain. Animal model studies (Drosophila and rat) support a role for this gene in neurodevelopment.",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2020-08-24T16:24:24.998885+10:00",
"panel_name": "Cobblestone Malformations",
"panel_id": 6,
"panel_version": "0.5",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TMTC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 27773428, 28973161; Phenotypes: Lissencephaly 8 (MIM#617255); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TMTC3",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:56:22.569057+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Marked gene: ABL1 as ready",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:56:22.559144+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:56:10.972951+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.41",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Publications for gene: ABL1 were set to 28288113",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:55:46.697733+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Classified gene: ABL1 as Green List (high evidence)",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:55:46.689048+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.40",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "Gene: abl1 has been classified as Green List (High Evidence).",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:55:20.593828+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.39",
"user_name": "Bryony Thompson",
"item_type": "entity",
"text": "reviewed gene: ABL1: Rating: GREEN; 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: 28288113, 30855488, 32643838; Phenotypes: Congenital heart defects and skeletal malformations syndrome MIM#617602; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ABL1",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:39:05.213871+10:00",
"panel_name": "Tubulinopathies",
"panel_id": 21,
"panel_version": "0.9",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: TUBGCP4: Rating: RED; Mode of pathogenicity: None; Publications: 25817018, 32270730; Phenotypes: Microcephaly and chorioretinopathy, autosomal recessive, 3 (MIM#616335); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "TUBGCP4",
"entity_type": "gene"
},
{
"created": "2020-08-24T15:17:28.904118+10:00",
"panel_name": "Periventricular Grey Matter Heterotopia",
"panel_id": 19,
"panel_version": "0.10",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ARFGEF2: Rating: GREEN; Mode of pathogenicity: None; Publications: 25160555, 26126837, 23812912; Phenotypes: Periventricular heterotopia with microcephaly (MIM#608097); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ARFGEF2",
"entity_type": "gene"
},
{
"created": "2020-08-24T14:25:56.880828+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.92",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "changed review comment from: PMID: 28969385;\r\n- 15/20 patients with constitutional mutation in AKT3 presented with polymicrogyria; to: PMID: 28969385;\r\n- 15/20 patients with constitutional mutation in AKT3 presented with polymicrogyria\r\n- de novo and missense",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-24T14:24:52.378602+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.92",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: AKT3: Rating: GREEN; Mode of pathogenicity: None; Publications: 28969385; Phenotypes: Megalencephaly-polymicrogyria-polydactyly-hydrocephalus syndrome 2 (MIM#615937); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "AKT3",
"entity_type": "gene"
},
{
"created": "2020-08-24T14:07:48.136364+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.56",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "edited their review of gene: TBX1: Changed rating: GREEN",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2020-08-24T14:07:38.825185+10:00",
"panel_name": "Congenital Heart Defect",
"panel_id": 76,
"panel_version": "0.56",
"user_name": "Crystle Lee",
"item_type": "entity",
"text": "reviewed gene: TBX1: Rating: AMBER; Mode of pathogenicity: Other; Publications: 31428446, 32110744, 29250159, 30137364, 24998776, 28272434; Phenotypes: DiGeorge syndrome (MIM#188400); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "TBX1",
"entity_type": "gene"
},
{
"created": "2020-08-24T13:46:19.144612+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.92",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: SMO was added\ngene: SMO was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: SMO was set to Unknown\nPublications for gene: SMO were set to 27236920; 24859340\nPhenotypes for gene: SMO were set to Curry-Jones syndrome, somatic mosaic MIM#601707\nMode of pathogenicity for gene: SMO was set to Loss-of-function variants (as defined in pop up message) DO NOT cause this phenotype - please provide details in the comments\nReview for gene: SMO was set to AMBER\ngene: SMO was marked as current diagnostic\nAdded comment: PMID 27236920 summarises the clinical and molecular findings in 8 unrelated individuals (including individuals reported previously). All 8 had the same somatic mosaic missense variant c.1234C>T p.(Leu412Phe) (absent from gnomAD). 2 had polymicrogyria. Other brain abnormalities reported include agenesis of the corpus callosum, hemimegalencephaly, ventriculomegaly. 1 individual was reported to have a normal brain.\r\n\r\nIn mouse embryonic fibroblasts, this variant results in constitutive activation (PMID: 24859340).\r\n\r\nOther, biallelic germline variants in this gene are associated with Pallister-Hall-like syndrome (MIM#241800) but the MRI findings in individuals with this syndrome don't appear to be applicable to this panel. \nSources: Literature",
"entity_name": "SMO",
"entity_type": "gene"
},
{
"created": "2020-08-24T12:59:21.623228+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ACTG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 29671837, 27240540, 25052316; Phenotypes: Baraitser-Winter syndrome 2 (MIM#614583); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTG1",
"entity_type": "gene"
},
{
"created": "2020-08-24T12:55:02.881817+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.46",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TMX2 was added\ngene: TMX2 was added to Lissencephaly and Band Heterotopia. Sources: Literature\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31735293; 31586943\nPhenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730\nReview for gene: TMX2 was set to AMBER\ngene: TMX2 was marked as current diagnostic\nAdded comment: Summary: 14 families reported with biallelic variants and neurodevelopmental disorder, but individuals from 5 families had pachygyria/lissencephaly, and 4 of those families shared the same variant.\r\n\r\nPMID 31735293: 2 unrelated individuals (out of 14 total from 10 families) with biallelic variants had pachygyria on MRI. Other individuals had brain atrophy or polymicrogyria. One individual had a normal MRI.\r\n\r\nPMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly. This variant was also identified in one individual from PMID 31735293, who had polymicrogyria. \nSources: Literature",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T12:51:54.483025+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.92",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "changed review comment from: PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.\r\n\r\nPMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria. \nSources: Literature; to: Summary: 14 families reported with biallelic variants and neurodevelopmental disorder, but individuals from 5 families had polymicrogyria.\r\n\r\nPMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.\r\n\r\nPMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria. \r\nSources: Literature",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T12:50:14.052655+10:00",
"panel_name": "Polymicrogyria and Schizencephaly",
"panel_id": 18,
"panel_version": "0.92",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "gene: TMX2 was added\ngene: TMX2 was added to Polymicrogyria and Schizencephaly. Sources: Literature\nMode of inheritance for gene: TMX2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: TMX2 were set to 31735293; 31586943\nPhenotypes for gene: TMX2 were set to Neurodevelopmental disorder with microcephaly, cortical malformations, and spasticity MIM#618730\nReview for gene: TMX2 was set to AMBER\ngene: TMX2 was marked as current diagnostic\nAdded comment: PMID 31735293: 5 unrelated individuals (out of 14 total from 10 families) with biallelic variants had polymicrogyria on MRI. Other individuals had brain atrophy or pachygyria. One individual had a normal MRI.\r\n\r\nPMID 31586943: 8 individuals from 4 families had the same homozygous missense variant (10 heterozygotes in gnomAD.). All of the individuals had lissencephaly, NOT polymycrogyria. This variant was also identified in one individual from PMID 31735293, who did have polymicrogyria. \nSources: Literature",
"entity_name": "TMX2",
"entity_type": "gene"
},
{
"created": "2020-08-24T12:43:27.044300+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.46",
"user_name": "Ain Roesley",
"item_type": "entity",
"text": "reviewed gene: ACTB: Rating: GREEN; Mode of pathogenicity: None; Publications: 29671837, 22366783; Phenotypes: Baraitser-Winter syndrome 1 (MIM#243310); Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "ACTB",
"entity_type": "gene"
},
{
"created": "2020-08-24T11:35:44.124708+10:00",
"panel_name": "Lissencephaly and Band Heterotopia",
"panel_id": 15,
"panel_version": "0.46",
"user_name": "Paul De Fazio",
"item_type": "entity",
"text": "reviewed gene: VLDLR: Rating: GREEN; Mode of pathogenicity: None; Publications: 16080122, 18364738, 18326629, 22700954, 22973972; Phenotypes: Cerebellar hypoplasia and mental retardation with or without quadrupedal locomotion 1 (MIM#224050); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "VLDLR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:45:16.407112+10:00",
"panel_name": "Malformations of cortical development",
"panel_id": 3136,
"panel_version": "0.110",
"user_name": "Zornitza Stark",
"item_type": "panel",
"text": "Panel types changed to Victorian Clinical Genetics Services; Royal Melbourne Hospital; Rare Disease",
"entity_name": null,
"entity_type": null
},
{
"created": "2020-08-23T21:35:21.163811+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: QDPR as ready",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:35:21.147692+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: qdpr has been classified as Green List (High Evidence).",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:35:17.929028+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.83",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: QDPR were changed from to Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:34:57.223191+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.82",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: QDPR were set to ",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:34:33.928236+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.81",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: QDPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:34:06.628415+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: QDPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 11153907; Phenotypes: Hyperphenylalaninemia, BH4-deficient, C, MIM# 261630; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "QDPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:32:29.299216+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GLRA1 as ready",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:32:29.289121+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: glra1 has been classified as Green List (High Evidence).",
"entity_name": "GLRA1",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:32:02.993289+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TH as ready",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:32:02.983393+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: th has been classified as Green List (High Evidence).",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:32:00.470034+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.80",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TH were changed from to Segawa syndrome, recessive , MIM#605407",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:31:44.229330+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.79",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TH were set to ",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:31:17.852818+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.78",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TH was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:30:53.523356+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TH: Rating: GREEN; Mode of pathogenicity: None; Publications: 17696123, 11246459, 10585338; Phenotypes: Segawa syndrome, recessive , MIM#605407; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TH",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:28:42.093623+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPR as ready",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:28:42.085085+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spr has been classified as Green List (High Evidence).",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:28:39.602897+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.77",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPR were changed from to Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:28:22.761146+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SPR were set to ",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:28:01.492223+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.75",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SPR was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:27:33.716543+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SPR: Rating: GREEN; Mode of pathogenicity: None; Publications: 22522443; Phenotypes: Dystonia, dopa-responsive, due to sepiapterin reductase deficiency 612716; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SPR",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:26:16.034942+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A5 as ready",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:26:16.024124+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a5 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:26:12.891883+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.74",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A5 were changed from to Hyperekplexia 3, MIM# 614618",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:25:52.270703+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.73",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A5 were set to ",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:25:35.649637+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.72",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A5 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:25:07.304277+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A5: Rating: GREEN; Mode of pathogenicity: None; Publications: 16751771; Phenotypes: Hyperekplexia 3, MIM# 614618; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "SLC6A5",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:23:38.540833+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A3 as ready",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:23:38.532259+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:23:30.368250+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3914",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:23:15.708276+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3913",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A3 were set to ",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:22:59.564403+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3912",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:21:46.197072+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A3 as ready",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:21:46.186875+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:21:38.871266+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.3911",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:21:37.730141+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A3 were changed from Parkinsonism-dystonia, infantile, 1, MIM# 613135 to Parkinsonism-dystonia, infantile, 1, MIM# 613135",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:21:23.936801+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:20:44.665495+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A3 were set to ",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:20:25.857865+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.34",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:19:57.556648+10:00",
"panel_name": "Early-onset Parkinson disease",
"panel_id": 26,
"panel_version": "0.33",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:19:31.034839+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC6A3 as ready",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:19:31.010135+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc6a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:19:16.667957+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.71",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC6A3 were changed from to Parkinsonism-dystonia, infantile, 1, MIM# 613135",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:18:59.346241+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.70",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC6A3 were set to ",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:18:39.066290+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.69",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC6A3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:18:11.310400+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC6A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 21112253; Phenotypes: Parkinsonism-dystonia, infantile, 1, MIM# 613135; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC6A3",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:15:06.831786+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC25A22 as ready",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-23T21:15:06.821648+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:18:37.002242+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.68",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC25A22 were changed from to Epileptic encephalopathy, early infantile, 3, MIM# 609304",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:18:14.675130+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.67",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: SLC25A22 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:17:53.258497+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC25A22 as Red List (low evidence)",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:17:53.250747+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.66",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc25a22 has been classified as Red List (Low Evidence).",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:17:30.570220+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC25A22: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Epileptic encephalopathy, early infantile, 3, MIM# 609304; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC25A22",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:15:36.126872+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PTS as ready",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:15:36.117561+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pts has been classified as Green List (High Evidence).",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:15:31.742030+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.65",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PTS were changed from to Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:15:04.236177+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.64",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: PTS were set to ",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:14:38.458719+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.63",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: PTS was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-08-23T20:14:05.298970+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: PTS: Rating: GREEN; Mode of pathogenicity: None; Publications: 9222755; Phenotypes: Hyperphenylalaninemia, BH4-deficient, A, MIM# 261640; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "PTS",
"entity_type": "gene"
},
{
"created": "2020-08-23T19:06:11.795290+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PNPO as ready",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2020-08-23T19:06:11.785377+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: pnpo has been classified as Green List (High Evidence).",
"entity_name": "PNPO",
"entity_type": "gene"
},
{
"created": "2020-08-23T19:05:50.913265+10:00",
"panel_name": "Neurotransmitter Defects",
"panel_id": 145,
"panel_version": "0.62",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PNPO were changed from to Pyridoxamine 5'-phosphate oxidase deficiency, MIM# 610090",
"entity_name": "PNPO",
"entity_type": "gene"
}
]
}