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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1804",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1802",
"results": [
{
"created": "2020-05-08T15:31:05.001864+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: WNT10A as ready",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-05-08T15:31:04.991454+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: wnt10a has been classified as Green List (High Evidence).",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-05-08T15:31:02.863371+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.4",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: WNT10A were changed from to Odontoonychodermal dysplasia 257980 AR; Schopf-Schulz-Passarge syndrome 224750 AR; Tooth agenesis, selective, 4 150400 AR, AD",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-05-08T15:30:16.815341+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.3",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: WNT10A were set to ",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-05-08T15:29:52.141359+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.2",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: WNT10A was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-05-08T13:33:58.170240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: EGR2 as ready",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-05-08T13:33:58.156221+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: egr2 has been classified as Green List (High Evidence).",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-05-08T13:33:50.301402+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2781",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: EGR2 were changed from to Charcot-Marie-Tooth disease, type 1D 607678 AD; Dejerine-Sottas disease 145900 AD, AR; Hypomyelinating neuropathy, congenital, 1 605253 AD, AR",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-05-08T13:33:31.511165+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2780",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: EGR2 were set to ",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-05-08T13:33:11.812247+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2779",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of pathogenicity for gene: EGR2 was changed from to Other",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-05-08T13:32:53.499694+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2778",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: EGR2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-05-08T13:32:32.359547+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: EGR2: Rating: GREEN; Mode of pathogenicity: Other; Publications: 11523566, 31852952; Phenotypes: Charcot-Marie-Tooth disease, type 1D 607678 AD, Dejerine-Sottas disease 145900 AD, AR, Hypomyelinating neuropathy, congenital, 1 605253 AD, AR; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "EGR2",
"entity_type": "gene"
},
{
"created": "2020-05-08T12:43:32.781611+10:00",
"panel_name": "Oligodontia",
"panel_id": 148,
"panel_version": "0.1",
"user_name": "Michelle Torres",
"item_type": "entity",
"text": "reviewed gene: WNT10A: Rating: GREEN; Mode of pathogenicity: None; Publications: 19559398, 30426266; Phenotypes: Odontoonychodermal dysplasia 257980 AR, Schopf-Schulz-Passarge syndrome 224750 AR, Tooth agenesis, selective, 4 150400 AR, AD; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "WNT10A",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:30:35.081713+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: GAS2L2 as ready",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:30:35.072902+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:30:25.285882+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2777",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: GAS2L2 were changed from to Ciliary dyskinesia, primary, 41 (MIM # 618449)",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:30:02.826727+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2776",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: GAS2L2 were set to ",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:29:31.614469+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2775",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: GAS2L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:29:11.140382+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: GAS2L2 as Amber List (moderate evidence)",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:29:11.126658+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2774",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: gas2l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:28:51.952782+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: GAS2L2: Rating: AMBER; Mode of pathogenicity: None; Publications: 30665704; Phenotypes: Ciliary dyskinesia, primary, 41 (MIM # 618449); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "GAS2L2",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:25:27.435121+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2629",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAM22 was added\ngene: ADAM22 was added to Intellectual disability syndromic and non-syndromic. Sources: Expert Review\nMode of inheritance for gene: ADAM22 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAM22 were set to 27066583; 30237576\nPhenotypes for gene: ADAM22 were set to Epileptic encephalopathy, early infantile, 61, MIM#\t617933\nReview for gene: ADAM22 was set to AMBER\nAdded comment: Two families reported; the second one as part of a large consanguineous cohort. \nSources: Expert Review",
"entity_name": "ADAM22",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:14:38.712136+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLB as ready",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:14:38.673269+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klb has been classified as Green List (High Evidence).",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:14:26.289919+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLB as Green List (high evidence)",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:14:26.281357+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.28",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klb has been classified as Green List (High Evidence).",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:13:56.347796+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.27",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLB was added\ngene: KLB was added to Disorders of Sex Differentiation. Sources: Literature\nMode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLB were set to 28754744\nPhenotypes for gene: KLB were set to Hypogonadotropic hypogonadism\nReview for gene: KLB was set to GREEN\nAdded comment: Seven heterozygous loss‐of‐function KLB mutations in 13 individuals reported. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21. Functional analysis showed decreased activity in response to FGF21 and FGF8. KLB is an obligate coreceptor for FGF21 alongside FGFR1. \nSources: Literature",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:13:02.053711+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: KLB as ready",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:13:02.042467+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klb has been classified as Green List (High Evidence).",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:12:43.114542+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2773",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: KLB were changed from to Hypogonadotropic hypogonadism",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:11:45.460774+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: KLB as Green List (high evidence)",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:11:45.447560+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2772",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: klb has been classified as Green List (High Evidence).",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:11:18.452263+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2771",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: KLB was added\ngene: KLB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KLB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KLB were set to 28754744\nReview for gene: KLB was set to GREEN\nAdded comment: Seven heterozygous loss‐of‐function KLB mutations in 13 individuals reported. In mice, lack of Klb led to delayed puberty, altered estrous cyclicity, and subfertility due to a hypothalamic defect associated with inability of GnRH neurons to release GnRH in response to FGF21.\r\nFunctional analysis showed decreased activity in response to FGF21 and FGF8.\r\nKLB is an obligate coreceptor for FGF21 alongside FGFR1. \nSources: Literature",
"entity_name": "KLB",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:08:19.661231+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDNF as ready",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:08:19.649244+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Green List (High Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:07:54.898712+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDNF as Green List (high evidence)",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:07:54.886682+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.26",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Green List (High Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:07:25.268277+10:00",
"panel_name": "Disorders of Sex Differentiation",
"panel_id": 99,
"panel_version": "0.25",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDNF was added\ngene: NDNF was added to Disorders of Sex Differentiation. Sources: Literature\nMode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NDNF were set to 31883645\nPhenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH)\nReview for gene: NDNF was set to GREEN\nAdded comment: Three heterozygous protein-truncating variants and one heterozygous missense variant identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models. \nSources: Literature",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:04:47.378241+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: NDNF as ready",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:04:47.369386+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Green List (High Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:04:37.107059+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: NDNF as Green List (high evidence)",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:04:37.093656+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2770",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ndnf has been classified as Green List (High Evidence).",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T20:04:17.429129+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2769",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: NDNF was added\ngene: NDNF was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: NDNF was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: NDNF were set to 31883645\nPhenotypes for gene: NDNF were set to Congenital hypogonadotropic hypogonadism (CHH)\nReview for gene: NDNF was set to GREEN\nAdded comment: Three heterozygous protein-truncating variants and one heterozygous missense variant identified in a cohort of 240 unrelated IHH patients. The authors also provided supporting evidence from animal models. \nSources: Literature",
"entity_name": "NDNF",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:56:57.316791+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGDH as ready",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:56:57.308031+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugdh has been classified as Green List (High Evidence).",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:56:44.215497+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGDH as Green List (high evidence)",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:56:44.206609+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2768",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugdh has been classified as Green List (High Evidence).",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:56:23.497176+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2767",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UGDH was added\ngene: UGDH was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: UGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGDH were set to 32001716\nPhenotypes for gene: UGDH were set to Epileptic encephalopathy, early infantile, 84 - MIM #618792\nReview for gene: UGDH was set to GREEN\nAdded comment: 36 individuals with biallelic UGDH pathogenic variants reported. The phenotype corresponded overall to a developmental epileptic encephalopathy with hypotonia, feeding difficulties, severe global DD, moderate or commonly severe ID in all. Hypotonia and motor disorder (incl. spasticity, dystonia, ataxia, chorea, etc) often occurred prior to the onset of seizures. A single individual did not present seizures and 2 sibs had only seizures in the setting of fever. There were no individuals with biallelic pLoF variants identified. Parental/sib studies were all compatible with AR inheritance mode.\r\n\r\nUGDH encodes the enzyme UDP-glucose dehydrogenase which converts UDP-glucose to UDP-glucuronate, the latter being a critical component of the glycosaminoglycans, hyaluronan, chondroitin sulfate, and heparan sulfate. Patient fibroblast and biochemical assays suggested a LoF effect of variants leading to impairment of UGDH stability, oligomerization or enzymatic activity (decreased UGDH-catalyzed reduction of NAD+ to NADH / hyaluronic acid production which requires UDP-glucuronate).\r\n\r\nAttempts to model the disorder using an already developped zebrafish model (for a hypomorphic LoF allele) were unsuccessful as fish did not exhibit seizures spontaneously or upon induction with PTZ. Modelling of the disorder in vitro using patient-derived cerebral organoids demonstrated smaller organoids due to reduced number of proliferating neural progenitors \nSources: Literature",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:53:24.425364+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGDH as ready",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:53:24.416160+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugdh has been classified as Green List (High Evidence).",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:53:02.797770+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGDH as Green List (high evidence)",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:53:02.787208+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2628",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugdh has been classified as Green List (High Evidence).",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:52:18.973918+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UGDH as ready",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:52:18.960355+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugdh has been classified as Green List (High Evidence).",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:52:14.248960+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UGDH as Green List (high evidence)",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:52:14.240329+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.695",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: ugdh has been classified as Green List (High Evidence).",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:41:38.972351+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TRIM33 as ready",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:41:38.959677+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim33 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:41:28.865240+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TRIM33 as Red List (low evidence)",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:41:28.854445+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2766",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: trim33 has been classified as Red List (Low Evidence).",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:41:03.853282+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TRIM33: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None",
"entity_name": "TRIM33",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:40:08.393718+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ADAMTS9 as ready",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:40:08.384695+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts9 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:39:49.476204+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ADAMTS9 as Green List (high evidence)",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:39:49.462835+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.133",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: adamts9 has been classified as Green List (High Evidence).",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:39:19.135043+10:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "0.132",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ADAMTS9 was added\ngene: ADAMTS9 was added to Ciliopathies. Sources: Expert list\nMode of inheritance for gene: ADAMTS9 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ADAMTS9 were set to 30609407\nPhenotypes for gene: ADAMTS9 were set to Nephronophthisis-Related Ciliopathy\nReview for gene: ADAMTS9 was set to GREEN\nAdded comment: Two families reported with functional evidence. \nSources: Expert list",
"entity_name": "ADAMTS9",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:13:49.213336+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.694",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: UGDH was added\ngene: UGDH was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: UGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGDH were set to 32001716\nPhenotypes for gene: UGDH were set to Epileptic encephalopathy, early infantile, 84 - MIM #618792\nPenetrance for gene: UGDH were set to Complete\nReview for gene: UGDH was set to GREEN\nAdded comment: Hengel et al (2020 - PMID: 32001716) report on 36 individuals with biallelic UGDH pathogenic variants. \r\n\r\nThe phenotype corresponded overall to a developmental epileptic encephalopathy with hypotonia, feeding difficulties, severe global DD, moderate or commonly severe ID in all. Hypotonia and motor disorder (incl. spasticity, dystonia, ataxia, chorea, etc) often occurred prior to the onset of seizures. A single individual did not present seizures and 2 sibs had only seizures in the setting of fever. \r\n\r\nAffected subjects were tested by exome sequencing and UGDH variants were the only/best candidates for the phenotype following also segregation studies. Many were compound heterozygous or homozygous (~6 families were consanguineous) for missense variants and few were compound heterozygous for missense and pLoF variants. There were no individuals with biallelic pLoF variants identified. Parental/sib studies were all compatible with AR inheritance mode. \r\n\r\nUGDH encodes the enzyme UDP-glucose dehydrogenase which converts UDP-glucose to UDP-glucuronate, the latter being a critical component of the glycosaminoglycans, hyaluronan, chondroitin sulfate, and heparan sulfate [OMIM]. \r\n\r\nPatient fibroblast and biochemical assays suggested a LoF effect of variants leading to impairment of UGDH stability, oligomerization or enzymatic activity (decreased UGDH-catalyzed reduction of NAD+ to NADH / hyaluronic acid production which requires UDP-glucuronate). \r\n\r\nAttempts to model the disorder using an already developped zebrafish model (for a hypomorphic LoF allele) were unsuccessful as fish did not exhibit seizures spontaneously or upon induction with PTZ. \r\n\r\nModelling of the disorder in vitro using patient-derived cerebral organoids demonstrated smaller organoids due to reduced number of proliferating neural progenitors. \nSources: Literature",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T19:10:39.734328+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2627",
"user_name": "Konstantinos Varvagiannis",
"item_type": "entity",
"text": "gene: UGDH was added\ngene: UGDH was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: UGDH were set to 32001716\nPhenotypes for gene: UGDH were set to Epileptic encephalopathy, early infantile, 84 - MIM #618792\nPenetrance for gene: UGDH were set to Complete\nReview for gene: UGDH was set to GREEN\nAdded comment: Hengel et al (2020 - PMID: 32001716) report on 36 individuals with biallelic UGDH pathogenic variants. \r\n\r\nThe phenotype corresponded overall to a developmental epileptic encephalopathy with hypotonia, feeding difficulties, severe global DD, moderate or commonly severe ID in all. Hypotonia and motor disorder (incl. spasticity, dystonia, ataxia, chorea, etc) often occurred prior to the onset of seizures. A single individual did not present seizures and 2 sibs had only seizures in the setting of fever. \r\n\r\nAffected subjects were tested by exome sequencing and UGDH variants were the only/best candidates for the phenotype following also segregation studies. Many were compound heterozygous or homozygous (~6 families were consanguineous) for missense variants and few were compound heterozygous for missense and pLoF variants. There were no individuals with biallelic pLoF variants identified. Parental/sib studies were all compatible with AR inheritance mode. \r\n\r\nUGDH encodes the enzyme UDP-glucose dehydrogenase which converts UDP-glucose to UDP-glucuronate, the latter being a critical component of the glycosaminoglycans, hyaluronan, chondroitin sulfate, and heparan sulfate [OMIM]. \r\n\r\nPatient fibroblast and biochemical assays suggested a LoF effect of variants leading to impairment of UGDH stability, oligomerization or enzymatic activity (decreased UGDH-catalyzed reduction of NAD+ to NADH / hyaluronic acid production which requires UDP-glucuronate). \r\n\r\nAttempts to model the disorder using an already developped zebrafish model (for a hypomorphic LoF allele) were unsuccessful as fish did not exhibit seizures spontaneously or upon induction with PTZ. \r\n\r\nModelling of the disorder in vitro using patient-derived cerebral organoids demonstrated smaller organoids due to reduced number of proliferating neural progenitors. \nSources: Literature",
"entity_name": "UGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:37:24.582557+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: L2HGDH as ready",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:37:24.572969+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Green List (High Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:37:19.766018+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: L2HGDH as Green List (high evidence)",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:37:19.757273+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.116",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: l2hgdh has been classified as Green List (High Evidence).",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:37:10.185023+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: L2HGDH was added\ngene: L2HGDH was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: L2HGDH was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: L2HGDH were set to L-2-hydroxyglutaric aciduria, MIM#\t236792\nReview for gene: L2HGDH was set to GREEN\nAdded comment: Age of onset is variable, but typically in infancy/childhood. \nSources: Expert list",
"entity_name": "L2HGDH",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:30:16.823985+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN4 as ready",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:30:16.810558+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn4 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:30:10.339066+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN4 as Green List (high evidence)",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:30:10.325904+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.694",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn4 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:29:09.640418+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPTBN4 as ready",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:29:09.631623+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn4 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:29:00.615544+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPTBN4 as Green List (high evidence)",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:29:00.605462+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2627",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: sptbn4 has been classified as Green List (High Evidence).",
"entity_name": "SPTBN4",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:27:15.840417+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIF1B as ready",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:27:15.828041+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:26:59.583699+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIF1B as Green List (high evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:26:59.570215+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2765",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:26:32.320920+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.2764",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIF1B was added\ngene: YIF1B was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nReview for gene: YIF1B was set to GREEN\nAdded comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. \nSources: Literature",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:26:15.072262+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIF1B as ready",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:26:15.061483+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:25:23.529396+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIF1B as Green List (high evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:25:23.513044+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:24:51.190386+10:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: YIF1B was added\ngene: YIF1B was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098; 26077767\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nReview for gene: YIF1B was set to GREEN\nAdded comment: 6 individuals (from 5 families) with biallelic YIF1B truncating variants reported. Presenting features: hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. Affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). Functional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. \nSources: Literature",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:20:55.523171+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIF1B as ready",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:20:55.511927+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:20:50.833134+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIF1B as Amber List (moderate evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:20:50.824093+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.693",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Amber List (Moderate Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:19:15.998988+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: YIF1B as ready",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:19:15.985421+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:19:07.197507+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: YIF1B as Green List (high evidence)",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:19:07.186237+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.2626",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: yif1b has been classified as Green List (High Evidence).",
"entity_name": "YIF1B",
"entity_type": "gene"
},
{
"created": "2020-05-07T18:14:59.297110+10:00",
"panel_name": "Leukodystrophy - paediatric",
"panel_id": 298,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HEXA as ready",
"entity_name": "HEXA",
"entity_type": "gene"
}
]
}