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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1521",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1519",
"results": [
{
"created": "2020-10-30T10:06:32.720684+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LRRC32: Changed phenotypes: Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:06:10.521713+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LRRC32 were changed from Intellectual disability; cleft palate; proliferative retinopathy to Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:05:50.078285+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LRRC32: Changed phenotypes: Cleft palate, proliferative retinopathy, and developmental delay (CPPRDD) syndrome, MIM# 619074",
"entity_name": "LRRC32",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:03:20.992877+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ALPK1 as ready",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:03:20.977722+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: alpk1 has been classified as Green List (High Evidence).",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:03:18.966314+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.149",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK1 were changed from ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache to Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:03:03.250763+11:00",
"panel_name": "Syndromic Retinopathy",
"panel_id": 3099,
"panel_version": "0.148",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALPK1: Changed phenotypes: Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:02:20.625851+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALPK1: Changed phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:01:45.084626+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5191",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ALPK1 were set to 31053777",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:01:33.365386+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome ROSAH syndrome, MIM#614979 to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache (ROSAH) syndrome, MIM#614979",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:00:59.954631+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ALPK1 were changed from Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; ROSAH syndrome; retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache to Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome; Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndrome ROSAH syndrome, MIM#614979",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T10:00:31.322693+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ALPK1: Changed phenotypes: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome, Retinal dystrophy, optic nerve edema, splenomegaly, anhidrosis, and migraine headache syndromeROSAH syndrome, MIM#614979",
"entity_name": "ALPK1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:58:52.181993+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUS1 were changed from Epilepsy; intellectual disability to Mental retardation, autosomal dominant 55, with seizures, MIM# 617831",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:58:16.318938+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.894",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUS1: Changed phenotypes: Mental retardation, autosomal dominant 55, with seizures, MIM# 617831",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:57:52.782066+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3124",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUS1 were changed from Epilepsy; intellectual disability to Mental retardation, autosomal dominant 55, with seizures, MIM# 617831",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:57:13.898547+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: NUS1: Changed phenotypes: Mental retardation, autosomal dominant 55, with seizures, MIM# 617831",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:56:24.036106+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5188",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: NUS1 were changed from Epilepsy; intellectual disability to Congenital disorder of glycosylation, type 1aa 617082; Mental retardation, autosomal dominant 55, with seizures 617831",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:55:56.869583+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5187",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: NUS1 were set to 31656175; 29100083",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:55:14.521524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5186",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: NUS1 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:54:01.808247+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG8 as ready",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:54:01.793944+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog8 has been classified as Green List (High Evidence).",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:53:56.381696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3123",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, MIM# 611182",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:53:24.486422+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3122",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG8 were set to ",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:52:51.915143+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3121",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:51:55.725757+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "changed review comment from: Four unrelated families reported with bi-allelic LOF variants and a broad range of predominantly neurological features (ID, seizures, arthrogryposis, brain malformations).\r\n\r\nID present in 3/4, presentation in the 4th family was antenatal but with severe neurological phenotype that would have been expected to result in ID.; to: Four unrelated families reported with bi-allelic LOF variants and a broad range of predominantly neurological features (ID, seizures, arthrogryposis, brain malformations).\r\n\r\nID reported in 3/4, presentation in the 4th family was antenatal but with severe neurological phenotype that would have been expected to result in ID.",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:51:46.084984+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220172, 28619360, 30690882, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, MIM# 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:50:03.859592+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG8 as ready",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:50:03.851817+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog8 has been classified as Green List (High Evidence).",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:50:00.754832+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, MIM# 611182",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:49:33.368548+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG8 were set to ",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:49:05.585431+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:48:36.655626+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220172, 28619360, 30690882, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh, MIM# 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:47:16.967729+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: COG8 as ready",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:47:16.951894+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: cog8 has been classified as Green List (High Evidence).",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:47:09.442975+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5185",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: COG8 were changed from to Congenital disorder of glycosylation, type IIh, MIM# 611182",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:46:51.400344+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5184",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: COG8 were set to ",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:46:23.659983+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: None; Publications: 17220172, 28619360; Phenotypes: Congenital disorder of glycosylation, type IIh, MIM# 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:42:34.044902+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5183",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: COG8 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:41:47.369865+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HBB as ready",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:41:47.361989+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hbb has been classified as Green List (High Evidence).",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:41:39.254292+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5182",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: HBB were changed from to Delta-beta thalassemia 141749; Erythrocytosis 6 617980; Heinz body anemia 140700; Hereditary persistence of fetal hemoglobin 141749; Methemoglobinemia, beta type 617971; Sickle cell anemia 603903; Thalassemia-beta, dominant inclusion-body 603902; Thalassemia, beta 613985",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:41:13.922900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5181",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: HBB were set to ",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:40:58.638398+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5180",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: SCN8A: Rating: GREEN; Mode of pathogenicity: Other; Publications: PMID 30615093, 31904124; Phenotypes: ?Myoclonus, familial, 2 618364, Cognitive impairment with or without cerebellar ataxia 614306, Epileptic encephalopathy, early infantile, 13 614558, Seizures, benign familial infantile, 5 617080; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "SCN8A",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:40:52.131539+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5180",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: HBB was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:39:22.287034+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:39:10.886953+11:00",
"panel_name": "Muscular dystrophy_Paediatric",
"panel_id": 141,
"panel_version": "0.76",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ISPD: Added comment: - No distinct genotype-phenotype correlation. - Congenital MD is more commonly reported and has been reported in patients with hom PTCs, missense and chet (missense/PTCs) (OMIM). - Limb girdle MD has also been reported for chet patients (PMID: 28688748; PMID: 30060766). Patient fibroblasts showed impaired O-mannosylation, and transfection with wildtype protein have restored function (rescue) (PMID: 22522420). Intragenic CNVs are commonly reported for this gene (OMIM).; Changed publications: 22522421, 23217329, 23390185, 30060766, 28688748, 26404900, 30060766",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:37:36.735522+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ISPD.",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:37:23.287694+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5179",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: ISPD were set to 22522421; 23217329; 23390185; 30060766; 28688748; 26404900",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:36:10.517950+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAD51D as ready",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:36:10.509766+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51d has been classified as Red List (Low Evidence).",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:36:02.892373+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5178",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: RAD51D were changed from to {Breast-ovarian cancer, familial, susceptibility to, 4} 614291",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:35:38.325632+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: RAD51D were set to ",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:35:17.930779+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: RAD51D was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:35:01.085733+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAD51D as Red List (low evidence)",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:35:01.077610+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rad51d has been classified as Red List (Low Evidence).",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:30:12.115952+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5174",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: NUS1: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 25066056, 29100083, 31656175, 32485575; Phenotypes: ?Congenital disorder of glycosylation, type 1aa 617082, Mental retardation, autosomal dominant 55, with seizures 617831; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "NUS1",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:27:27.558994+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5174",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: COG8: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 30690882, 17331980; Phenotypes: Congenital disorder of glycosylation, type IIh 611182; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "COG8",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:25:03.562266+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5174",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: HBB: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 31788855, 20301599, 29700171; Phenotypes: {Malaria, resistance to} 611162, Delta-beta thalassemia 141749, Erythrocytosis 6 617980, Heinz body anemia 140700, Hereditary persistence of fetal hemoglobin 141749, Methemoglobinemia, beta type 617971, Sickle cell anemia 603903, Thalassemia-beta, dominant inclusion-body 603902, Thalassemia, beta 613985; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal; Current diagnostic: yes",
"entity_name": "HBB",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:16:53.909655+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5174",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: ISPD: Rating: GREEN; Mode of pathogenicity: None; Publications: PMID: 28688748, 30060766, 22522420; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 7 614643, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 7 616052; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "ISPD",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:09:48.197355+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TPO as ready",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:09:48.181232+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tpo has been classified as Green List (High Evidence).",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:09:40.439938+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TPO were changed from to Thyroid dyshormonogenesis 2A, MIM# 274500",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:08:31.809464+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TPO were set to ",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:08:04.089732+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TPO was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2020-10-30T09:07:12.610379+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TPO: Rating: GREEN; Mode of pathogenicity: None; Publications: 8027236, 10084596; Phenotypes: Thyroid dyshormonogenesis 2A, MIM# 274500; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TPO",
"entity_type": "gene"
},
{
"created": "2020-10-30T08:40:31.436183+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5171",
"user_name": "Elena Savva",
"item_type": "entity",
"text": "reviewed gene: RAD51D: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 28646019, 31937788, 26057125; Phenotypes: {Breast-ovarian cancer, familial, susceptibility to, 4} 614291; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown",
"entity_name": "RAD51D",
"entity_type": "gene"
},
{
"created": "2020-10-29T20:25:33.030839+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SLC37A4 as ready",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-10-29T20:25:33.021617+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc37a4 has been classified as Red List (Low Evidence).",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-10-29T20:25:04.021878+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SLC37A4 was added\ngene: SLC37A4 was added to Congenital Disorders of Glycosylation. Sources: Literature\nMode of inheritance for gene: SLC37A4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SLC37A4 were set to 32884905\nPhenotypes for gene: SLC37A4 were set to Congenital disorder of glycosylation\nReview for gene: SLC37A4 was set to RED\nAdded comment: Bi-allelic LOF variants in this gene cause glycogen storage disorder.\r\n\r\nSingle individual reported with heterozygous de novo variant in this gene. Clinical features included dysmorphic features (low set ears, a broad nose, mandibular micrognathia and facial asymmetry) and hepatopathy. The variant abolishes the ER retention signal of the transporter and generates a weak Golgi retention signal. Intracellular mislocalization of the transporter is postulated to lead to a congenital disorder of glycosylation instead of glycogen storage disease. \nSources: Literature",
"entity_name": "SLC37A4",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:41:17.855738+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures; OMIM #615553 to Arthrogryposis, mental retardation, and seizures OMIM #615553; Skeletal dysplasia; Congenital disorder of glycosylation",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:40:32.130777+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A3 were set to 28328131; 24031089",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:40:06.841186+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC35A3 as Green List (high evidence)",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:40:06.830791+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:39:43.955789+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC35A3: Added comment: Third unrelated family reported in PMID 28777481 with prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear. Unclear if this is a distinct phenotype (note Holstein cows with variants in this gene have a skeletal phenotype) or part of a spectrum for a CDG. However, abnormal protein glycosylation, consistent with a defective Golgi UDP-GlcNAc transporter demonstrated, so overall, promoted to Green for CDG.; Changed rating: GREEN; Changed publications: 28777481, 28328131, 24031089; Changed phenotypes: Arthrogryposis, mental retardation, and seizures OMIM #615553, Skeletal dysplasia, Congenital disorder of glycosylation; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:39:33.729865+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A3 were set to 28328131; 24031089; 28777481",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:37:55.129437+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A3 were changed from Arthrogryposis, mental retardation, and seizures; OMIM #615553 to Arthrogryposis, mental retardation, and seizures OMIM #615553; Skeletal dysplasia; Congenital disorder of glycosylation",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:37:36.799693+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A3 were set to 28328131; 24031089",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:37:03.944079+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SLC35A3 as Green List (high evidence)",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:37:03.936641+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: slc35a3 has been classified as Green List (High Evidence).",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:36:33.823576+11:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "0.173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SLC35A3: Added comment: Third unrelated family reported in PMID 28777481 with prenatally diagnosed anomalous vertebrae, including butterfly, and hemivertebrae throughout the spine, as well as cleft palate, micrognathia, patent foramen ovale, patent ductus arteriosus, posterior embryotoxon, short limbs, camptodactyly, talipes valgus, rocker bottom feet, and facial dysmorphism including proptosis, nevus flammeus, and a cupped left ear. Unclear if this is a distinct phenotype (note Holstein cows with variants in this gene have a skeletal phenotype) or part of a spectrum for a CDG. However, abnormal protein glycosylation, consistent with a defective Golgi UDP-GlcNAc transporter demonstrated, so overall, promoted to Green for CDG.; Changed rating: GREEN; Changed publications: 28777481, 28328131, 24031089; Changed phenotypes: Arthrogryposis, mental retardation, and seizures OMIM #615553, Skeletal dysplasia, Congenital disorder of glycosylation; Changed mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:33:47.856064+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3120",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SLC35A3 were changed from ?Arthrogryposis, mental retardation, and seizures; OMIM #615553 to Arthrogryposis, mental retardation, and seizures OMIM #615553; Skeletal dysplasia",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:32:48.862413+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3119",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: SLC35A3 were set to PMID: 28328131; 24031089",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T18:32:09.372124+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3118",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: SLC35A3: Rating: AMBER; Mode of pathogenicity: None; Publications: 28777481; Phenotypes: Skeletal dysplasia; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T15:26:49.332121+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: EMG1: Rating: GREEN; Mode of pathogenicity: None; Publications: 19463982; Phenotypes: Bowen-Conradi syndrome MIM #2111180; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "EMG1",
"entity_type": "gene"
},
{
"created": "2020-10-29T15:17:23.912643+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "reviewed gene: SLC35A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 24031089, 28777481, 28328131; Phenotypes: Arthrogryposis, mental retardation, and seizures; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "SLC35A3",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:58:40.455262+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAC14 as ready",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:58:40.432172+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vac14 has been classified as Green List (High Evidence).",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:58:36.786203+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.202",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAC14 were changed from to Striatonigral degeneration, childhood-onset, MIM#617054",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:58:07.009653+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.201",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VAC14 were set to ",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:57:36.107842+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.200",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VAC14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:56:56.218295+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: VAC14 as ready",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:56:56.193900+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: vac14 has been classified as Green List (High Evidence).",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:56:51.574750+11:00",
"panel_name": "Regression",
"panel_id": 206,
"panel_version": "0.199",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VAC14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27292112, 31392254, 31591492, 31387860, 31876398; Phenotypes: Striatonigral degeneration, childhood-onset, MIM#617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:56:42.938087+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: VAC14 were changed from to Striatonigral degeneration, childhood-onset, MIM#617054",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:56:25.161088+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: VAC14 were set to ",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:56:06.629274+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: VAC14 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:55:21.366524+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: VAC14: Rating: GREEN; Mode of pathogenicity: None; Publications: 27292112, 31392254, 31591492, 31387860, 31876398; Phenotypes: Striatonigral degeneration, childhood-onset, MIM#617054; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "VAC14",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:44:34.732234+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Sarah Righetti",
"item_type": "entity",
"text": "changed review comment from: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom 8bp insertion. Phenotype similar to that of null mice. \r\n\r\nPMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture\r\n\r\nPMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation; to: PMID 17701904: Lod score >9 in large Israeli family, also a second unrelated isolated case. Both families: hom splice variant in intron 10 (IVS10-8A→G) causing fs & premature protein truncation. Fnal studies confirm aberrant splicing. Phenotype similar to that of null mice. \r\n\r\nPMID 31752936: Compound het variants identified in 24mo Chinese female patient with a novel multisystem syndrome disorder without congenital contracture\r\n\r\nPMID 28454995: Hom missense in Saudi Arabian individual with lethal congenital contractural syndrome, additional features: dysmorphic features, knee dislocation, bilaterial hip dislocation",
"entity_name": "ERBB3",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:34:22.540722+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Marked gene: IL10RB as ready",
"entity_name": "IL10RB",
"entity_type": "gene"
},
{
"created": "2020-10-29T14:34:22.531925+11:00",
"panel_name": "Mackenzie's Mission_Reproductive Carrier Screening",
"panel_id": 3139,
"panel_version": "0.44",
"user_name": "Seb Lunke",
"item_type": "entity",
"text": "Gene: il10rb has been classified as Green List (High Evidence).",
"entity_name": "IL10RB",
"entity_type": "gene"
}
]
}