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{
"count": 220437,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1511",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=1509",
"results": [
{
"created": "2020-11-05T08:51:00.176399+11:00",
"panel_name": "Arthrogryposis",
"panel_id": 47,
"panel_version": "0.242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Added comment: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy). >300 families reported.; Changed phenotypes: Nail-patella syndrome, MIM# 161200",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:50:30.106660+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:50:30.072920+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Green List (High Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:50:24.840928+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.145",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:50:00.305226+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.144",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMX1B were set to ",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:49:29.835480+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.143",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: LMX1B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:48:55.939234+11:00",
"panel_name": "Proteinuria",
"panel_id": 144,
"panel_version": "0.142",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: 27450397, 32457516; Phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:46:59.262585+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5328",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: LMX1B were set to 27450397",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:46:31.476487+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: LMX1B: Nail-patella syndrome (NPS) is an autosomal-dominant disease characterized by dysplastic nails, absent or hypoplastic patellae, elbow dysplasia, and iliac horns. Varying degrees of proteinuria or hematuria are present, and can occasionally progress to chronic renal failure. Some variants in the homeodomain of LMX1B cause isolated nephropathy without nail, patellar or skeletal abnormality (LMX1B-associated nephropathy).\r\n\r\n>300 families reported.",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:44:38.925225+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: LMX1B: Changed publications: 27450397, 32457516",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:42:33.163820+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5327",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200); LMX1B-related nephropathy to Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:42:03.904763+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: LMX1B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Nail-patella syndrome (MIM#161200), MONDO:0008061, LMX1B-related nephropathy; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:37:19.305718+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC80 were changed from Hypotonia, infantile, with psychomotor retardation and characteristic facies 2 MIM#616801 to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:36:44.072589+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "0.495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:36:01.660554+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC80 were changed from hypotonia; severe intellectual disability; dyskinesia; dysmorphism to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:35:36.861804+11:00",
"panel_name": "Dystonia - complex",
"panel_id": 290,
"panel_version": "0.153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:34:36.949110+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:34:36.933714+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Green List (High Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:34:33.420062+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.898",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:33:58.869912+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.897",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to ",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:33:18.376888+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.896",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:32:46.972391+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "commented on gene: UNC80: UNC80 is part of the NALCN complex, and this is considered a NALCN channelopathy.\r\n\r\nMore than 20 individuals from more than 5 unrelated families reported with bi-allelic variants in this gene and severe autosomal recessive neurodevelopmental disorder with onset at birth or in early infancy. Affected individuals show severe global developmental delay with poor or absent speech and absent or limited ability to walk. Some have had seizures; brain structure is typically normal.\r\n\r\nUNC80 knockout mice are neonatal lethal.",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:32:26.262382+11:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.895",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708751, 26708753, 26545877, 32620897, 30167850, 30167850; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:31:40.986031+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:31:40.975355+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Green List (High Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:31:27.270798+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UNC80 as ready",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:31:27.259635+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: unc80 has been classified as Green List (High Evidence).",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:31:15.353400+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5326",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:30:53.022890+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5325",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to ",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:29:58.654154+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5324",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:29:46.545766+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3177",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: UNC80 were changed from to Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; MONDO:0014777",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:29:33.532066+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708751, 26708753, 26545877, 32620897, 30167850, 30167850; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:29:27.397521+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to 26708751; 26708753; 26545877; 32620897; 30167850; 30167850",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:29:00.584631+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3176",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: UNC80 were set to ",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:28:21.863434+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: UNC80: Changed phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801, MONDO:0014777",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:25:24.862350+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3175",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: UNC80 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-05T08:24:48.443740+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: UNC80: Rating: GREEN; Mode of pathogenicity: None; Publications: 26708751, 26708753, 26545877, 32620897, 30167850, 30167850; Phenotypes: Hypotonia, infantile, with psychomotor retardation and characteristic facies 2, MIM# 616801; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "UNC80",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:50:07.169639+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ZFHX4.",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:49:48.452869+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Tag SV/CNV tag was added to gene: ZFHX4.",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:47:46.370547+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFHX4 as Green List (high evidence)",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:47:46.363323+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5323",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx4 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:47:29.233520+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "0.5322",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: ZFHX4: Rating: GREEN; Mode of pathogenicity: None; Publications: 21802062; Phenotypes: Intellectual disability; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:45:58.313975+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ZFHX4 as Green List (high evidence)",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:45:58.303668+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3174",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: zfhx4 has been classified as Green List (High Evidence).",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:45:25.411101+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3173",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: ZFHX4 was added\ngene: ZFHX4 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ZFHX4 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ZFHX4 were set to 33057194; 24038936; 21802062\nPhenotypes for gene: ZFHX4 were set to Developmental disorders; intellectual disability, dysmorphic features\nReview for gene: ZFHX4 was set to GREEN\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (5 frameshift, 5 missense, 4 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided). \r\nPMID: 24038936 - a single case with developmental delay, macrocephaly, ventriculomegaly, hypermetropia, recurrent infections, dysmorphism and a de novo deletion of the last 7 exons of the gene.\r\nPMID:21802062 (2011) report 8 individuals with ID and overlapping deletions of 8q21.11 (0.66-13.55 Mb in size); the smallest region of overlap encompasses 3 genes including ZFHX4. \nSources: Literature",
"entity_name": "ZFHX4",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:40:47.697712+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: UPF1 as ready",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:40:47.689139+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: upf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:40:29.950947+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: UPF1 as Amber List (moderate evidence)",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:40:29.943336+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3172",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: upf1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:39:11.098731+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3171",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: UPF1 was added\ngene: UPF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: UPF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: UPF1 were set to 33057194\nPhenotypes for gene: UPF1 were set to Developmental disorders\nReview for gene: UPF1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 16 de novo variants (1 frameshift, 11 missense, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating). \nSources: Literature",
"entity_name": "UPF1",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:36:31.063525+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: U2AF2 as ready",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:36:31.055561+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:36:26.286222+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: U2AF2 as Amber List (moderate evidence)",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:36:26.276320+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3170",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: u2af2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:35:54.702171+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3169",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: U2AF2 was added\ngene: U2AF2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: U2AF2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: U2AF2 were set to 33057194\nPhenotypes for gene: U2AF2 were set to Developmental disorders\nReview for gene: U2AF2 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 8 missense, 1 synoymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating). \nSources: Literature",
"entity_name": "U2AF2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:16:29.638507+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TCF7L2 as ready",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:16:29.627667+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:16:23.968801+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: TCF7L2 as Amber List (moderate evidence)",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:16:23.906281+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3168",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tcf7l2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-04T20:15:27.634830+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3167",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: TCF7L2 was added\ngene: TCF7L2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: TCF7L2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: TCF7L2 were set to 33057194\nPhenotypes for gene: TCF7L2 were set to Developmental disorders\nReview for gene: TCF7L2 was set to AMBER\nAdded comment: A diabetes susceptibility locus associated with common SNVs, see OMIM for details.\r\n\r\nPMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 12 de novo variants (2 frameshift, 6 missense, 1 splice acceptor, 2 stopgain, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided, hence Amber rating). \nSources: Literature",
"entity_name": "TCF7L2",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:30:04.839780+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SRRM2 as ready",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:30:04.823954+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:29:59.735842+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SRRM2 as Amber List (moderate evidence)",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:29:59.725721+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3166",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: srrm2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:29:22.820646+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3165",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SRRM2 was added\ngene: SRRM2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SRRM2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SRRM2 were set to 33057194\nPhenotypes for gene: SRRM2 were set to Developmental disorders\nReview for gene: SRRM2 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 28 de novo variants (11 frameshift, 7 missense, 1 splice acceptor, 5 stopgain, 4 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "SRRM2",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:26:05.949651+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SPEN as ready",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:26:05.936611+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spen has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:25:59.320096+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SPEN as Amber List (moderate evidence)",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:25:59.310108+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: spen has been classified as Amber List (Moderate Evidence).",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:25:25.485507+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SPEN was added\ngene: SPEN was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SPEN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SPEN were set to 33057194\nPhenotypes for gene: SPEN were set to Developmental disorders\nReview for gene: SPEN was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 25 de novo variants (6 frameshift, 1 in-frame, 7 missense, 8 stopgain, 3 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "SPEN",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:08:37.422726+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: SATB1 as ready",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:08:37.411171+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:08:31.616460+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: SATB1 as Amber List (moderate evidence)",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:08:31.608603+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: satb1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:07:58.289678+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3161",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: SATB1 was added\ngene: SATB1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: SATB1 were set to 33057194\nPhenotypes for gene: SATB1 were set to Developmental disorders\nReview for gene: SATB1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 12 de novo (2 frameshift, 7 missense, 1 stopgain, 2 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "SATB1",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:04:32.828067+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: RAB14 as ready",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:04:32.817218+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:04:25.395696+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: RAB14 as Amber List (moderate evidence)",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:04:25.388284+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3160",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: rab14 has been classified as Amber List (Moderate Evidence).",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-04T16:01:07.843617+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3159",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: RAB14 was added\ngene: RAB14 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: RAB14 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: RAB14 were set to 33057194\nPhenotypes for gene: RAB14 were set to Developmental disorders\nReview for gene: RAB14 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (1 in-frame, 7 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "RAB14",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:57:09.042931+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PSMC5 as ready",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:57:09.033194+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:57:03.793385+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PSMC5 as Amber List (moderate evidence)",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:57:03.785918+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3158",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: psmc5 has been classified as Amber List (Moderate Evidence).",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:56:31.277503+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3157",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: PSMC5 was added\ngene: PSMC5 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: PSMC5 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PSMC5 were set to 33057194\nPhenotypes for gene: PSMC5 were set to Developmental disorders\nReview for gene: PSMC5 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 10 de novo variants (1 in-frame, 9 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "PSMC5",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:52:00.793711+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MSL2 as ready",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:52:00.782312+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:51:49.922704+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MSL2 as Amber List (moderate evidence)",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:51:49.911318+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3156",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: msl2 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:50:44.163776+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3155",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MSL2 was added\ngene: MSL2 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MSL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MSL2 were set to 31332282; 33057194\nPhenotypes for gene: MSL2 were set to Developmental disorders; autism\nReview for gene: MSL2 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 13 de novo variants (9 frameshift, 4 missense) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \r\nPMID: 31332282 - candidate gene in a single autism study, with recurrent de novo variants in a potential oligogenic model \nSources: Literature",
"entity_name": "MSL2",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:45:19.650648+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: MMGT1 as ready",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:45:19.642326+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmgt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:45:14.615920+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: MMGT1 as Amber List (moderate evidence)",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:45:14.605228+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3154",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: mmgt1 has been classified as Amber List (Moderate Evidence).",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:44:16.113668+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3153",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: MMGT1 was added\ngene: MMGT1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: MMGT1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: MMGT1 were set to 33057194\nPhenotypes for gene: MMGT1 were set to Developmental disorders\nReview for gene: MMGT1 was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 3 de novo missense identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "MMGT1",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:41:24.593095+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: HNRNPD as ready",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:41:24.585391+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpd has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:41:19.343099+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: HNRNPD as Amber List (moderate evidence)",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:41:19.332921+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3152",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: hnrnpd has been classified as Amber List (Moderate Evidence).",
"entity_name": "HNRNPD",
"entity_type": "gene"
},
{
"created": "2020-11-04T15:40:41.524978+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.3151",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: HNRNPD was added\ngene: HNRNPD was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: HNRNPD was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: HNRNPD were set to 33057194\nPhenotypes for gene: HNRNPD were set to Developmental disorders\nReview for gene: HNRNPD was set to AMBER\nAdded comment: PMID: 33057194 - Has been identified as a gene with significant de novo enrichment in a large trio study from the Deciphering Developmental Disorders study. 8 de novo variants (5 frameshift, 1 missense, 1 splice acceptor, 1 synonymous) identified in ~10,000 cases with developmental disorders (no other phenotype info provided hence Amber rating). \nSources: Literature",
"entity_name": "HNRNPD",
"entity_type": "gene"
}
]
}