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{
"count": 221415,
"next": "https://panelapp-aus.org/api/v1/activities/?format=api&page=544",
"previous": "https://panelapp-aus.org/api/v1/activities/?format=api&page=542",
"results": [
{
"created": "2023-10-03T12:38:45.132311+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1245",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM#\t301040; Intellectual disability-hypotonic facies syndrome, X-linked, MIM#\t309580 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:38:15.420656+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.190",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM#\t301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM#\t309580 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:37:43.203822+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:37:26.954361+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: ATRX: Changed phenotypes: ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T12:37:14.571655+11:00",
"panel_name": "Angelman Rett like syndromes",
"panel_id": 41,
"panel_version": "1.9",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: ATRX were changed from Alpha-thalassemia/mental retardation syndrome, MIM# 301040; Mental retardation-hypotonic facies syndrome, X-linked, MIM# 309580 to ATR-X-related syndrome MONDO:0016980",
"entity_name": "ATRX",
"entity_type": "gene"
},
{
"created": "2023-10-03T10:29:28.139625+11:00",
"panel_name": "Microcephaly",
"panel_id": 138,
"panel_version": "1.232",
"user_name": "Lauren Rogers",
"item_type": "entity",
"text": "gene: DDX3X was added\ngene: DDX3X was added to Microcephaly. Sources: Literature\nMode of inheritance for gene: DDX3X was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: DDX3X were set to 26235985\nPhenotypes for gene: DDX3X were set to Snijders Blok-type X-linked syndromic intellectual developmental disorder (MIM#300958)\nReview for gene: DDX3X was set to GREEN\nAdded comment: PMID: 26235985 - microcephaly seen in 12/38 females with de novo DDX3X variants \nSources: Literature",
"entity_name": "DDX3X",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:48:30.347904+11:00",
"panel_name": "Ciliopathies",
"panel_id": 84,
"panel_version": "1.46",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:47:45.575698+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1244",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DLG5 were changed from Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations to Ciliopathy, MONDO:0016044, DLG5-related; Cystic kidneys, nephrotic syndrome, hydrocephalus, limb abnormalities, congenital heart disease and craniofacial malformations",
"entity_name": "DLG5",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:38:55.666618+11:00",
"panel_name": "Cerebral Palsy",
"panel_id": 73,
"panel_version": "1.189",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:38:16.036510+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5506",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:37:28.158593+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1243",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DHX32 were changed from Intellectual disability, spastic diplegia, dystonia, brain abnormalities to Neurodevelopmental disorder, MONDO:0700092, DHX32-related",
"entity_name": "DHX32",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:21:13.716294+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1242",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DGAT2 were changed from axonal Charcot-Marie-Tooth disease to Charcot-Marie-Tooth disease, MONDO:0015626, DGAT2-related",
"entity_name": "DGAT2",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:19:05.876340+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1241",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX54 were changed from Intellectual disability; congenital anomalies to Neurodevelopmental disorder, MONDO:0700092, DDX54-related",
"entity_name": "DDX54",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:18:41.769424+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX54: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX54-related",
"entity_name": "DDX54",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:17:51.834943+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1240",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX23 were changed from DDX23-associated neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DDX23-related",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:17:29.454651+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX23: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX23-related",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:17:07.898928+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5505",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DDX23 were changed from DDX23-associated neurodevelopmental disorder to Neurodevelopmental disorder, MONDO:0700092, DDX23-related",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:16:33.237128+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: DDX23: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, DDX23-related",
"entity_name": "DDX23",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:04:32.034171+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1239",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSNK1G1 were changed from Global developmental delay; Intellectual disability; Autism; Seizures to Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:04:11.157053+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSNK1G1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2023-10-02T18:02:57.187074+11:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5504",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSNK1G1 were changed from Global developmental delay; Intellectual disability; Autism; Seizures; Abnormality of the face; Abnromality of limbs to Neurodevelopmental disorder, MONDO:0700092, CSNK1G-related",
"entity_name": "CSNK1G1",
"entity_type": "gene"
},
{
"created": "2023-10-01T13:42:14.373118+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1238",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-10-01T13:41:49.737261+11:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: SPTAN1: Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related, Neuronopathy, distal hereditary motor, 11, autosomal dominant, MIM# 620528",
"entity_name": "SPTAN1",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:47:09.361685+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1237",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:46:36.515009+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.318",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DAZL were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DAZL-related",
"entity_name": "DAZL",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:44:09.815079+10:00",
"panel_name": "Primary Ovarian Insufficiency_Premature Ovarian Failure",
"panel_id": 3166,
"panel_version": "0.317",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related",
"entity_name": "DACH2",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:43:39.965894+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1236",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: DACH2 were changed from Primary ovarian insufficiency to Primary ovarian failure, MONDO:0005387, DACH2-related",
"entity_name": "DACH2",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:02:24.049336+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:02:05.125559+10:00",
"panel_name": "Iron metabolism disorders",
"panel_id": 3469,
"panel_version": "0.35",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:01:46.209291+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1235",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CYBRD1 were changed from Iron overload to Iron metabolism disease, MONDO:0002279, CYBRD1-related",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2023-09-29T17:01:26.897399+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CYBRD1: Changed phenotypes: Iron metabolism disease, MONDO:0002279, CYBRD1-related",
"entity_name": "CYBRD1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:57:31.584541+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5503",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Neurodevelopmental disorder, MONDO:0700092, CTNND2-related",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:56:26.710686+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1234",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNND2 were changed from Intellectual disability; Autism; Epilepsy to Neurodevelopmental disorder, MONDO:0700092, CTNND2-related",
"entity_name": "CTNND2",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:55:03.565364+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1233",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CTNNBL1 were changed from Primary Immunodeficiency; Autoimmune Cytopenias; Common variable immunodeficiency to Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:54:40.584941+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CTNNBL1: Changed phenotypes: Immunodeficiency 99 with hypogammaglobulinemia and autoimmune cytopenias, MIM# 619846",
"entity_name": "CTNNBL1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:42:02.814619+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1232",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related",
"entity_name": "CSNK1E",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:41:33.282999+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1923",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSNK1E were changed from Epileptic encephalopathy to Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related",
"entity_name": "CSNK1E",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:40:55.041511+10:00",
"panel_name": "Genetic Epilepsy",
"panel_id": 202,
"panel_version": "0.1922",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSNK1E: Changed phenotypes: Developmental and epileptic encephalopathy, MONDO:0100062, CSNK1E-related",
"entity_name": "CSNK1E",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:39:04.798297+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.37",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSGALNACT1 were changed from Congenital disorder of glycosylation; skeletal dysplasia to Congenital disorder of glycosylation; Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:38:22.371385+10:00",
"panel_name": "Congenital Disorders of Glycosylation",
"panel_id": 68,
"panel_version": "1.36",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSGALNACT1: Changed phenotypes: Congenital disorder of glycosylation, Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:37:58.109925+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CSGALNACT1 as ready",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:37:58.094993+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csgalnact1 has been classified as Green List (High Evidence).",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:37:53.685576+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CSGALNACT1 as Green List (high evidence)",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:37:53.676483+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.255",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: csgalnact1 has been classified as Green List (High Evidence).",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:37:14.354467+10:00",
"panel_name": "Skeletal dysplasia",
"panel_id": 258,
"panel_version": "0.254",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CSGALNACT1 was added\ngene: CSGALNACT1 was added to Skeletal dysplasia. Sources: Expert Review\nMode of inheritance for gene: CSGALNACT1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CSGALNACT1 were set to 31705726; 31325655\nPhenotypes for gene: CSGALNACT1 were set to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870\nReview for gene: CSGALNACT1 was set to GREEN\nAdded comment: Four families reported. \nSources: Expert Review",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:34:52.399988+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1231",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSGALNACT1 were changed from Congenital disorders of glycosylation; skeletal dysplasia; advanced bone age to Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:34:27.137630+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSGALNACT1: Changed phenotypes: Skeletal dysplasia, mild, with joint laxity and advanced bone age, MIM# 618870",
"entity_name": "CSGALNACT1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:33:15.754409+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.193",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:32:39.959028+10:00",
"panel_name": "Autism",
"panel_id": 51,
"panel_version": "0.192",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSDE1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSDE1-related",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:32:24.500658+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5502",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:31:39.760028+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1230",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CSDE1 were changed from Autism; intellectual disability; seizures; macrocephaly to Neurodevelopmental disorder, MONDO:0700092, CSDE1-related",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:31:19.809428+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: CSDE1: Changed phenotypes: Neurodevelopmental disorder, MONDO:0700092, CSDE1-related",
"entity_name": "CSDE1",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:21:59.313884+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: PLCG2 as ready",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:21:59.280110+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcg2 has been classified as Green List (High Evidence).",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:21:55.103569+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.115",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: PLCG2 were changed from Susceptibility to herpes virus to Hereditary susceptibility to infections, MONDO:0015979, PLCG2-related; Susceptibility to herpes virus",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:21:23.470346+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: PLCG2 as Green List (high evidence)",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:21:23.454248+10:00",
"panel_name": "Susceptibility to Viral Infections",
"panel_id": 237,
"panel_version": "0.114",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: plcg2 has been classified as Green List (High Evidence).",
"entity_name": "PLCG2",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:17:58.513754+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP4 as ready",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T16:17:58.497903+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp4 has been classified as Red List (Low Evidence).",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T14:56:05.705032+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: STIL as Amber List (moderate evidence)",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2023-09-29T14:56:05.693872+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: stil has been classified as Amber List (Moderate Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2023-09-29T14:55:45.210132+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Classified gene: STIL as Amber List (moderate evidence)",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2023-09-29T14:55:45.173767+10:00",
"panel_name": "Holoprosencephaly and septo-optic dysplasia",
"panel_id": 112,
"panel_version": "1.9",
"user_name": "Chirag Patel",
"item_type": "entity",
"text": "Gene: stil has been classified as Amber List (Moderate Evidence).",
"entity_name": "STIL",
"entity_type": "gene"
},
{
"created": "2023-09-29T13:00:45.934958+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1229",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "gene: CASP4 was added\ngene: CASP4 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: CASP4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP4 were set to 37647624\nPhenotypes for gene: CASP4 were set to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis\nReview for gene: CASP4 was set to RED\nAdded comment: Single patient with severe disease secondary to B. pseudomallei requiring ECMO. Adjunctive IFN-γ administration as replacement for its failed induction by IL-18 promptly led to clearance of B. pseudomallei and subsequent weaning of support. Novel homozygous missense mutation in CASP4, at exon 7 c.1030C > T. Peripheral blood mononuclear cells (PBMC) of the patient and her parents showed reduced IFN-γ production, notably to IL-12 stimulation, and decreased IL-18 in response to LPS and increased IL-1B. Cloned cells show impacts on CASP4 activation and pyroptosis. \nSources: Expert Review",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:57:08.934686+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: CASP4 as ready",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:57:08.914473+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp4 has been classified as Red List (Low Evidence).",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:56:42.204752+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.130",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: CASP4 were changed from Susceptibility to meliodiosis to Hereditary susceptibility to infection, MONDO:0015979, CASP4-related; Susceptibility to meliodiosis",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:55:54.730660+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: CASP4 as Red List (low evidence)",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:55:54.710470+10:00",
"panel_name": "Defects of innate immunity",
"panel_id": 231,
"panel_version": "0.129",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: casp4 has been classified as Red List (Low Evidence).",
"entity_name": "CASP4",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:54:28.110048+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1228",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, MIM# 614204 to Psoriasis 14, pustular, MIM# 614204; Autoinflammatory syndrome, MONDO:0019751, IL36RN-related",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:53:08.352899+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1227",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL36RN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:52:47.913908+10:00",
"panel_name": "Mendeliome",
"panel_id": 137,
"panel_version": "1.1226",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "edited their review of gene: IL36RN: Added comment: Monoallelic disease: Multiple patients with systemic inflammation with monoallelic variants in IL36RN suggesting a gene dosage effect whereby GPP onset is significantly delayed in subjects with monoallelic mutations but still at high risk of systemic inflammation.; Changed publications: 21848462, 21839423, 22903787, 23648549, 25458002; Changed phenotypes: Psoriasis 14, pustular, MIM# 614204, Autoinflammatory syndrome, MONDO:0019751, IL36RN-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:52:16.384886+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.16",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: IL36RN were changed from Psoriasis 14, pustular, MIM# 614204 to Psoriasis 14, pustular, MIM# 614204; Autoinflammatory syndrome, MONDO:0019751, IL36RN-related",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:51:18.886636+10:00",
"panel_name": "Systemic Autoinflammatory Disease_Periodic Fever",
"panel_id": 238,
"panel_version": "1.15",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: IL36RN was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic, autosomal or pseudoautosomal",
"entity_name": "IL36RN",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:50:14.511968+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSEN54 as ready",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:50:14.498189+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsen54 has been classified as Green List (High Evidence).",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:50:09.597360+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5501",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSEN54 were changed from to pontocerebellar hypoplasia type 2A MONDO:0010190",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:49:36.158922+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5500",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSEN54 were set to ",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:48:31.023729+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5499",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSEN54 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSEN54",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:47:40.336900+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSFM as ready",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:47:40.298978+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tsfm has been classified as Green List (High Evidence).",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:47:29.215238+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5498",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSFM were changed from to Combined oxidative phosphorylation deficiency 3, MIM#610505",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:46:56.630719+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5497",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSFM were set to ",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:46:23.294923+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5496",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSFM was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:45:49.670935+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSFM: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Combined oxidative phosphorylation deficiency 3, MIM#610505; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSFM",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:45:16.995397+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: TSHB as ready",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:45:16.985777+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: tshb has been classified as Green List (High Evidence).",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:45:11.877776+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5495",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: TSHB were changed from to Central congenital hypothyroidism Orphanet:226298",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:44:35.389674+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5494",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Publications for gene: TSHB were set to ",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:43:43.961437+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5493",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Mode of inheritance for gene: TSHB was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:43:09.821126+10:00",
"panel_name": "Intellectual disability syndromic and non-syndromic",
"panel_id": 250,
"panel_version": "0.5492",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "reviewed gene: TSHB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Central congenital hypothyroidism Orphanet:226298; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal",
"entity_name": "TSHB",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:42:05.939493+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: ATP6V1B2 as ready",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:42:05.926101+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:42:01.106883+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: ATP6V1B2 as Green List (high evidence)",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:42:01.097634+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.164",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: atp6v1b2 has been classified as Green List (High Evidence).",
"entity_name": "ATP6V1B2",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:41:13.801191+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Marked gene: LMX1B as ready",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:41:13.791325+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.163",
"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": "2023-09-29T12:41:10.377166+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.163",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Phenotypes for gene: LMX1B were changed from Nail-patella syndrome (MIM#161200), MONDO:0008061; LMX1B-related nephropathy; Focal segmental glomerulosclerosis-10 (FSGS10), MIM#256020 to Nail-patella syndrome (MIM#161200), MONDO:0008061",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:40:38.153391+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Classified gene: LMX1B as Green List (high evidence)",
"entity_name": "LMX1B",
"entity_type": "gene"
},
{
"created": "2023-09-29T12:40:38.144171+10:00",
"panel_name": "Deafness_IsolatedAndComplex",
"panel_id": 209,
"panel_version": "1.162",
"user_name": "Zornitza Stark",
"item_type": "entity",
"text": "Gene: lmx1b has been classified as Green List (High Evidence).",
"entity_name": "LMX1B",
"entity_type": "gene"
}
]
}