{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=339","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=337","results":[{"created":"2024-11-26T20:27:24.685708+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CEP63 as ready","entity_name":"CEP63","entity_type":"gene"},{"created":"2024-11-26T20:27:24.674181+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cep63 has been classified as Red List (Low Evidence).","entity_name":"CEP63","entity_type":"gene"},{"created":"2024-11-26T20:27:03.995373+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A2 as ready","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-11-26T20:27:03.982194+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a2 has been classified as Red List (Low Evidence).","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-11-26T20:26:49.008125+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.50","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A2 were changed from {Hemorrhage, intracerebral, susceptibility to}, 614519; {Hemorrhage, intracerebral, susceptibility to} to Stroke, hemorrhagic MIM#614519","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-11-26T20:26:30.076049+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.49","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL4A2 were set to ","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-11-26T20:26:15.529358+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.48","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A2 was changed from  to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-11-26T20:25:50.735355+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CRB1 as ready","entity_name":"CRB1","entity_type":"gene"},{"created":"2024-11-26T20:25:50.723466+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: crb1 has been classified as Red List (Low Evidence).","entity_name":"CRB1","entity_type":"gene"},{"created":"2024-11-26T20:25:48.075862+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.47","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CRB1 were changed from Pigmented Paravenous Chorioretinal Atrophy to Pigmented paravenous chorioretinal atrophy MIM#172870","entity_name":"CRB1","entity_type":"gene"},{"created":"2024-11-26T20:25:04.142981+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CTSA as ready","entity_name":"CTSA","entity_type":"gene"},{"created":"2024-11-26T20:25:04.114201+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ctsa has been classified as Red List (Low Evidence).","entity_name":"CTSA","entity_type":"gene"},{"created":"2024-11-26T20:24:59.080885+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.46","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: CTSA were changed from  to galactosialidosis MONDO:0009737","entity_name":"CTSA","entity_type":"gene"},{"created":"2024-11-26T20:24:40.158605+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.45","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CTSA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2024-11-26T20:24:17.361359+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DCX as ready","entity_name":"DCX","entity_type":"gene"},{"created":"2024-11-26T20:24:17.341237+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dcx has been classified as Red List (Low Evidence).","entity_name":"DCX","entity_type":"gene"},{"created":"2024-11-26T20:24:14.260797+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.44","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DCX were changed from Cerebral Malformation Disorders to lissencephaly spectrum disorders MONDO:0018838","entity_name":"DCX","entity_type":"gene"},{"created":"2024-11-26T20:23:42.113465+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADGRG1 as ready","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2024-11-26T20:23:42.101115+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: adgrg1 has been classified as Red List (Low Evidence).","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2024-11-26T20:23:38.823616+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.43","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ADGRG1 were changed from Cerebral Malformation Disorders to bilateral frontoparietal polymicrogyria MONDO:0011738","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2024-11-26T20:22:36.739818+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2150","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GARS were changed from Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder to Mitochondrial disease (MONDO:0044970), GARS1-related; Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder","entity_name":"GARS","entity_type":"gene"},{"created":"2024-11-26T20:22:13.001787+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2149","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: GARS: Changed phenotypes: Mitochondrial disease (MONDO:0044970), GARS1-related, Spinal muscular atrophy, infantile, James type, MIM# 619042, Charcot-Marie-Tooth disease, type 2D, MIM# 601472, Neuronopathy, distal hereditary motor, type VA, MIM# 600794, Multi-system mitochondrial disorder","entity_name":"GARS","entity_type":"gene"},{"created":"2024-11-26T20:21:46.729541+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.954","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GARS were changed from Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder to Mitochondrial disease (MONDO:0044970), GARS1-related; Spinal muscular atrophy, infantile, James type, MIM# 619042; Charcot-Marie-Tooth disease, type 2D, MIM# 601472; Neuronopathy, distal hereditary motor, type VA, MIM# 600794; Multi-system mitochondrial disorder","entity_name":"GARS","entity_type":"gene"},{"created":"2024-11-26T20:20:26.428842+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC35F1 as Amber List (moderate evidence)","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:20:26.412275+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.2","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35f1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:19:52.614424+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC35F1: Added comment: Likely second individual identified internally at VCGS, AS/Rett-like phenotype and de novo Gly226Arg variant.; Changed rating: AMBER","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:19:37.198763+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC35F1 as Amber List (moderate evidence)","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:19:37.188050+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35f1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:18:53.812455+11:00","panel_name":"Angelman Rett like syndromes","panel_id":41,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SLC35F1: Added comment: Likely second individual identified internally at VCGS, AS/Rett-like phenotype and de novo Gly226Arg variant.; Changed rating: AMBER","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:17:52.902819+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2149","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: SLC35F1 as Amber List (moderate evidence)","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:17:52.890840+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2149","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: slc35f1 has been classified as Amber List (Moderate Evidence).","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-26T20:17:17.398927+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ANTXR1 as ready","entity_name":"ANTXR1","entity_type":"gene"},{"created":"2024-11-26T20:17:17.378891+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: antxr1 has been classified as Red List (Low Evidence).","entity_name":"ANTXR1","entity_type":"gene"},{"created":"2024-11-26T20:17:15.063969+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.42","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ANTXR1 were changed from {Hemangioma, capillary infantile, susceptibility to}, 602089; {Hemangioma, capillary infantile, susceptibility to} to GAPO syndrome MONDO:0009263","entity_name":"ANTXR1","entity_type":"gene"},{"created":"2024-11-26T20:16:57.497315+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.41","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ANTXR1 were set to ","entity_name":"ANTXR1","entity_type":"gene"},{"created":"2024-11-26T20:16:39.443424+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.40","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ANTXR1 was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR1","entity_type":"gene"},{"created":"2024-11-26T20:16:03.212970+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARX as ready","entity_name":"ARX","entity_type":"gene"},{"created":"2024-11-26T20:16:03.176967+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arx has been classified as Red List (Low Evidence).","entity_name":"ARX","entity_type":"gene"},{"created":"2024-11-26T18:06:27.365785+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: CA2: Rating: GREEN; Mode of pathogenicity: None; Publications: 34624559, 33555497, 12566520, 7627193; Phenotypes: Osteopetrosis, autosomal recessive 3, with renal tubular acidosis, MIM#259730; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CA2","entity_type":"gene"},{"created":"2024-11-26T18:03:31.891928+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: BCKDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 7883996, 7672509, 34288399; Phenotypes: Maple syrup urine disease, type Ia, MIM# 248600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BCKDHA","entity_type":"gene"},{"created":"2024-11-26T17:57:23.929727+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: BBS5: Rating: GREEN; Mode of pathogenicity: None; Publications: 19252258, 15137946, 10053027, 15637713; Phenotypes: Bardet-Biedl syndrome 5, MIM#615983, MONDO:0014434; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"BBS5","entity_type":"gene"},{"created":"2024-11-26T17:50:04.349602+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: ATP6AP1: Rating: GREEN; Mode of pathogenicity: None; Publications: 27231034, 32048120; Phenotypes: Immunodeficiency 47, MIM#300972; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"ATP6AP1","entity_type":"gene"},{"created":"2024-11-26T17:45:58.662127+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Melanie Marty","item_type":"entity","text":"reviewed gene: ALDOB: Rating: GREEN; Mode of pathogenicity: None; Publications: 3083321; Phenotypes: Fructose intolerance, hereditary, MIM# 229600; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDOB","entity_type":"gene"},{"created":"2024-11-26T09:45:12.899901+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ARX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ARX","entity_type":"gene"},{"created":"2024-11-26T09:08:48.057223+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ANTXR1: Rating: RED; Mode of pathogenicity: None; Publications: 24664815; Phenotypes: GAPO syndrome MONDO:0009263; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ANTXR1","entity_type":"gene"},{"created":"2024-11-26T08:30:27.719844+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2148","user_name":"Lucy Spencer","item_type":"entity","text":"reviewed gene: SLC35F1: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder, MONDO:0700092, SLC35F1-related; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"SLC35F1","entity_type":"gene"},{"created":"2024-11-25T18:04:03.479983+11:00","panel_name":"Motor Neurone Disease","panel_id":25,"panel_version":"1.24","user_name":"Bryony Thompson","item_type":"entity","text":"Deleted their review","entity_name":"SQSTM1","entity_type":"gene"},{"created":"2024-11-25T17:33:17.151661+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ADGRG1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: bilateral frontoparietal polymicrogyria MONDO:0011738; Mode of inheritance: None","entity_name":"ADGRG1","entity_type":"gene"},{"created":"2024-11-25T17:07:14.132595+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: DCX: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: lissencephaly spectrum disorders MONDO:0018838; Mode of inheritance: None","entity_name":"DCX","entity_type":"gene"},{"created":"2024-11-25T16:17:51.445913+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CTSA: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: galactosialidosis MONDO:0009737; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CTSA","entity_type":"gene"},{"created":"2024-11-25T15:11:46.989907+11:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.953","user_name":"Chris Ciotta","item_type":"entity","text":"reviewed gene: GARS: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Mitochondrial disease (MONDO:0044970), GARS1-related; Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GARS","entity_type":"gene"},{"created":"2024-11-25T14:53:21.683433+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CRB1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"CRB1","entity_type":"gene"},{"created":"2024-11-25T14:15:09.750776+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: COL4A2: Rating: RED; Mode of pathogenicity: None; Publications: 22209247; Phenotypes: Stroke, hemorrhagic MIM#614519; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A2","entity_type":"gene"},{"created":"2024-11-25T13:47:41.348160+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CEP63: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"CEP63","entity_type":"gene"},{"created":"2024-11-25T13:35:43.101531+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.1","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LINC01578 were changed from Neurodevelopmental disorder, MONDO:0700092, CHASERR-related to Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, MIM# 621012","entity_name":"LINC01578","entity_type":"gene"},{"created":"2024-11-25T13:35:01.921640+11:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LINC01578: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, MIM# 621012","entity_name":"LINC01578","entity_type":"gene"},{"created":"2024-11-25T13:34:43.704373+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2148","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LINC01578 were changed from Neurodevelopmental disorder, MONDO:0700092, CHASERR-related to Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, MIM# 621012","entity_name":"LINC01578","entity_type":"gene"},{"created":"2024-11-25T13:34:20.726935+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.2147","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LINC01578: Changed phenotypes: Neurodevelopmental disorder with dysmorphic facies, absent speech and ambulation, and brain abnormalities, MIM# 621012","entity_name":"LINC01578","entity_type":"gene"},{"created":"2024-11-25T12:27:03.635645+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: CENPJ: Rating: RED; Mode of pathogenicity: None; Publications: 20522431; Phenotypes: Seckel syndrome MONDO:0019342; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CENPJ","entity_type":"gene"},{"created":"2024-11-25T11:25:19.641701+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: ACE: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ACE","entity_type":"gene"},{"created":"2024-11-25T11:03:57.895323+11:00","panel_name":"Cerebral vascular malformations","panel_id":3144,"panel_version":"0.39","user_name":"Sangavi Sivagnanasundram","item_type":"entity","text":"reviewed gene: THSD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 27895300; Phenotypes: intracranial berry aneurysm MONDO:0016483; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"THSD1","entity_type":"gene"},{"created":"2024-11-22T16:48:31.297523+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.16","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: MAGT1 as ready","entity_name":"MAGT1","entity_type":"gene"},{"created":"2024-11-22T16:48:31.286466+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.16","user_name":"Ain Roesley","item_type":"entity","text":"Gene: magt1 has been classified as Green List (High Evidence).","entity_name":"MAGT1","entity_type":"gene"},{"created":"2024-11-22T16:48:23.988612+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.16","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: MAGT1 as Green List (high evidence)","entity_name":"MAGT1","entity_type":"gene"},{"created":"2024-11-22T16:48:23.964570+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.16","user_name":"Ain Roesley","item_type":"entity","text":"Gene: magt1 has been classified as Green List (High Evidence).","entity_name":"MAGT1","entity_type":"gene"},{"created":"2024-11-22T16:48:17.299777+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.15","user_name":"Ain Roesley","item_type":"entity","text":"gene: MAGT1 was added\ngene: MAGT1 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: MAGT1 was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPublications for gene: MAGT1 were set to 39060684; 25956530; 34447369\nPhenotypes for gene: MAGT1 were set to Immunodeficiency, X-linked, with magnesium defect, Epstein-Barr virus infection and neoplasia\tMIM#300853\nReview for gene: MAGT1 was set to GREEN\ngene: MAGT1 was marked as current diagnostic\nAdded comment: >5 unrelated males with ALPS-like \nSources: Literature","entity_name":"MAGT1","entity_type":"gene"},{"created":"2024-11-22T16:28:57.662407+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.14","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: KRAS as ready","entity_name":"KRAS","entity_type":"gene"},{"created":"2024-11-22T16:28:57.650958+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.14","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kras has been classified as Green List (High Evidence).","entity_name":"KRAS","entity_type":"gene"},{"created":"2024-11-22T16:28:54.934950+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.14","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: KRAS as Green List (high evidence)","entity_name":"KRAS","entity_type":"gene"},{"created":"2024-11-22T16:28:54.919176+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.14","user_name":"Ain Roesley","item_type":"entity","text":"Gene: kras has been classified as Green List (High Evidence).","entity_name":"KRAS","entity_type":"gene"},{"created":"2024-11-22T16:28:48.533544+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.13","user_name":"Ain Roesley","item_type":"entity","text":"gene: KRAS was added\ngene: KRAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: KRAS was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KRAS were set to 27577878; 39060684; 21079152\nPhenotypes for gene: KRAS were set to RAS-associated autoimmune leukoproliferative disorder\tMIM#614470\nReview for gene: KRAS was set to GREEN\ngene: KRAS was marked as current diagnostic\nAdded comment: Recurrent variant Gly13Cys \r\n\r\nPMID:39060684\r\n2x individuals with atypical ALPS - Gly13Cys \r\n\r\nPMID:27577878\r\n1x de novo mosaic in blood individual with ALPS - Gly13Cys \r\n\r\nPMID:21079152\r\n1x individual with ALPS-like syndrome somatic for Gly13Cys\r\n1x individual with ALPS-like syndrome somatic for Gly12Asp \nSources: Literature","entity_name":"KRAS","entity_type":"gene"},{"created":"2024-11-22T16:13:06.776677+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.12","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: ITK as ready","entity_name":"ITK","entity_type":"gene"},{"created":"2024-11-22T16:13:06.760379+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.12","user_name":"Ain Roesley","item_type":"entity","text":"Gene: itk has been classified as Green List (High Evidence).","entity_name":"ITK","entity_type":"gene"},{"created":"2024-11-22T16:13:04.991113+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.12","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: ITK as Green List (high evidence)","entity_name":"ITK","entity_type":"gene"},{"created":"2024-11-22T16:13:04.980994+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.12","user_name":"Ain Roesley","item_type":"entity","text":"Gene: itk has been classified as Green List (High Evidence).","entity_name":"ITK","entity_type":"gene"},{"created":"2024-11-22T16:12:58.254401+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.11","user_name":"Ain Roesley","item_type":"entity","text":"gene: ITK was added\ngene: ITK was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: ITK was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ITK were set to 19425169; 22289921; 25061172; 26056787; 9311799; 10213685\nPhenotypes for gene: ITK were set to Lymphoproliferative syndrome 1\tMIM#613011\nReview for gene: ITK was set to GREEN\ngene: ITK was marked as current diagnostic\nAdded comment: 7 individuals from 5 unrelated families reported homozygous (missense/ nonsense) ITK variants consistent with Lymphoproliferative syndrome phenotype.\r\n\r\nTwo ITK-deficient mouse models demonstrated reduced T cells (CD4+), causing decreased CD4 to CD8 ratio.\r\n\r\nPatients displayed early onset of features typically including fever, lymphadenopathy, autoimmune disorders, low immunoglobulins and high EBV viral load. \nSources: Literature","entity_name":"ITK","entity_type":"gene"},{"created":"2024-11-22T15:52:23.596390+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.10","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FASLG as Green List (high evidence)","entity_name":"FASLG","entity_type":"gene"},{"created":"2024-11-22T15:52:23.573292+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.10","user_name":"Ain Roesley","item_type":"entity","text":"Gene: faslg has been classified as Green List (High Evidence).","entity_name":"FASLG","entity_type":"gene"},{"created":"2024-11-22T15:52:17.038063+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.9","user_name":"Ain Roesley","item_type":"entity","text":"gene: FASLG was added\ngene: FASLG was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: FASLG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FASLG were set to 16627752; 17605793; 19794494; 8787672; 22857792; 33356695; 26334989; 25451160\nPhenotypes for gene: FASLG were set to Autoimmune lymphoproliferative syndrome, type IB\tMIM#601859\nReview for gene: FASLG was set to GREEN\ngene: FASLG was marked as current diagnostic\nAdded comment: Sufficient evidence for AR gene-disease association. Limited evidence for AD gene-disease association\r\nPMID: 22857792, 16627752, 26334989, 25451160 - 4 unrelated ALPS families reported with biallelic variants with a loss of function mechanism\r\nPMID: 11457890, 19794494 - supporting deficient mouse models\r\nPMID: 8787672, 17605793 - a single case (p.Met158_Glu185del) and a single family (p.Arg156Gly) reported with heterozygous variants, supporting dominant inheritance of dominant-negative variants. Another case reported with a rare VUS (p.Met86Val) that didn't alter protein function. \nSources: Literature","entity_name":"FASLG","entity_type":"gene"},{"created":"2024-11-22T15:46:46.346930+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.8","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: FADD as ready","entity_name":"FADD","entity_type":"gene"},{"created":"2024-11-22T15:46:46.331186+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.8","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fadd has been classified as Green List (High Evidence).","entity_name":"FADD","entity_type":"gene"},{"created":"2024-11-22T15:46:43.118321+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.8","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FADD as Green List (high evidence)","entity_name":"FADD","entity_type":"gene"},{"created":"2024-11-22T15:46:43.105635+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.8","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fadd has been classified as Green List (High Evidence).","entity_name":"FADD","entity_type":"gene"},{"created":"2024-11-22T15:46:37.986506+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.7","user_name":"Ain Roesley","item_type":"entity","text":"gene: FADD was added\ngene: FADD was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: FADD was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: FADD were set to 21109225; 25794656; 32350755; 32971525\nPhenotypes for gene: FADD were set to FADD-related immunodeficiency MONDO:0013408\nReview for gene: FADD was set to GREEN\ngene: FADD was marked as current diagnostic\nAdded comment: 3 families reported so far. 2 apparently unrelated consanguineous Pakistani families with autoimmune lymphoproliferative syndrome both segregating homozygous p.Cys105Trp. A single compound het case with p.Cys105Arg and a frameshift variant. Also, FADD deficient mouse models support a role in immunodeficiency. Null mice are embryonic lethal. \nSources: Literature","entity_name":"FADD","entity_type":"gene"},{"created":"2024-11-22T15:45:36.383220+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.6","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CASP10 as ready","entity_name":"CASP10","entity_type":"gene"},{"created":"2024-11-22T15:45:36.365771+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.6","user_name":"Ain Roesley","item_type":"entity","text":"Gene: casp10 has been classified as Green List (High Evidence).","entity_name":"CASP10","entity_type":"gene"},{"created":"2024-11-22T15:45:34.699648+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.6","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CASP10 as Green List (high evidence)","entity_name":"CASP10","entity_type":"gene"},{"created":"2024-11-22T15:45:34.687850+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.6","user_name":"Ain Roesley","item_type":"entity","text":"Gene: casp10 has been classified as Green List (High Evidence).","entity_name":"CASP10","entity_type":"gene"},{"created":"2024-11-22T15:45:26.028334+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.5","user_name":"Ain Roesley","item_type":"entity","text":"gene: CASP10 was added\ngene: CASP10 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: CASP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CASP10 were set to 34329798; 34384744; 20301287\nPhenotypes for gene: CASP10 were set to Autoimmune lymphoproliferative syndrome, type II MIM#603909\nReview for gene: CASP10 was set to GREEN\ngene: CASP10 was marked as current diagnostic\nAdded comment: Total of 15 individuals included in the review.\r\n\r\nAsymptomatic carriers noted. \nSources: Literature","entity_name":"CASP10","entity_type":"gene"},{"created":"2024-11-22T15:44:33.285797+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.4","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: CASP8 as ready","entity_name":"CASP8","entity_type":"gene"},{"created":"2024-11-22T15:44:33.272591+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.4","user_name":"Ain Roesley","item_type":"entity","text":"Gene: casp8 has been classified as Amber List (Moderate Evidence).","entity_name":"CASP8","entity_type":"gene"},{"created":"2024-11-22T15:44:28.521696+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.4","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: CASP8 as Amber List (moderate evidence)","entity_name":"CASP8","entity_type":"gene"},{"created":"2024-11-22T15:44:28.493010+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.4","user_name":"Ain Roesley","item_type":"entity","text":"Gene: casp8 has been classified as Amber List (Moderate Evidence).","entity_name":"CASP8","entity_type":"gene"},{"created":"2024-11-22T15:44:12.944329+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.3","user_name":"Ain Roesley","item_type":"entity","text":"gene: CASP8 was added\ngene: CASP8 was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: CASP8 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CASP8 were set to 12353035; 25814141; 12654726; 17213198; 16148088\nPhenotypes for gene: CASP8 were set to Autoimmune lymphoproliferative syndrome, type IIB  MIM#607271\nReview for gene: CASP8 was set to AMBER\ngene: CASP8 was marked as current diagnostic\nAdded comment: Amber due to functional studies\r\n\r\n1 family (the 2nd family reported in PMID:25814141 was found to be distantly related to the one in PMID:12353035)\r\n\r\nMice with targeted T cell and B cell caspase-8 deficiency present normal thymocyte development but a marked decrease in peripheral blood T-cells. Besides, when challenged with the lymphocytic choriomeningitis virus (LCMV), these animals showed a significantly impaired immune response to the infection that included impaired CD8 cell expansion and an abrogated ability to generate virus-specific CD8+ cytotoxic T-cells. \nSources: Literature","entity_name":"CASP8","entity_type":"gene"},{"created":"2024-11-22T15:41:20.713020+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.2","user_name":"Ain Roesley","item_type":"entity","text":"Marked gene: FAS as ready","entity_name":"FAS","entity_type":"gene"},{"created":"2024-11-22T15:41:20.696739+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.2","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fas has been classified as Green List (High Evidence).","entity_name":"FAS","entity_type":"gene"},{"created":"2024-11-22T15:41:19.231508+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.2","user_name":"Ain Roesley","item_type":"entity","text":"Classified gene: FAS as Green List (high evidence)","entity_name":"FAS","entity_type":"gene"},{"created":"2024-11-22T15:41:19.216900+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.2","user_name":"Ain Roesley","item_type":"entity","text":"Gene: fas has been classified as Green List (High Evidence).","entity_name":"FAS","entity_type":"gene"},{"created":"2024-11-22T15:40:59.026071+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.1","user_name":"Ain Roesley","item_type":"entity","text":"gene: FAS was added\ngene: FAS was added to Autoimmune Lymphoproliferative Syndrome. Sources: Literature\nMode of inheritance for gene: FAS was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPhenotypes for gene: FAS were set to Autoimmune lymphoproliferative syndrome, type IA\tMIM#601859\nReview for gene: FAS was set to GREEN\ngene: FAS was marked as current diagnostic\nAdded comment: Well established association \nSources: Literature","entity_name":"FAS","entity_type":"gene"},{"created":"2024-11-22T15:36:20.727232+11:00","panel_name":"Autoimmune Lymphoproliferative Syndrome","panel_id":4389,"panel_version":"0.0","user_name":"Ain Roesley","item_type":"panel","text":"Added Panel Autoimmune Lymphoproliferative Syndrome","entity_name":null,"entity_type":null}]}