{"count":221379,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=340","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=338","results":[{"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},{"created":"2024-11-21T20:22:52.970944+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: IFIH1 as ready","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-11-21T20:22:52.958786+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ifih1 has been classified as Green List (High Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-11-21T20:22:48.062606+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: IFIH1 as Green List (high evidence)","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-11-21T20:22:48.051331+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.159","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: ifih1 has been classified as Green List (High Evidence).","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-11-21T20:21:54.871167+11:00","panel_name":"Defects of innate immunity","panel_id":231,"panel_version":"0.158","user_name":"Bryony Thompson","item_type":"entity","text":"gene: IFIH1 was added\ngene: IFIH1 was added to Defects of innate immunity. Sources: Expert list\nMode of inheritance for gene: IFIH1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: IFIH1 were set to 28606988; 29018476; 28716935; 34185153\nPhenotypes for gene: IFIH1 were set to Immunodeficiency 95 MIM#619773\nReview for gene: IFIH1 was set to GREEN\nAdded comment: Biallelic loss of function variants cause a predisposition to severe viral infections. IUIS IEI committee classify the condition as a defect in intrinsic and innate immunity. \nSources: Expert list","entity_name":"IFIH1","entity_type":"gene"},{"created":"2024-11-21T19:54:54.402411+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: GCH1 as ready","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-11-21T19:54:54.397584+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Biallelic variants in GCH1 typically result in severe deficiency of GTPCH activity, and result in hyperphenylalaninemia due to secondary PAH deficiency. This can be identified by newborn screening. However, patients with phenotypes that are intermediate between the classic DRD and severe GTPCH deficiency symptoms have been described, such those with severe DRD and additional neurological features but without hyperphenylalaninemia (for review, see Table in Brüggemann et al 2012, PMID 22473768). Because the mechanism of disease in both the monoallelic and biallelic cases is loss of function of GTPCH, and there is a range of GTPCH activity that can cause disease, the decision was made to curate GCH1 for GTPCH deficiency with semi-dominant inheritance. Note that heterozygous parents of biallelic individuals are usually reported as unaffected, although there are some exceptions (Furukawa et al, 1998, PMID 9667588; Bodzioch et al, 2010, PMID 20842687). Reduced penetrance has been reported for individuals with monoallelic GCH1 variants, with penetrance varying according to age and diagnostic criteria. In addition, some variants (e.g. p.Arg184His and p.Lys224Arg) have been reported in monallelic and biallelic individuals. This data was presented to the ClinGen Lumping and Splitting Working Group on November 3, 2020 and there was agreement that GTPCH deficiency should be curated as a semi-dominant trait, including individuals with monoallelic and biallelic GCH1 variants.","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-11-21T19:54:54.358646+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Lilian Downie","item_type":"entity","text":"Gene: gch1 has been classified as Green List (High Evidence).","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-11-21T19:54:46.978147+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.592","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: GCH1 were changed from Dystonia, DOPA-responsive, with or without hyperphenylalaninemia, 128230 (3) to GTP cyclohydrolase I deficiency MONDO:0100184","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-11-21T19:51:37.722278+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.591","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: GCH1 were set to ","entity_name":"GCH1","entity_type":"gene"},{"created":"2024-11-21T19:50:20.742706+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.590","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: ALS2 as ready","entity_name":"ALS2","entity_type":"gene"},{"created":"2024-11-21T19:50:20.720776+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.590","user_name":"Lilian Downie","item_type":"entity","text":"Gene: als2 has been classified as Green List (High Evidence).","entity_name":"ALS2","entity_type":"gene"},{"created":"2024-11-21T19:50:15.854617+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.590","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: ALS2 were changed from Primary lateral sclerosis, juvenile, 606353 (3) to ALS2-related motor neuron disease (MONDO:0100227)","entity_name":"ALS2","entity_type":"gene"},{"created":"2024-11-21T19:49:18.927758+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.589","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: ALS2 were set to ","entity_name":"ALS2","entity_type":"gene"},{"created":"2024-11-21T19:47:45.496772+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.588","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: F7 as ready","entity_name":"F7","entity_type":"gene"},{"created":"2024-11-21T19:47:45.486340+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.588","user_name":"Lilian Downie","item_type":"entity","text":"Gene: f7 has been classified as Green List (High Evidence).","entity_name":"F7","entity_type":"gene"},{"created":"2024-11-21T19:46:51.225216+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.588","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FARS2 as ready","entity_name":"FARS2","entity_type":"gene"},{"created":"2024-11-21T19:46:51.214040+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.588","user_name":"Lilian Downie","item_type":"entity","text":"Gene: fars2 has been classified as Green List (High Evidence).","entity_name":"FARS2","entity_type":"gene"},{"created":"2024-11-21T19:46:45.387917+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.588","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: FARS2 were changed from Combined oxidative phosphorylation deficiency 14, 614946 (3) to Combined oxidative phosphorylation deficiency 14 (MIM#614946); Spastic paraplegia 77 (MIM#617046)","entity_name":"FARS2","entity_type":"gene"},{"created":"2024-11-21T19:46:21.312875+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.587","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FARS2 were set to ","entity_name":"FARS2","entity_type":"gene"},{"created":"2024-11-21T19:44:43.486573+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.586","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: FKRP as ready","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:44:43.475377+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.586","user_name":"Lilian Downie","item_type":"entity","text":"Gene: fkrp has been classified as Green List (High Evidence).","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:44:31.150337+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.586","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: FKRP were changed from Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 5, 613153 (3) to Myopathy caused by variation in FKRP MONDO:0700066","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:44:02.471476+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.585","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FKRP were set to 38277301","entity_name":"FKRP","entity_type":"gene"},{"created":"2024-11-21T19:42:36.297720+11:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.584","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: FKRP were set to ","entity_name":"FKRP","entity_type":"gene"}]}