{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=389","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=387","results":[{"created":"2024-09-13T16:18:02.294368+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.300","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gmppb has been classified as Green List (High Evidence).","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-09-13T16:17:58.190679+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.300","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GMPPB were changed from Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14, 615352 (3) to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350; Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351; Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-09-13T16:17:41.589058+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.299","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GMPPB were set to ","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-09-13T16:17:24.642695+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.298","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GMPPB: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-09-13T16:16:48.882045+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.298","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCAT as ready","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T16:16:48.865001+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.298","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcat has been classified as Green List (High Evidence).","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T16:16:44.164351+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.298","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LCAT were changed from Norum disease, 245900 (3) to Norum disease, MIM#245900; Fish-eye disease, MIM# 136120","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T16:16:23.292341+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.297","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LCAT were set to ","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T16:16:11.723005+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Tag for review tag was added to gene: LCAT.","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T16:16:02.264194+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Fish-eye disease, MIM# 136120; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T16:15:22.057592+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6217","user_name":"Ken Lee Wan","item_type":"entity","text":"changed review comment from: DYNC1H1 is definitively associated with autosomal dominant dyneinopathy.  \r\n\r\nA spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. \r\n\r\nDYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT) and less frequently, intellectual disability and autism. \r\n\r\n(https://search.clinicalgenome.org/CCID:004713) (http://purl.obolibrary.org/obo/MONDO_1040031) (OMIM: 600112); to: DYNC1H1 is definitively associated with autosomal dominant dyneinopathy.  \r\n\r\nA spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. \r\n\r\nDYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT) and less frequently, intellectual disability and autism. \r\n\r\nMechanism of disease: gain of function \r\n(https://search.clinicalgenome.org/CCID:004713) (http://purl.obolibrary.org/obo/MONDO_1040031) (OMIM: 600112)","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T16:12:52.030742+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZMYND10 as ready","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2024-09-13T16:12:52.014541+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zmynd10 has been classified as Green List (High Evidence).","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2024-09-13T16:12:48.870174+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.296","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZMYND10 were changed from Ciliary dyskinesia, primary, 22, 615444 (3) to Ciliary dyskinesia, primary, 22 (MIM#615444)","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2024-09-13T16:12:37.137701+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.295","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZMYND10 were set to ","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2024-09-13T16:12:00.243787+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.294","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MRE11 as ready","entity_name":"MRE11","entity_type":"gene"},{"created":"2024-09-13T16:12:00.220804+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.294","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: mre11 has been classified as Green List (High Evidence).","entity_name":"MRE11","entity_type":"gene"},{"created":"2024-09-13T16:11:56.299008+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.294","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MRE11 were set to ","entity_name":"MRE11","entity_type":"gene"},{"created":"2024-09-13T16:11:22.638275+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.293","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH18A1 as ready","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2024-09-13T16:11:22.621161+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.293","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh18a1 has been classified as Green List (High Evidence).","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2024-09-13T16:11:17.226425+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.293","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ALDH18A1 were changed from Spastic paraplegia 9B, autosomal recessive, 616586 (3) to Cutis laxa, autosomal recessive, type IIIA (MIM#219150); Spastic paraplegia 9B, autosomal recessive (MIM#616586)","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2024-09-13T16:10:54.813432+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.292","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH18A1 were set to ","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2024-09-13T16:10:22.225398+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.291","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ALDH1A3 as ready","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2024-09-13T16:10:22.198612+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.291","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aldh1a3 has been classified as Green List (High Evidence).","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2024-09-13T16:10:18.067040+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.291","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ALDH1A3 were set to ","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2024-09-13T16:09:49.184030+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.290","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP1S2 as ready","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-09-13T16:09:49.171284+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.290","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap1s2 has been classified as Green List (High Evidence).","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-09-13T16:09:04.799482+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.290","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AP1S2 were set to ","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-09-13T16:08:25.099267+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6217","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DIS3L2 as ready","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T16:08:25.078714+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6217","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dis3l2 has been classified as Green List (High Evidence).","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T16:08:16.455725+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6217","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DIS3L2 were changed from  to Perlman syndrome MONDO:0009965","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T16:07:35.325291+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6216","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DIS3L2 were set to ","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T16:07:05.130917+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6215","user_name":"Ken Lee Wan","item_type":"entity","text":"changed review comment from: Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development, and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (MIM: 616632).  \r\n\r\nBiallelic loss-of-function DIAPH1 variants have been reported in 3 Middle Eastern consanguineous families with a unique syndrome of early onset seizures, progressive microcephaly, intellectual disability and severe visual impairment (PMIDs: 24781755; 26463574). Western blot analysis showed lack of the mDia1 protein for affected individuals (PMID: 24781755).; to: Seizures, cortical blindness, and microcephaly syndrome (SCBMS) is an autosomal recessive neurodevelopmental disorder characterized by microcephaly, early-onset seizures, severely delayed psychomotor development and cortical blindness. Affected individuals also tend to show poor overall growth with short stature (MIM: 616632).  \r\n\r\nBiallelic loss-of-function DIAPH1 variants have been reported in 3 Middle Eastern consanguineous families with a unique syndrome of early onset seizures, progressive microcephaly, intellectual disability and severe visual impairment (PMIDs: 24781755; 26463574). Western blot analysis showed lack of the mDia1 protein for affected individuals (PMID: 24781755).","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T16:06:52.265277+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6215","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DIS3L2 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T16:04:37.628146+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6214","user_name":"Ken Lee Wan","item_type":"entity","text":"changed review comment from: DNMT3B is a well-established gene disease association with autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome 1 (https://search.clinicalgenome.org/CCID:004692). \r\n\r\nImmunodeficiency, centromeric instability, and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9, and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. The most frequent symptoms of the syndrome are facial dysmorphism, intellectual disability, recurrent and prolonged respiratory infections, infections of the skin and digestive system and variable immune deficiency with a constant decrease of IgA (MIM: 242860). \r\n\r\nMechanism of disease: loss of function; to: DNMT3B is a well-established gene disease association with autosomal recessive immunodeficiency-centromeric instability-facial anomalies syndrome 1 (https://search.clinicalgenome.org/CCID:004692). \r\n\r\nImmunodeficiency, centromeric instability and facial dysmorphism (ICF) syndrome is a rare autosomal recessive disease characterized by facial dysmorphism, immunoglobulin deficiency and branching of chromosomes 1, 9 and 16 after phytohemagglutinin (PHA) stimulation of lymphocytes. The most frequent symptoms of the syndrome are facial dysmorphism, intellectual disability, recurrent and prolonged respiratory infections, infections of the skin and digestive system and variable immune deficiency with a constant decrease of IgA (MIM: 242860). \r\n\r\nMechanism of disease: loss of function","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2024-09-13T16:03:42.819671+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6214","user_name":"Ken Lee Wan","item_type":"entity","text":"changed review comment from: DYNC1H1 is definitively associated with autosomal dominant dyneinopathy.  \r\n\r\nA spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. \r\n\r\nDYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. \r\n\r\n(https://search.clinicalgenome.org/CCID:004713) (http://purl.obolibrary.org/obo/MONDO_1040031) (OMIM: 600112); to: DYNC1H1 is definitively associated with autosomal dominant dyneinopathy.  \r\n\r\nA spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. \r\n\r\nDYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT) and less frequently, intellectual disability and autism. \r\n\r\n(https://search.clinicalgenome.org/CCID:004713) (http://purl.obolibrary.org/obo/MONDO_1040031) (OMIM: 600112)","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T16:02:50.332038+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6214","user_name":"Ken Lee Wan","item_type":"entity","text":"changed review comment from: DYNC1H1 is definitively associated with autosomal dominant dyneinopathy.  \r\n\r\nA spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. \r\n\r\nDYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. \r\n\r\n(https://search.clinicalgenome.org/CCID:004713) (http://purl.obolibrary.org/obo/MONDO_1040031) (OMIM#600112); to: DYNC1H1 is definitively associated with autosomal dominant dyneinopathy.  \r\n\r\nA spectrum of diseases related to monoallelic variants in DYNC1H1 and characterized by variable neuromuscular and/or neurodevelopmental presentations. \r\n\r\nDYNC1H1 have been reported with a predominantly neuromuscular presentation, including congenital myopathy, spinal muscular atrophy, Charcot-Marie-Tooth (CMT), and less frequently, intellectual disability and autism. \r\n\r\n(https://search.clinicalgenome.org/CCID:004713) (http://purl.obolibrary.org/obo/MONDO_1040031) (OMIM: 600112)","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T15:56:50.286803+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6214","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: DYNC1H1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: dyneinopathy MONDO:1040031; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"DYNC1H1","entity_type":"gene"},{"created":"2024-09-13T15:54:36.642887+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6214","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DIS3L2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T15:53:37.673090+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6213","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJC19 as ready","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2024-09-13T15:53:37.659418+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6213","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajc19 has been classified as Green List (High Evidence).","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2024-09-13T15:53:33.443454+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6213","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC19 were changed from 3-methylglutaconic aciduria type 5 MONDO:0012435 to 3-methylglutaconic aciduria type 5 MONDO:0012435","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2024-09-13T15:53:04.592190+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6212","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJC19 were changed from  to 3-methylglutaconic aciduria type 5 MONDO:0012435","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2024-09-13T15:51:50.288775+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6211","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC19 was changed from BIALLELIC, autosomal or pseudoautosomal to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2024-09-13T15:51:06.421338+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6210","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJC19 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2024-09-13T15:51:00.542796+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.289","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PSAT1: Rating: GREEN; Mode of pathogenicity: None; Publications: 32077105, 17436247, 25152457; Phenotypes: Phosphoserine aminotransferase deficiency MIM#610992, Neu-Laxova syndrome 2 MIM#616038; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PSAT1","entity_type":"gene"},{"created":"2024-09-13T15:50:03.949819+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.289","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIP5K1C as ready","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2024-09-13T15:50:03.931350+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.289","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pip5k1c has been classified as Amber List (Moderate Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2024-09-13T15:49:58.487869+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.289","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PIP5K1C were set to ","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2024-09-13T15:49:33.869889+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIP5K1C as Amber List (moderate evidence)","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2024-09-13T15:49:33.859763+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.288","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pip5k1c has been classified as Amber List (Moderate Evidence).","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2024-09-13T15:49:21.879441+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PIP5K1C: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Lethal congenital contractural syndrome 3 (MIM#611369); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2024-09-13T15:47:45.431902+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNMT3B as ready","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2024-09-13T15:47:45.412799+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnmt3b has been classified as Green List (High Evidence).","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2024-09-13T15:47:40.751442+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNMT3B were changed from  to immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0009454","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2024-09-13T15:46:58.500087+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6208","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNMT3B was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2024-09-13T15:36:08.985293+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6207","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: DNMT3B: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: immunodeficiency-centromeric instability-facial anomalies syndrome 1 MONDO:0009454; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DNMT3B","entity_type":"gene"},{"created":"2024-09-13T15:30:17.616757+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: PIP5K1C: Rating: RED; Mode of pathogenicity: None; Publications: 17701898, 38491417; Phenotypes: Lethal congenital contractural syndrome 3 (MIM#611369); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PIP5K1C","entity_type":"gene"},{"created":"2024-09-13T15:09:55.363216+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6207","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: DNAJC19: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: 3-methylglutaconic aciduria type 5 MONDO:0012435; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DNAJC19","entity_type":"gene"},{"created":"2024-09-13T15:05:37.928014+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6207","user_name":"Ken Lee Wan","item_type":"entity","text":"changed review comment from: Perlman syndrome is a well-established gene-disease association with autosomal recessive Perlman syndrome (https://search.clinicalgenome.org/CCID:004649) \r\n\r\nPerlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic and show organomegaly, characteristic facial dysmorphisms, renal anomalies, frequent neurodevelopmental delay and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumour (OMIM: 267000). \r\n\r\nPMID 16278893: 6 out of 22 patients have developmental delay \r\n\r\nPMID 22306653: 5 surviving patients with at least one loss-of-function variant identified have developmental delay.  \r\n\r\nPMID 28328139: 1 surviving patient with compound heterozygous (splice site and missense variants) has developmental delay \r\n\r\nMechanism of disease causation: loss of function; to: DIS3L2 is a well-established gene-disease association with autosomal recessive Perlman syndrome (https://search.clinicalgenome.org/CCID:004649) \r\n\r\nPerlman syndrome (PRLMNS) is an autosomal recessive congenital overgrowth syndrome with similarities to Beckwith-Wiedemann syndrome (BWS; 130650). Affected children are large at birth, are hypotonic and show organomegaly, characteristic facial dysmorphisms, renal anomalies, frequent neurodevelopmental delay and high neonatal mortality. Perlman syndrome is associated with a high risk of Wilms tumour (OMIM: 267000). \r\n\r\nPMID 16278893: 6 out of 22 patients have developmental delay \r\n\r\nPMID 22306653: 5 surviving patients with at least one loss-of-function variant identified have developmental delay.  \r\n\r\nPMID 28328139: 1 surviving patient with compound heterozygous (splice site and missense variants) has developmental delay \r\n\r\nMechanism of disease causation: loss of function","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T14:56:00.299887+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6207","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: DIS3L2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16278893, 22306653, 28328139; Phenotypes: Perlman syndrome MONDO:0009965; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DIS3L2","entity_type":"gene"},{"created":"2024-09-13T14:30:02.036544+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: AP1S2: Rating: GREEN; Mode of pathogenicity: None; Publications: 30714330, 23756445, 17186471; Phenotypes: Pettigrew syndrome, MIM# 304340; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"AP1S2","entity_type":"gene"},{"created":"2024-09-13T14:26:08.969998+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ALDH1A3: Rating: GREEN; Mode of pathogenicity: None; Publications: 23312594, 30200890; Phenotypes: Microphthalmia, isolated 8 (MIM#615113); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ALDH1A3","entity_type":"gene"},{"created":"2024-09-13T14:11:09.023988+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ALDH18A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24913064, 18478038, 26026163; Phenotypes: Cutis laxa, autosomal recessive, type IIIA (MIM#219150), Spastic paraplegia 9B, autosomal recessive (MIM#616586); Mode of inheritance: None","entity_name":"ALDH18A1","entity_type":"gene"},{"created":"2024-09-13T14:03:24.900199+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: MRE11: Rating: GREEN; Mode of pathogenicity: None; Publications: 10612394, 11371508, 15269180, 22863007, 24332946, 21227757; Phenotypes: Ataxia-telangiectasia-like disorder 1 (MIM#604391); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MRE11","entity_type":"gene"},{"created":"2024-09-13T13:22:42.915364+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DIP2C as Amber List (moderate evidence)","entity_name":"DIP2C","entity_type":"gene"},{"created":"2024-09-13T13:22:42.900140+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dip2c has been classified as Amber List (Moderate Evidence).","entity_name":"DIP2C","entity_type":"gene"},{"created":"2024-09-13T13:21:58.156760+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:TRIM8 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:52.374768+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:TAB2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:47.343755+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SPTBN1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:41.504919+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SMARCA2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:35.521200+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SLC6A1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:30.328659+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SETD5 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:25.540304+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SETD2 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:20.356561+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.19","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SET from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:15.048226+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.18","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:SCN8A from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:09.885567+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.17","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:RAF1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:21:05.025293+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.16","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:PPP2R5D from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:59.770406+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.15","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:NSD1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:54.463235+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.14","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:KCND3 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:48.927073+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.13","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:GNAI1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:43.708488+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.12","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:FOXP1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:38.312248+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.11","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:FBXW7 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:33.166021+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.10","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:EHMT1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:28.405283+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.9","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CAMTA1 from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:23.155188+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CAMK2A from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T13:20:17.162482+10:00","panel_name":"Speech apraxia","panel_id":4290,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"panel","text":"removed gene:CACNA1A from the panel","entity_name":null,"entity_type":null},{"created":"2024-09-13T12:16:57.053000+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: ZMYND10: Rating: GREEN; Mode of pathogenicity: None; Publications: 23891471, 23891469; Phenotypes: Ciliary dyskinesia, primary, 22 (MIM#615444); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"ZMYND10","entity_type":"gene"},{"created":"2024-09-13T12:07:35.211955+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"changed review comment from: Well established gene-disease association.\r\n\r\nA disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. \r\n\r\nOnset is generally in adulthood; to: Well established gene-disease association.\r\n\r\nA disorder of lipoprotein metabolism that causes a typical triad of diffuse corneal opacities, target cell hemolytic anemia, and proteinuria with renal failure. \r\n\r\nOnset/diagnosis is generally in adulthood","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T12:07:25.336661+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: LCAT: Rating: AMBER; Mode of pathogenicity: None; Publications: 30720493, 6624548, 34256778; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T12:05:03.061680+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"Deleted their review","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T11:55:48.393561+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: LCAT: Rating: GREEN; Mode of pathogenicity: None; Publications: 30720493, 6624548; Phenotypes: Norum disease (MIM#245900); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"LCAT","entity_type":"gene"},{"created":"2024-09-13T11:46:50.442868+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: GMPPB: Rating: ; Mode of pathogenicity: None; Publications: 36833299; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 14 615350, Muscular dystrophy-dystroglycanopathy (congenital with impaired intellectual development), type B, 14 615351, Muscular dystrophy-dystroglycanopathy (limb-girdle), type C, 14 615352; Mode of inheritance: None","entity_name":"GMPPB","entity_type":"gene"},{"created":"2024-09-13T11:26:38.005696+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: GMPPA: Rating: GREEN; Mode of pathogenicity: None; Publications: 24035193, 28574218; Phenotypes: Alacrima, achalasia, and impaired intellectual development syndrome (MIM#615510); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GMPPA","entity_type":"gene"},{"created":"2024-09-13T11:25:43.475178+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review; to: ClinGen definitive. Pancreatic cancer reported in condition. \r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).\r\n\r\nSources: Expert list, Expert Review","entity_name":"ATM","entity_type":"gene"},{"created":"2024-09-13T11:25:05.734896+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen definitive. Pancreatic cancer reported in condition. \r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy. Genes most commonly associated with ACE include ATM, CHEK2, and TP53 (PMID: 36040522).\r\n\r\nSources: Expert list, Expert Review; to: ClinGen definitive. Pancreatic cancer reported in condition. \r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).\r\n\r\nSources: Expert list, Expert Review","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-13T11:24:42.897557+10:00","panel_name":"Medulloblastoma","panel_id":3280,"panel_version":"0.25","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen definitive. Medulloblastoma reported in condition.\r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy. Genes most commonly associated with ACE include ATM, CHEK2, and TP53 (PMID: 36040522).; to: ClinGen definitive. Medulloblastoma reported in condition.\r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy (PMID: 36040522).","entity_name":"TP53","entity_type":"gene"},{"created":"2024-09-13T11:20:51.814157+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6207","user_name":"Ken Lee Wan","item_type":"entity","text":"reviewed gene: DIAPH1: Rating: AMBER; Mode of pathogenicity: None; Publications: 24781755, 26463574; Phenotypes: progressive microcephaly-seizures-cortical blindness-developmental delay syndrome MONDO:0014714; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"DIAPH1","entity_type":"gene"},{"created":"2024-09-13T11:20:35.522746+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.287","user_name":"Lauren Rogers","item_type":"entity","text":"reviewed gene: GAS8: Rating: GREEN; Mode of pathogenicity: None; Publications: 38873586, 26387594, 27120127; Phenotypes: Ciliary dyskinesia, primary, 33 MIM#616726; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GAS8","entity_type":"gene"},{"created":"2024-09-13T09:58:26.961168+10:00","panel_name":"Pancreatic Cancer","panel_id":4370,"panel_version":"0.24","user_name":"Chirag Patel","item_type":"entity","text":"changed review comment from: ClinGen definitive. Pancreatic cancer reported in condition. \nSources: Expert list, Expert Review; to: ClinGen definitive. Pancreatic cancer reported in condition. \r\n\r\nConsider possibility that an identified variant could represent ACE (aberrant clonal expansion), which can be due to clonal haematopoiesis of indeterminate potential (CHIP) or an occult hematologic malignancy, especially in older patients who have undergone prior chemotherapy. Genes most commonly associated with ACE include ATM, CHEK2, and TP53 (PMID: 36040522).\r\n\r\nSources: Expert list, Expert Review","entity_name":"TP53","entity_type":"gene"}]}