{"count":221416,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=402","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=400","results":[{"created":"2024-08-31T17:04:24.523911+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1973","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: plekhm2 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:03:29.168908+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1973","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PLEKHM2 as Amber List (moderate evidence)","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:03:29.156863+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1973","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: plekhm2 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:03:09.875655+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: PLEKHM2 as ready","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:03:09.858542+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: plekhm2 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:02:34.860599+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1972","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLEKHM2 was added\ngene: PLEKHM2 was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: PLEKHM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHM2 were set to 35862026; 26464484; 38942823; 38490981; 37349842\nPhenotypes for gene: PLEKHM2 were set to Dilated cardiomyopathy MONDO:0005021\nReview for gene: PLEKHM2 was set to AMBER\nAdded comment: 2 unrelated families reported with DCM and supporting functional evidence\r\nPMID: 35862026 - 21 yo with DCM with bialleic PLEKHM2 variants. Loss PLEKHM2 expression was found in the proband’s myocardial tissue\r\n\r\nPMID: 26464484 - a homozygous frameshift variant (p.Lys645AlafsTer12) segregates with early-onset (adolescent) DCM and LVNC in a large consanguineous Bedouin family\r\n\r\nPMID: 38942823 - murine model suggests Plekhm2 acts as an autophagy modulator in cardiofibroblasts\r\n\r\nPMID: 38490981, 37349842 - supportive PLEKHM2 knockout iPSC-cardiomyocyte models \nSources: Literature","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:01:25.600977+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: PLEKHM2 as Amber List (moderate evidence)","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:01:25.579895+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.37","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: plekhm2 has been classified as Amber List (Moderate Evidence).","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T17:00:51.577184+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.36","user_name":"Bryony Thompson","item_type":"entity","text":"gene: PLEKHM2 was added\ngene: PLEKHM2 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: PLEKHM2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: PLEKHM2 were set to 35862026; 26464484; 38942823; 38490981; 37349842\nPhenotypes for gene: PLEKHM2 were set to Dilated cardiomyopathy MONDO:0005021\nReview for gene: PLEKHM2 was set to AMBER\nAdded comment: 2 unrelated families reported with DCM and supporting functional evidence\r\nPMID: 35862026 - 21 yo with DCM with bialleic PLEKHM2 variants. Loss PLEKHM2 expression was found in the proband’s myocardial tissue\r\n\r\nPMID: 26464484 - a homozygous frameshift variant (p.Lys645AlafsTer12) segregates with early-onset (adolescent) DCM and LVNC in a large consanguineous Bedouin family \r\n\r\nPMID: 38942823 - murine model suggests Plekhm2 acts as an autophagy modulator in cardiofibroblasts\r\n\r\nPMID: 38490981, 37349842 - supportive PLEKHM2 knockout iPSC-cardiomyocyte models \nSources: Literature","entity_name":"PLEKHM2","entity_type":"gene"},{"created":"2024-08-31T16:28:10.477676+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.35","user_name":"Bryony Thompson","item_type":"entity","text":"Marked gene: BMP10 as ready","entity_name":"BMP10","entity_type":"gene"},{"created":"2024-08-31T16:28:10.448536+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.35","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: bmp10 has been classified as Red List (Low Evidence).","entity_name":"BMP10","entity_type":"gene"},{"created":"2024-08-31T16:12:40.361120+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.35","user_name":"Bryony Thompson","item_type":"entity","text":"gene: BMP10 was added\ngene: BMP10 was added to Dilated Cardiomyopathy. Sources: Literature\nMode of inheritance for gene: BMP10 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: BMP10 were set to 36673052\nPhenotypes for gene: BMP10 were set to Dilated cardiomyopathy MONDO:0005021\nReview for gene: BMP10 was set to RED\nAdded comment: A single family cosegregating NM_014482.3:c.166C > T;p.(Gln56*) with DCM. \nSources: Literature","entity_name":"BMP10","entity_type":"gene"},{"created":"2024-08-31T15:56:14.641279+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Publications for gene: NKX2-5 were set to 30354339; 28690296; 25503402; 27855642","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2024-08-31T15:55:52.265402+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Classified gene: NKX2-5 as Green List (high evidence)","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2024-08-31T15:55:52.232447+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.34","user_name":"Bryony Thompson","item_type":"entity","text":"Gene: nkx2-5 has been classified as Green List (High Evidence).","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2024-08-31T15:55:15.693506+10:00","panel_name":"Dilated Cardiomyopathy","panel_id":95,"panel_version":"1.33","user_name":"Bryony Thompson","item_type":"entity","text":"reviewed gene: NKX2-5: Rating: GREEN; Mode of pathogenicity: None; Publications: 39018455, 37326999, 25503402, 23661673, 27855642, 30354339; Phenotypes: Dilated cardiomyopathy MONDO:0005021; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted; Current diagnostic: yes","entity_name":"NKX2-5","entity_type":"gene"},{"created":"2024-08-30T10:37:27.547239+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Sumudu Perera","item_type":"entity","text":"reviewed gene: DHTKD1: Rating: AMBER; Mode of pathogenicity: None; Publications: 23141293, 37499576, 1112064, 6434826, 4442872, 4430147; Phenotypes: 2-aminoadipic 2-oxoadipic aciduria MIM#204750, Disorders of histidine, tryptophan or lysine metabolism; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DHTKD1","entity_type":"gene"},{"created":"2024-08-29T18:17:36.341391+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1971","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLT3LG were changed from Increased susceptibility to infections to Immunodeficiency 125, MIM# 620926","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-08-29T18:17:12.608101+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1970","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLT3LG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 125, MIM# 620926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-08-29T18:16:53.404712+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.94","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FLT3LG were changed from Increased susceptibility to infections to Immunodeficiency 125, MIM# 620926","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-08-29T18:16:16.891708+10:00","panel_name":"Bone Marrow Failure","panel_id":56,"panel_version":"1.93","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: FLT3LG: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Immunodeficiency 125, MIM# 620926; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"FLT3LG","entity_type":"gene"},{"created":"2024-08-29T16:46:38.039899+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Sumudu Perera","item_type":"entity","text":"edited their review of gene: DCX: Changed rating: GREEN","entity_name":"DCX","entity_type":"gene"},{"created":"2024-08-29T16:45:54.337773+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Sumudu Perera","item_type":"entity","text":"reviewed gene: DARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 17384640, 21815884, 20506600; Phenotypes: Leukoencephalopathy with brain stem and spinal cord involvement and lactate elevation, MIM# 611105; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DARS2","entity_type":"gene"},{"created":"2024-08-29T16:03:02.242400+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Sumudu Perera","item_type":"entity","text":"changed review comment from: Pathology:\r\nPMID: 26743950 - DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females\r\n\r\nPhenotype:\r\nDemelas et al. (2001) (PMID:11468322) demonstrated three brothers with phenotype of microcephaly, mild to moderate developmental delay, seizures and other neurologic abnormalities, as well as classic lissencephaly on MRI. \r\n\r\nLawrence et al. (2010) (PMID: 20726879) discuss 3 male members had severe epilepsy and intellectual disability; finding of missense mutation in DCX. Of note all 3 had been diagnosed with Lennox-Gastaut syndrome. \r\n\r\nGeneReviews (PMID: 20301364): \"Males with classic DCX-related lissencephaly typically have early and profound cognitive and language impairment, cerebral palsy, and epileptic seizures. The clinical phenotype in females with SBH varies widely with cognitive abilities that range from average or mild cognitive impairment to severe intellectual disability and language impairment.\" \r\n\r\nOther papers:\r\n1) Somatic mosaicism and variable penetrance - PMID: 12552055\r\n2) Functional testing: PMID: 9489699; to: Pathology:\r\nPMID: 26743950 - DCX mutations usually cause anterior dominant lissencephaly in males and subcortical band heterotopia (SBH) in females\r\n\r\nPhenotype:\r\nDemelas et al. (2001) (PMID:11468322) demonstrated three brothers with phenotype of microcephaly, mild to moderate developmental delay, seizures and other neurologic abnormalities, as well as classic lissencephaly on MRI. \r\n\r\nLawrence et al. (2010) (PMID: 20726879) discuss 3 male members had severe epilepsy and intellectual disability; finding of missense mutation in DCX. Of note all 3 had been diagnosed with Lennox-Gastaut syndrome. \r\n\r\nGeneReviews (PMID: 20301364): \"Males with classic DCX-related lissencephaly typically have early and profound cognitive and language impairment, cerebral palsy, and epileptic seizures. The clinical phenotype in females with SBH varies widely with cognitive abilities that range from average or mild cognitive impairment to severe intellectual disability and language impairment.\" \r\n\r\nOther papers:\r\n1) Somatic mosaicism and variable penetrance - PMID: 12552055\r\n2) Functional testing: PMID: 9489699","entity_name":"DCX","entity_type":"gene"},{"created":"2024-08-29T15:52:29.139960+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Sumudu Perera","item_type":"entity","text":"reviewed gene: DCX: Rating: ; Mode of pathogenicity: None; Publications: 26743950, 11468322, 20726879, 20301364, 12552055, 9489699; Phenotypes: Lissencephaly, X-linked, MIM# 300067, Subcortical laminal heterotopia, X-linked 300067; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"DCX","entity_type":"gene"},{"created":"2024-08-29T14:13:59.117222+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CIB2 as ready","entity_name":"CIB2","entity_type":"gene"},{"created":"2024-08-29T14:13:59.102118+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Lilian Downie","item_type":"entity","text":"Gene: cib2 has been classified as Red List (Low Evidence).","entity_name":"CIB2","entity_type":"gene"},{"created":"2024-08-29T14:13:54.014156+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.248","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: CIB2 were changed from Usher syndrome, type IJ, 614869 (3) to Deafness, autosomal recessive 48\tMIM#609439","entity_name":"CIB2","entity_type":"gene"},{"created":"2024-08-29T14:12:24.810583+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.247","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CIB2 were set to ","entity_name":"CIB2","entity_type":"gene"},{"created":"2024-08-29T14:11:28.003544+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.246","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CLCF1 as ready","entity_name":"CLCF1","entity_type":"gene"},{"created":"2024-08-29T14:11:27.979208+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.246","user_name":"Lilian Downie","item_type":"entity","text":"Gene: clcf1 has been classified as Green List (High Evidence).","entity_name":"CLCF1","entity_type":"gene"},{"created":"2024-08-29T14:11:19.046502+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.246","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CLCF1 were set to ","entity_name":"CLCF1","entity_type":"gene"},{"created":"2024-08-29T14:10:33.826950+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.245","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CLCN7 as ready","entity_name":"CLCN7","entity_type":"gene"},{"created":"2024-08-29T14:10:33.806309+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.245","user_name":"Lilian Downie","item_type":"entity","text":"Gene: clcn7 has been classified as Green List (High Evidence).","entity_name":"CLCN7","entity_type":"gene"},{"created":"2024-08-29T14:10:28.727685+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.245","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CLCN7 were set to ","entity_name":"CLCN7","entity_type":"gene"},{"created":"2024-08-29T14:09:37.586422+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.244","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CCDC114 as ready","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-08-29T14:09:37.557053+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.244","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ccdc114 has been classified as Green List (High Evidence).","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-08-29T14:09:31.691126+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.244","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CCDC114 were set to ","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-08-29T14:06:30.863209+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.243","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CCDC8 as ready","entity_name":"CCDC8","entity_type":"gene"},{"created":"2024-08-29T14:06:30.858046+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.243","user_name":"Lilian Downie","item_type":"entity","text":"Added comment: Comment when marking as ready: Primordial dwarfism with normal intelligence, final adult height approx -5SD from the mean, subtle facial dysmorphism","entity_name":"CCDC8","entity_type":"gene"},{"created":"2024-08-29T14:06:30.820896+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.243","user_name":"Lilian Downie","item_type":"entity","text":"Gene: ccdc8 has been classified as Green List (High Evidence).","entity_name":"CCDC8","entity_type":"gene"},{"created":"2024-08-29T14:06:24.655692+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.243","user_name":"Lilian Downie","item_type":"entity","text":"Tag for review tag was added to gene: CCDC8.","entity_name":"CCDC8","entity_type":"gene"},{"created":"2024-08-29T14:05:39.254461+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.243","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CCDC8 were set to ","entity_name":"CCDC8","entity_type":"gene"},{"created":"2024-08-29T13:52:20.617338+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.242","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CHRNG as ready","entity_name":"CHRNG","entity_type":"gene"},{"created":"2024-08-29T13:52:20.579745+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.242","user_name":"Lilian Downie","item_type":"entity","text":"Gene: chrng has been classified as Green List (High Evidence).","entity_name":"CHRNG","entity_type":"gene"},{"created":"2024-08-29T13:52:17.475231+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.242","user_name":"Lilian Downie","item_type":"entity","text":"Phenotypes for gene: CHRNG were changed from Escobar syndrome, 265000 (3) to Escobar syndrome (MIM# 265000); Multiple pterygium syndrome, lethal type, (MIM# 253290)","entity_name":"CHRNG","entity_type":"gene"},{"created":"2024-08-29T13:51:01.095279+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.241","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CHRNG were set to ","entity_name":"CHRNG","entity_type":"gene"},{"created":"2024-08-29T13:49:01.553607+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.240","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: COQ6 as ready","entity_name":"COQ6","entity_type":"gene"},{"created":"2024-08-29T13:49:01.523162+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.240","user_name":"Lilian Downie","item_type":"entity","text":"Gene: coq6 has been classified as Green List (High Evidence).","entity_name":"COQ6","entity_type":"gene"},{"created":"2024-08-29T13:48:43.126187+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.240","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: COQ6 were set to ","entity_name":"COQ6","entity_type":"gene"},{"created":"2024-08-29T13:12:43.063394+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.239","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: COQ8A as ready","entity_name":"COQ8A","entity_type":"gene"},{"created":"2024-08-29T13:12:43.018665+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.239","user_name":"Lilian Downie","item_type":"entity","text":"Gene: coq8a has been classified as Green List (High Evidence).","entity_name":"COQ8A","entity_type":"gene"},{"created":"2024-08-29T13:12:38.191699+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.239","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: COQ8A were set to ","entity_name":"COQ8A","entity_type":"gene"},{"created":"2024-08-29T13:11:19.152730+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.238","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: COQ2 as ready","entity_name":"COQ2","entity_type":"gene"},{"created":"2024-08-29T13:11:19.137038+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.238","user_name":"Lilian Downie","item_type":"entity","text":"Gene: coq2 has been classified as Green List (High Evidence).","entity_name":"COQ2","entity_type":"gene"},{"created":"2024-08-29T13:11:15.528369+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.238","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: COQ2 were set to ","entity_name":"COQ2","entity_type":"gene"},{"created":"2024-08-29T13:08:59.805229+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.237","user_name":"Lilian Downie","item_type":"entity","text":"Marked gene: CRTAP as ready","entity_name":"CRTAP","entity_type":"gene"},{"created":"2024-08-29T13:08:59.790613+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.237","user_name":"Lilian Downie","item_type":"entity","text":"Gene: crtap has been classified as Green List (High Evidence).","entity_name":"CRTAP","entity_type":"gene"},{"created":"2024-08-29T13:07:22.969409+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.237","user_name":"Lilian Downie","item_type":"entity","text":"Publications for gene: CRTAP were set to ","entity_name":"CRTAP","entity_type":"gene"},{"created":"2024-08-29T12:18:44.453335+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Sumudu Perera","item_type":"entity","text":"reviewed gene: D2HGDH: Rating: GREEN; Mode of pathogenicity: None; Publications: 15609246, 16081310, 31349060, 20020533, 38825343; Phenotypes: D-2-hydroxyglutaric aciduria MIM#600721; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"D2HGDH","entity_type":"gene"},{"created":"2024-08-28T17:22:24.411544+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: CRTAP: Rating: GREEN; Mode of pathogenicity: None; Publications: 21955071, 19846465, 17192541; Phenotypes: Osteogenesis imperfecta, type VII MIM#610682; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CRTAP","entity_type":"gene"},{"created":"2024-08-28T17:10:57.306399+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17855635, 17332895; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ2","entity_type":"gene"},{"created":"2024-08-28T17:09:51.124530+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: COQ8A: Rating: GREEN; Mode of pathogenicity: None; Publications: 32337771; Phenotypes: Coenzyme Q10 deficiency, primary, 4 MIM#612016; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"COQ8A","entity_type":"gene"},{"created":"2024-08-28T17:01:25.647532+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Cassandra Muller","item_type":"entity","text":"Deleted their review","entity_name":"COQ2","entity_type":"gene"},{"created":"2024-08-28T17:00:32.743676+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: COQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: 16400613, 17332895, 17855635; Phenotypes: Coenzyme Q10 deficiency, primary, 1, 607426 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"COQ2","entity_type":"gene"},{"created":"2024-08-28T16:55:21.379055+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: COQ6: Rating: GREEN; Mode of pathogenicity: None; Publications: 28125198; Phenotypes: Coenzyme Q10 deficiency, primary, 6 MIM#614650; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"COQ6","entity_type":"gene"},{"created":"2024-08-28T16:46:24.630343+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: CHRNG: Rating: GREEN; Mode of pathogenicity: None; Publications: 16826520, 16826531, 22167768; Phenotypes: Escobar syndrome (MIM# 265000), Multiple pterygium syndrome, lethal type, (MIM# 253290); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CHRNG","entity_type":"gene"},{"created":"2024-08-28T16:38:11.046112+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: CCDC8: Rating: GREEN; Mode of pathogenicity: None; Publications: 21737058; Phenotypes: 3-M syndrome 3, MIM#614205; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CCDC8","entity_type":"gene"},{"created":"2024-08-28T16:24:16.473840+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Ee Ming Wong","item_type":"entity","text":"reviewed gene: CCDC114: Rating: GREEN; Mode of pathogenicity: None; Publications: 23261303, 23261302, 32855706, 23506398; Phenotypes: Ciliary dyskinesia, primary, 20, MIM# 615067; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"CCDC114","entity_type":"gene"},{"created":"2024-08-28T13:51:23.345526+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: CLCN7: Rating: GREEN; Mode of pathogenicity: None; Publications: 19507210, 11207362, 11741829, 14584882, 19953639; Phenotypes: Osteopetrosis, autosomal recessive 4, 611490 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLCN7","entity_type":"gene"},{"created":"2024-08-28T10:14:03.102647+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Cassandra Muller","item_type":"entity","text":"changed review comment from: Severe early in life, can result in death. Features typically improve after 2 years.; to: Severe early in life and can result in early death.","entity_name":"CLCF1","entity_type":"gene"},{"created":"2024-08-27T17:34:02.222408+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"Deleted their comment","entity_name":"CACNA1B","entity_type":"gene"},{"created":"2024-08-27T17:33:54.719422+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"edited their review of gene: CACNA1B: Added comment: 1 individual reported with biallelic variants (1 missense, 1 splice variant but functional assessment not performed) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied.\r\n\r\nAdditional case study reporting compound heterozygous frameshift variants in a child with epilepsy and cerebral palsy (PMID: 39005920).\r\nSources: Literature; Changed publications: PMID: 38693247, PMID: 39005920","entity_name":"CACNA1B","entity_type":"gene"},{"created":"2024-08-27T17:33:21.314858+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.367","user_name":"Clare van Eyk","item_type":"entity","text":"changed review comment from: 1 individual reported with biallelic variants (1 missense, 1 splice) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \nSources: Literature; to: 1 individual reported with biallelic variants (1 missense, 1 splice variant but functional assessment not performed) in large-scale CP exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. \r\n\r\nAdditional case study reporting compound heterozygous frameshift variants in a child with epilepsy and cerebral palsy (PMID: 39005920).  \r\nSources: Literature","entity_name":"CACNA1B","entity_type":"gene"},{"created":"2024-08-27T17:12:16.014578+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: CLCF1: Rating: GREEN; Mode of pathogenicity: None; Publications: 16782820, 21370513, 20400119; Phenotypes: Cold-induced sweating syndrome 2, 610313 (3); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CLCF1","entity_type":"gene"},{"created":"2024-08-27T16:20:55.787105+10:00","panel_name":"Prepair 1000+","panel_id":3861,"panel_version":"1.236","user_name":"Cassandra Muller","item_type":"entity","text":"reviewed gene: CIB2: Rating: RED; Mode of pathogenicity: None; Publications: 29112224; Phenotypes: Usher syndrome, type IJ 614869; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CIB2","entity_type":"gene"},{"created":"2024-08-27T10:15:44.413016+10:00","panel_name":"Osteogenesis Imperfecta and Osteoporosis","panel_id":147,"panel_version":"0.115","user_name":"Bryony Thompson","item_type":"entity","text":"Mode of inheritance for gene: WNT1 was changed from BIALLELIC, autosomal or pseudoautosomal to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"WNT1","entity_type":"gene"},{"created":"2024-08-26T14:20:36.937960+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.265","user_name":"Tashunka Taylor-Miller","item_type":"entity","text":"reviewed gene: LAMA5: Rating: AMBER; Mode of pathogenicity: None; Publications: PMID: 36322204; Phenotypes: cleft lip, cleft palate; Mode of inheritance: Unknown","entity_name":"LAMA5","entity_type":"gene"},{"created":"2024-08-25T17:26:51.696103+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTPBP1 were changed from Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888","entity_name":"GTPBP1","entity_type":"gene"},{"created":"2024-08-25T17:26:14.837187+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.6122","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP1","entity_type":"gene"},{"created":"2024-08-25T17:25:55.235520+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.272","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTPBP1 were changed from Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888","entity_name":"GTPBP1","entity_type":"gene"},{"created":"2024-08-25T17:25:21.759870+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.271","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP1","entity_type":"gene"},{"created":"2024-08-25T17:24:58.007087+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1970","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GTPBP1 were changed from Neurodevelopmental disorder (MONDO#0700092), GTPBP1-related to Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888","entity_name":"GTPBP1","entity_type":"gene"},{"created":"2024-08-25T17:24:30.213891+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1969","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GTPBP1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Neurodevelopmental disorder with characteristic facial and ectodermal features and tetraparesis 1, MIM# 620888; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"GTPBP1","entity_type":"gene"},{"created":"2024-08-23T22:41:16.773487+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.265","user_name":"Achchuthan Shanmugasundram","item_type":"entity","text":"reviewed gene: NME8: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"NME8","entity_type":"gene"},{"created":"2024-08-23T13:34:05.252226+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1969","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP1 were changed from  to Developmental dysplasia of the hip 3, MIM# 620690; Keratosis pilaris atrophicans MIM#604093","entity_name":"LRP1","entity_type":"gene"},{"created":"2024-08-23T13:33:40.129575+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1968","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP1 were set to ","entity_name":"LRP1","entity_type":"gene"},{"created":"2024-08-23T13:32:55.349206+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1967","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LRP1","entity_type":"gene"},{"created":"2024-08-23T13:31:51.045626+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LRP1 as Amber List (moderate evidence)","entity_name":"LRP1","entity_type":"gene"},{"created":"2024-08-23T13:31:51.030535+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1966","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp1 has been classified as Amber List (Moderate Evidence).","entity_name":"LRP1","entity_type":"gene"},{"created":"2024-08-23T13:31:31.452405+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1965","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: LRP1: Rating: AMBER; Mode of pathogenicity: None; Publications: 36067312; Phenotypes: Developmental dysplasia of the hip 3, MIM# 620690; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"LRP1","entity_type":"gene"},{"created":"2024-08-23T11:55:13.581720+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1965","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB32 were changed from Parkinson disease MONDO:0005180 to {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:54:45.656255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1964","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB32 were set to 38614108","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:54:23.626663+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB32 as Amber List (moderate evidence)","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:54:23.611229+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1963","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rab32 has been classified as Amber List (Moderate Evidence).","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:54:04.379088+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.1962","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: RAB32: Rating: AMBER; Mode of pathogenicity: None; Publications: 38858457; Phenotypes: {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:53:03.754559+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.7","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RAB32 were changed from Parkinson disease MONDO:0005180 to {Parkinson disease 26, autosomal dominant, susceptibility to}, MIM# 620923","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:52:17.627510+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.6","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB32 were set to 38614108; 38858457","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:51:42.763954+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.5","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RAB32 were set to 38614108","entity_name":"RAB32","entity_type":"gene"},{"created":"2024-08-23T11:50:50.689498+10:00","panel_name":"Early-onset Parkinson disease","panel_id":26,"panel_version":"2.4","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: RAB32 as Amber List (moderate evidence)","entity_name":"RAB32","entity_type":"gene"}]}