{"count":220751,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1586","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1584","results":[{"created":"2020-09-16T17:59:54.614875+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL9A1 was added\ngene: COL9A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen,Victorian Clinical Genetics Services\nMode of inheritance for gene: COL9A1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: COL9A1 were set to 16909383; 21421862\nPhenotypes for gene: COL9A1 were set to Autosomal recessive Stickler syndrome; Stickler syndrome, type IV (ophthalmological: myopia, retinal detachment and cataracts, orofacial: micrognathia, midface hypoplasia and cleft palate, auditory:sensorineural hearing loss and articular: epiphyseal dysplasia) symptoms; Orofacial Clefting with skeletal features; Cleft palate","entity_name":"COL9A1","entity_type":"gene"},{"created":"2020-09-16T17:59:54.431180+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL2A1 was added\ngene: COL2A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing\nMode of inheritance for gene: COL2A1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: COL2A1 were set to 16752401; 17721977; 1677770\nPhenotypes for gene: COL2A1 were set to STL1; Stickler syndrome (cleft palate,micrognathia,vireo-retinal anomalies, severe myopia, joint problems, hearing loss); Stickler sydrome, type I, non syndromic ocular; Cleft palate; STICKLER SYNDROME, MEMBRANOUS VITREOUS TYPE; ARTHROOPHTHALMOPATHY, HEREDITARY PROGRESSIVE, AOM; STICKLER SYNDROME, TYPE I; Orofacial Clefting with skeletal features; Stickler Syndrome; STICKLER SYNDROME, TYPE I (STL1), 108300; STICKLER SYNDROME, VITREOUS TYPE 1","entity_name":"COL2A1","entity_type":"gene"},{"created":"2020-09-16T17:59:54.309275+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A2 was added\ngene: COL11A2 was added to Clefting_GEL. Sources: UKGTN,Radboud University Medical Center, Nijmegen,Eligibility statement prior genetic testing,Victorian Clinical Genetics Services,Expert Review Green\nMode of inheritance for gene: COL11A2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A2 were set to Cleft palate; OSMED; STL3; Stickler syndrome, type III; Non-ocular Stickler syndrome; STICKLER SYNDROME, NONOCULAR TYPE","entity_name":"COL11A2","entity_type":"gene"},{"created":"2020-09-16T17:59:54.127286+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: COL11A1 was added\ngene: COL11A1 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Victorian Clinical Genetics Services,Eligibility statement prior genetic testing\nMode of inheritance for gene: COL11A1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: COL11A1 were set to Orofacial Clefting with skeletal features; Stickler Syndrome; Cleft palate","entity_name":"COL11A1","entity_type":"gene"},{"created":"2020-09-16T17:59:54.005992+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHST14 was added\ngene: CHST14 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: CHST14 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: CHST14 were set to EHLERS-DANLOS SYNDROME, MUSCULOCONTRACTURAL TYPE, 1; EDSMC1","entity_name":"CHST14","entity_type":"gene"},{"created":"2020-09-16T17:59:53.839916+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHRNG was added\ngene: CHRNG was added to Clefting_GEL. Sources: Expert list,UKGTN,Illumina TruGenome Clinical Sequencing Services,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: CHRNG was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CHRNG were set to 16826520; 22167768; 27843868\nPhenotypes for gene: CHRNG were set to PTERYGIUM SYNDROME, MULTIPLE, LETHAL TYPE; MULTIPLE PTERYGIUM SYNDROME, NONLETHAL TYPE; Multiple pterygium syndrome, lethal type, 253290; Escobar syndrome, 265000","entity_name":"CHRNG","entity_type":"gene"},{"created":"2020-09-16T17:59:53.716684+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CHD7 was added\ngene: CHD7 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: CHD7 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: CHD7 were set to CHARGE SYNDROME","entity_name":"CHD7","entity_type":"gene"},{"created":"2020-09-16T17:59:53.610960+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDKN1C was added\ngene: CDKN1C was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: CDKN1C was set to MONOALLELIC, autosomal or pseudoautosomal, paternally imprinted (maternal allele expressed)\nPublications for gene: CDKN1C were set to 20503313\nPhenotypes for gene: CDKN1C were set to BECKWITH-WIEDEMANN SYNDROME; BWS","entity_name":"CDKN1C","entity_type":"gene"},{"created":"2020-09-16T17:59:53.452089+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDH1 was added\ngene: CDH1 was added to Clefting_GEL. Sources: Expert Review Green,Other\nMode of inheritance for gene: CDH1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CDH1 were set to 27566442; 28301459\nPhenotypes for gene: CDH1 were set to Blepharocheilodontic syndrome 1; BLEPHAROCHEILODONTIC","entity_name":"CDH1","entity_type":"gene"},{"created":"2020-09-16T17:59:53.334169+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CC2D2A was added\ngene: CC2D2A was added to Clefting_GEL. Sources: Expert list,Expert Review Green\nMode of inheritance for gene: CC2D2A was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: CC2D2A were set to 18513680; 19777577\nPhenotypes for gene: CC2D2A were set to MKS6; Meckel-Gruber syndrome; Meckel syndrome 6, 612284","entity_name":"CC2D2A","entity_type":"gene"},{"created":"2020-09-16T17:59:53.232090+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C5orf42 was added\ngene: C5orf42 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: C5orf42 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C5orf42 were set to OFD6; OROFACIODIGITAL SYNDROME VI","entity_name":"C5orf42","entity_type":"gene"},{"created":"2020-09-16T17:59:53.121527+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: C2CD3 was added\ngene: C2CD3 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: C2CD3 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: C2CD3 were set to OFD14; OROFACIODIGITAL SYNDROME XIV","entity_name":"C2CD3","entity_type":"gene"},{"created":"2020-09-16T17:59:53.012387+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BMP2 was added\ngene: BMP2 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: BMP2 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: BMP2 were set to 29198724; 21671386\nPhenotypes for gene: BMP2 were set to Short stature, facial dysmorphism, and skeletal anomalies with or without cardiac anomalies, 617877; Cleft palate","entity_name":"BMP2","entity_type":"gene"},{"created":"2020-09-16T17:59:52.841539+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BCOR was added\ngene: BCOR was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: BCOR was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: BCOR were set to MCOPS2; MICROPHTHALMIA, SYNDROMIC 2","entity_name":"BCOR","entity_type":"gene"},{"created":"2020-09-16T17:59:52.737547+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: B3GLCT was added\ngene: B3GLCT was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: B3GLCT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: B3GLCT were set to PETERS-PLUS SYNDROME","entity_name":"B3GLCT","entity_type":"gene"},{"created":"2020-09-16T17:59:52.634670+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ASXL1 was added\ngene: ASXL1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ASXL1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ASXL1 were set to BOPS; BOHRING-OPITZ SYNDROME","entity_name":"ASXL1","entity_type":"gene"},{"created":"2020-09-16T17:59:52.529861+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP31 was added\ngene: ARHGAP31 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ARHGAP31 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPhenotypes for gene: ARHGAP31 were set to AOS1; ADAMS-OLIVER SYNDROME 1","entity_name":"ARHGAP31","entity_type":"gene"},{"created":"2020-09-16T17:59:52.427065+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARHGAP29 was added\ngene: ARHGAP29 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services,Research\nMode of inheritance for gene: ARHGAP29 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARHGAP29 were set to 23008150; 27369588; 25704602; 27350171; 25512736; 27033726; 28029220\nPhenotypes for gene: ARHGAP29 were set to cleft lip with or without cleft palate; Cleft palate","entity_name":"ARHGAP29","entity_type":"gene"},{"created":"2020-09-16T17:59:52.305759+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ANKRD11 was added\ngene: ANKRD11 was added to Clefting_GEL. Sources: Expert Review Green,UKGTN,Radboud University Medical Center, Nijmegen\nMode of inheritance for gene: ANKRD11 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ANKRD11 were set to 25838844; 2705097; 21782149; 27900361\nPhenotypes for gene: ANKRD11 were set to Short stature-facial and skeletal anomalies-intellectual disability-macrodontia syndrome; Orofacial Clefting with skeletal features; KBG syndrome,148050 (orofacial clefting, intellectual disability, dental anomalies, dysmorphism)","entity_name":"ANKRD11","entity_type":"gene"},{"created":"2020-09-16T17:59:52.131530+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AMER1 was added\ngene: AMER1 was added to Clefting_GEL. Sources: Expert Review Green,Victorian Clinical Genetics Services\nMode of inheritance for gene: AMER1 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPhenotypes for gene: AMER1 were set to OSTEOPATHIA STRIATA WITH CRANIAL SCLEROSIS; OSCS; Cleft palate","entity_name":"AMER1","entity_type":"gene"},{"created":"2020-09-16T17:59:52.021108+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTG1 was added\ngene: ACTG1 was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ACTG1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTG1 were set to 22366783\nPhenotypes for gene: ACTG1 were set to BARAITSER-WINTER SYNDROME 2; BRWS2","entity_name":"ACTG1","entity_type":"gene"},{"created":"2020-09-16T17:59:51.921216+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ACTB was added\ngene: ACTB was added to Clefting_GEL. Sources: Expert Review Green\nMode of inheritance for gene: ACTB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: ACTB were set to 22366783\nPhenotypes for gene: ACTB were set to BRWS1; BARAITSER-WINTER SYNDROME 1","entity_name":"ACTB","entity_type":"gene"},{"created":"2020-09-16T17:59:51.854598+10:00","panel_name":"Clefting_GEL","panel_id":3368,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel Clefting_GEL","entity_name":null,"entity_type":null},{"created":"2020-09-16T17:07:47.773665+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.3007","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS11.","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:07:27.407905+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.860","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS11.","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:06:58.386258+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4473","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS11 as ready","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:06:58.377163+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4473","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps11 has been classified as Green List (High Evidence).","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:06:50.949149+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4473","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VPS11 were changed from  to Leukodystrophy, hypomyelinating, 12, MIM# 616683","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:06:28.843731+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4472","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS11 were set to ","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:06:09.486202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4471","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VPS11 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:05:47.538405+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS11.","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:05:35.854691+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:04:11.779575+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VPS11 as ready","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:04:11.769500+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vps11 has been classified as Green List (High Evidence).","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:04:07.018439+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Tag founder tag was added to gene: VPS11.","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:03:59.592530+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: VPS11 were set to ","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T17:03:47.064149+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VPS11: Rating: GREEN; Mode of pathogenicity: None; Publications: 27120463, 26307567, 27473128; Phenotypes: Leukodystrophy, hypomyelinating, 12, MIM# 616683; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"VPS11","entity_type":"gene"},{"created":"2020-09-16T16:56:32.119937+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: WARS2 as ready","entity_name":"WARS2","entity_type":"gene"},{"created":"2020-09-16T16:56:32.109524+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: wars2 has been classified as Green List (High Evidence).","entity_name":"WARS2","entity_type":"gene"},{"created":"2020-09-16T16:56:25.829462+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: WARS2 were set to ","entity_name":"WARS2","entity_type":"gene"},{"created":"2020-09-16T16:56:12.609953+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: WARS2: Rating: GREEN; Mode of pathogenicity: None; Publications: 31282308, 28650581, 30920170; Phenotypes: Neurodevelopmental disorder, mitochondrial, with abnormal movements and lactic acidosis, with or without seizures, MIM# 617710; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"WARS2","entity_type":"gene"},{"created":"2020-09-16T15:44:33.283170+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ZFYVE26 were set to ","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-09-16T15:44:21.920734+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: ZFYVE26: Changed publications: 19084844","entity_name":"ZFYVE26","entity_type":"gene"},{"created":"2020-09-16T15:33:28.060326+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TWNK as ready","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-09-16T15:33:28.051359+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: twnk has been classified as Amber List (Moderate Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-09-16T15:33:22.992606+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TWNK as Amber List (moderate evidence)","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-09-16T15:33:22.979918+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: twnk has been classified as Amber List (Moderate Evidence).","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-09-16T15:33:11.952312+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"gene: TWNK was added\ngene: TWNK was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: TWNK was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPublications for gene: TWNK were set to 31455269; 19353676\nPhenotypes for gene: TWNK were set to Mitochondrial DNA depletion syndrome 7 (hepatocerebral type), MIM# 271245\nReview for gene: TWNK was set to AMBER\nAdded comment: Two reports of white matter changes: one in a woman diagnosed with PEO and mono-allelic variant and an infant diagnosed with mitochondrial depletion syndrome and bi-allelic variants. \nSources: Expert list","entity_name":"TWNK","entity_type":"gene"},{"created":"2020-09-16T15:28:34.053733+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: TUFM as ready","entity_name":"TUFM","entity_type":"gene"},{"created":"2020-09-16T15:28:34.043234+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tufm has been classified as Green List (High Evidence).","entity_name":"TUFM","entity_type":"gene"},{"created":"2020-09-16T15:28:31.701862+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TUFM were changed from Mitochondrial Leukoencephalopathy to Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mitochondrial Leukoencephalopathy","entity_name":"TUFM","entity_type":"gene"},{"created":"2020-09-16T15:28:20.980065+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TUFM were set to ","entity_name":"TUFM","entity_type":"gene"},{"created":"2020-09-16T15:28:08.556980+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: TUFM: Rating: GREEN; Mode of pathogenicity: None; Publications: 28132884, 26741492, 17160893; Phenotypes: Combined oxidative phosphorylation deficiency 4, MIM# 610678; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"TUFM","entity_type":"gene"},{"created":"2020-09-16T15:07:28.110608+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Deleted their comment","entity_name":"TMEM106B","entity_type":"gene"},{"created":"2020-09-16T14:26:54.677605+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: SDHA: Rating: GREEN; Mode of pathogenicity: None; Publications: 22972948; Phenotypes: Mitochondrial respiratory chain complex II deficiency, MIM#252011; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SDHA","entity_type":"gene"},{"created":"2020-09-16T14:02:48.404564+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PC as ready","entity_name":"PC","entity_type":"gene"},{"created":"2020-09-16T14:02:48.394140+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pc has been classified as Green List (High Evidence).","entity_name":"PC","entity_type":"gene"},{"created":"2020-09-16T14:02:38.981225+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PC: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Pyruvate carboxylase deficiency, MIM# 266150; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PC","entity_type":"gene"},{"created":"2020-09-16T13:53:48.274380+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PAFAH1B1 as ready","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-09-16T13:53:48.264135+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-09-16T13:53:44.311144+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PAFAH1B1 as Green List (high evidence)","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-09-16T13:53:44.303053+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pafah1b1 has been classified as Green List (High Evidence).","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-09-16T13:53:33.287357+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"gene: PAFAH1B1 was added\ngene: PAFAH1B1 was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: PAFAH1B1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: PAFAH1B1 were set to 31370080; 30568308; 20301752\nPhenotypes for gene: PAFAH1B1 were set to Lissencephaly 1, MIM#\t607432; Subcortical laminar heterotopia, MIM#\t607432; MONDO:0011830\nReview for gene: PAFAH1B1 was set to GREEN\nAdded comment: White matter abnormalities are part of the phenotype. \nSources: Expert list","entity_name":"PAFAH1B1","entity_type":"gene"},{"created":"2020-09-16T11:17:21.397610+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GGT1 as ready","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T11:17:21.385704+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ggt1 has been classified as Red List (Low Evidence).","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T11:17:14.810056+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4470","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GGT1 were changed from  to ?Glutathioninuria 231950","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T11:16:56.994876+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4469","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GGT1 were set to ","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T11:16:39.408926+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4468","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GGT1 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T11:16:03.681834+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4467","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GGT1 as Red List (low evidence)","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T11:16:03.673105+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4467","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ggt1 has been classified as Red List (Low Evidence).","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T10:46:00.889639+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4466","user_name":"Elena Savva","item_type":"entity","text":"edited their review of gene: GGT1: Added comment: PMID: 29483667 - 1 family (2 sibs) w/ a homozygous 16.9kb deletion spanning part of the gene and no others. Carrier parents were normal.\r\n\r\nPMID: 23615310 - homozygous mutant mouse model have dwarfism, cataracts and coat colour abnormalities. Protein activity reduced to 4% of wildtype. Noted it was for use as a GGT deficiency model.\r\n\r\nPMID: 31520399 - 2 families with AD inheritance showing GGT1 deficiency but NO clinical symptoms. Authors call GGTemia a benign condition.; Changed publications: PMID: 29483667, 23615310, 31520399","entity_name":"GGT1","entity_type":"gene"},{"created":"2020-09-16T08:59:21.593647+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NFU1 as ready","entity_name":"NFU1","entity_type":"gene"},{"created":"2020-09-16T08:59:21.582715+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: nfu1 has been classified as Green List (High Evidence).","entity_name":"NFU1","entity_type":"gene"},{"created":"2020-09-16T08:59:18.655556+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NFU1 were set to 29441221","entity_name":"NFU1","entity_type":"gene"},{"created":"2020-09-16T08:59:02.539497+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NFU1: Rating: GREEN; Mode of pathogenicity: None; Publications: 21944046, 22077971, 32747156, 29441221; Phenotypes: Multiple mitochondrial dysfunctions syndrome 1, MIM# 605711; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NFU1","entity_type":"gene"},{"created":"2020-09-16T08:53:19.651910+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4466","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAXE as ready","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:53:19.642972+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4466","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naxe has been classified as Green List (High Evidence).","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:53:10.138226+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4466","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAXE were changed from  to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:52:54.290221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4465","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAXE were set to ","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:52:37.016025+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4464","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:52:20.617459+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4463","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.; to: Early-onset progressive encephalopathy with brain oedema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:52:11.075847+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4463","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:46:48.061532+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAXE as ready","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:46:48.053555+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naxe has been classified as Green List (High Evidence).","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:46:45.871469+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.496","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAXE were changed from  to Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:46:16.991866+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.495","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAXE were set to ","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:43:47.461987+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.494","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAXE was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:43:23.240983+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"commented on gene: NAXE: Early-onset progressive encephalopathy with brain edema and/or leukoencephalopathy-1 (PEBEL1) is an autosomal recessive severe neurometabolic disorder characterized by rapidly progressive neurologic deterioration that is usually associated with a febrile illness. Affected infants tend to show normal early development followed by acute psychomotor regression with ataxia, hypotonia, respiratory insufficiency, and seizures, resulting in coma and death in the first years of life. Brain imaging shows multiple abnormalities, including brain edema and signal abnormalities in the cortical and subcortical regions. More than 5 unrelated families reported.","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:43:18.451665+10:00","panel_name":"Mitochondrial disease","panel_id":203,"panel_version":"0.493","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:42:34.078372+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAXE as ready","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:42:34.068330+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naxe has been classified as Green List (High Evidence).","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:42:31.368018+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAXE were set to ","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:42:20.117594+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAXE: Rating: GREEN; Mode of pathogenicity: None; Publications: 27122014, 27616477, 31758406; Phenotypes: Encephalopathy, progressive, early-onset, with brain oedema and/or leukoencephalopathy, MIM# 617186; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXE","entity_type":"gene"},{"created":"2020-09-16T08:36:29.443099+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4463","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAXD as ready","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:36:29.434790+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4463","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naxd has been classified as Green List (High Evidence).","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:36:23.151912+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4463","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAXD were changed from  to Encephalopathy, progressive, early-onset, with brain edema and/or leukoencephalopathy, 2 MIM#618321","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:36:05.636409+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4462","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAXD were set to ","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:35:36.643912+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.4461","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAXD was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:35:18.404219+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAXD were set to 32462209","entity_name":"NAXD","entity_type":"gene"},{"created":"2020-09-16T08:35:06.359048+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NAXD: Changed publications: 30576410, 31755961, 32462209","entity_name":"NAXD","entity_type":"gene"}]}