{"count":220363,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=824","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=822","results":[{"created":"2022-06-01T16:46:00.424743+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AAAS was added\ngene: AAAS was added to Reproductive Carrier Screen_VCGS. Sources: Mackenzie's Mission,Expert Review Green\nMode of inheritance for gene: AAAS was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: AAAS were set to Achalasia-addisonianism-alacrimia syndrome, 231550 (3)","entity_name":"AAAS","entity_type":"gene"},{"created":"2022-06-01T16:46:00.307121+10:00","panel_name":"Reproductive Carrier Screen_VCGS","panel_id":3861,"panel_version":"0.0","user_name":"Zornitza Stark","item_type":"panel","text":"Added panel Reproductive Carrier Screen_VCGS","entity_name":null,"entity_type":null},{"created":"2022-05-31T13:48:08.730670+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.31","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MESP1 were changed from Congenital heart disease to Congenital heart disease MONDO:0005453","entity_name":"MESP1","entity_type":"gene"},{"created":"2022-05-31T13:20:43.069065+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNM2 was changed from MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"DNM2","entity_type":"gene"},{"created":"2022-05-30T17:54:39.466434+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5; OMIM #613477 to Developmental and epileptic encephalopathy 5; OMIM #613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-30T17:53:35.391178+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTAN1 were changed from Developmental and epileptic encephalopathy 5, MIM# 613477; hereditary motor neuropathy to Developmental and epileptic encephalopathy 5, MIM# 613477; Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; hereditary motor neuropathy","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-30T17:52:54.443678+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: SPTAN1: Added comment: Leveille et al (2019) - 2 patients with HSP with biallelic missense SPTAN1 variants Previously described zebrafish, mouse, and rat animal models of SPTAN1 deficiency, all consistently showing axonal degeneration, fitting the pathological features of HSP in humans. Xie et al (2022) - 1 patient with complicated HSP and homozygous SPTAN1 mutation. Healthy parents and sister all carried the heterozygous mutation. Van de Vondel et al (2022) - 22 patients from 14 families with five novel heterozygous SPTAN1 variants. Presentations ranged from cerebellar ataxia, intellectual disability, epilepsy, and spastic paraplegia. A recurrent missense mutation (p.Arg19Trp) in 15 patients with spastic paraplegia. Through protein modeling they showed that mutated amino acids are located at crucial interlinking positions, interconnecting the three-helix bundle of a spectrin repeat.; Changed publications: 20493457, 22258530, 32811770, 35150594, 34526651, 31515523; Changed phenotypes: Developmental and epileptic encephalopathy 5, MIM# 613477, Hereditary spastic paraplegia MONDO:0019064, SPTAN1-related; Changed mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-30T17:44:44.892754+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: SPTAN1 as ready","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-30T17:44:44.880044+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sptan1 has been classified as Green List (High Evidence).","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-30T17:43:42.747852+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.30","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: SPTAN1 were set to PMID: 35150594, 34526651, 31515523","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-30T17:43:30.185892+10:00","panel_name":"Hereditary Spastic Paraplegia - paediatric","panel_id":317,"panel_version":"1.29","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: SPTAN1 were changed from Spastic Paraplegia to Spastic Paraplegia MONDO:0019064, SPTAN1-related","entity_name":"SPTAN1","entity_type":"gene"},{"created":"2022-05-30T17:41:43.763850+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ZDHHC9 as ready","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-05-30T17:41:43.746887+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zdhhc9 has been classified as Green List (High Evidence).","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-05-30T17:41:41.051397+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ZDHHC9 were changed from  to Intellectual developmental disorder, X-linked, syndromic, Raymond type, MIM#\t300799","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-05-30T17:40:48.309500+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ZDHHC9 as Green List (high evidence)","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-05-30T17:40:48.296521+10:00","panel_name":"Macrocephaly_Megalencephaly","panel_id":135,"panel_version":"0.112","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: zdhhc9 has been classified as Green List (High Evidence).","entity_name":"ZDHHC9","entity_type":"gene"},{"created":"2022-05-30T17:37:58.854666+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL3A1 as ready","entity_name":"COL3A1","entity_type":"gene"},{"created":"2022-05-30T17:37:58.842091+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col3a1 has been classified as Green List (High Evidence).","entity_name":"COL3A1","entity_type":"gene"},{"created":"2022-05-30T17:37:54.353744+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: COL3A1 as Green List (high evidence)","entity_name":"COL3A1","entity_type":"gene"},{"created":"2022-05-30T17:37:54.341817+10:00","panel_name":"Polymicrogyria and Schizencephaly","panel_id":18,"panel_version":"0.176","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col3a1 has been classified as Green List (High Evidence).","entity_name":"COL3A1","entity_type":"gene"},{"created":"2022-05-30T17:36:03.443182+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ETV2 as ready","entity_name":"ETV2","entity_type":"gene"},{"created":"2022-05-30T17:36:03.430962+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: etv2 has been classified as Red List (Low Evidence).","entity_name":"ETV2","entity_type":"gene"},{"created":"2022-05-30T17:35:55.026331+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.38","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ETV2 was added\ngene: ETV2 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: ETV2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: ETV2 were set to 33359164\nPhenotypes for gene: ETV2 were set to multiple fetal anomalies; congenital heart disease MONDO:000545, ETV2-related; vertebral malformations\nReview for gene: ETV2 was set to RED\nAdded comment: 1 family with 4 fetus-es all cHet for a fs (NMD-predicted) and a missense\r\n\r\n3/4 vertebral malformations\r\n2/4 Tetralogy of Fallot\r\n1/4 arterial septal defect\r\n1/4 ventricular septal defect, aortic dilatation\r\n1/4 pre-axial polydactyly \nSources: Expert Review","entity_name":"ETV2","entity_type":"gene"},{"created":"2022-05-30T17:31:31.040494+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1610","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: U2AF2 were changed from Epilepsy; Developmental Delay; Intellectual Disability to Neurodevelopmental disorder MONDO:0700092, MMGT1-related","entity_name":"U2AF2","entity_type":"gene"},{"created":"2022-05-30T17:30:39.026772+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4806","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: U2AF2 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related","entity_name":"U2AF2","entity_type":"gene"},{"created":"2022-05-30T17:29:51.292841+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: U2AF2 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, U2AF2-related","entity_name":"U2AF2","entity_type":"gene"},{"created":"2022-05-30T17:26:56.357875+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4805","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMGT1 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related","entity_name":"MMGT1","entity_type":"gene"},{"created":"2022-05-30T17:26:18.878588+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4804","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MMGT1: Changed phenotypes: Neurodevelopmental disorder MONDO:0700092, MMGT1-related","entity_name":"MMGT1","entity_type":"gene"},{"created":"2022-05-30T17:25:49.143403+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.27","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MMGT1 were changed from Developmental disorders to Neurodevelopmental disorder MONDO:0700092, MMGT1-related","entity_name":"MMGT1","entity_type":"gene"},{"created":"2022-05-30T17:19:56.981359+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.26","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: MSX1 were set to 33419968, 33708320, 32192766","entity_name":"MSX1","entity_type":"gene"},{"created":"2022-05-30T17:17:56.120156+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:17:56.107547+10:00","panel_name":"Proteinuria","panel_id":144,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp2 has been classified as Green List (High Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:17:31.623960+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.25","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP2 were set to ","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:17:06.574243+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.24","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:16:36.093535+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:16:36.080760+10:00","panel_name":"Deafness_IsolatedAndComplex","panel_id":209,"panel_version":"1.136","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp2 has been classified as Green List (High Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:16:04.294756+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP2 were set to ","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:15:06.740402+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:15:06.726995+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp2 has been classified as Green List (High Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:15:02.927616+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.452","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP2 were changed from  to Donnai-Barrow syndrome, MIM#222448","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:14:29.468636+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.451","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP2 were set to ","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:13:59.334916+10:00","panel_name":"Callosome","panel_id":205,"panel_version":"0.450","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:13:01.729380+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4804","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LRP2 as ready","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:13:01.706969+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4804","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lrp2 has been classified as Green List (High Evidence).","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:12:57.487775+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4804","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LRP2 were changed from  to Donnai-Barrow syndrome, MIM#222448","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:12:20.410212+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4803","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LRP2 were set to ","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:11:46.302479+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4802","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: LRP2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"LRP2","entity_type":"gene"},{"created":"2022-05-30T17:02:00.012861+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ADD1 as ready","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-30T17:01:59.967645+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: add1 has been classified as Green List (High Evidence).","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-30T17:01:53.430454+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ADD1 as Green List (high evidence)","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-30T17:01:53.418106+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.37","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: add1 has been classified as Green List (High Evidence).","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-30T17:00:33.113607+10:00","panel_name":"Fetal anomalies","panel_id":3763,"panel_version":"1.36","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ADD1 was added\ngene: ADD1 was added to Fetal anomalies. Sources: Expert Review\nMode of inheritance for gene: ADD1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ADD1 were set to 34906466\nPhenotypes for gene: ADD1 were set to Neurodevelopmental disorder MONDO:0700092, ADD1-related\nReview for gene: ADD1 was set to GREEN\nAdded comment: 4 unrelated individuals affected by ID and/or complete or partial agenesis of corpus callosum, and enlarged lateral ventricles. WES found loss-of-function variants - 1 recessive missense variant and 3 de novo variants. The recessive variant is associated with ACC and enlarged lateral ventricles, and the de novo variants were associated with complete or partial agenesis of corpus callosum, mild ID and attention deficit. Human variants impair ADD1 protein expression and/or dimerization with ADD2. Add1 knockout mice recapitulate corpus callosum dysgenesis and ventriculomegaly phenotypes. Three adducin genes (ADD1, ADD2, and ADD3) encode cytoskeleton proteins that are critical for osmotic rigidity and cell shape. ADD1, ADD2, and ADD3 form heterodimers (ADD1/ADD2, ADD1/ADD3), which further form heterotetramers. Adducins interconnect spectrin and actin filaments to form polygonal scaffolds beneath the cell membranes and form ring-like structures in neuronal axons. Adducins regulate mouse neural development, but their function in the human brain is unknown \nSources: Expert Review","entity_name":"ADD1","entity_type":"gene"},{"created":"2022-05-30T16:16:14.856593+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.63","user_name":"Teresa Zhao","item_type":"entity","text":"Deleted their review","entity_name":"CRYAB","entity_type":"gene"},{"created":"2022-05-30T16:15:31.902011+10:00","panel_name":"Limb Girdle Muscular Dystrophy","panel_id":3071,"panel_version":"0.63","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 31215171; Phenotypes: Myofibrillar myopathy, fatal infantile hypertonic, alpha-B crystallin-related (MIM#613869); Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"CRYAB","entity_type":"gene"},{"created":"2022-05-30T16:12:28.480604+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.344","user_name":"Teresa Zhao","item_type":"entity","text":"reviewed gene: CRYAB: Rating: GREEN; Mode of pathogenicity: None; Publications: 26402864; Phenotypes: Cataract 16, multiple types (MIM#613763); Mode of inheritance: BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"CRYAB","entity_type":"gene"},{"created":"2022-05-30T14:36:03.444320+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.23","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: AURKC were set to ","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-30T14:35:33.844172+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AURKC as Green List (high evidence)","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-30T14:35:33.829754+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: aurkc has been classified as Green List (High Evidence).","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-30T14:31:23.083159+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: AURKC: Rating: GREEN; Mode of pathogenicity: None; Publications: 21733974, 19147683; Phenotypes: Spermatogenic failure 5 , OMIM #243060; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"AURKC","entity_type":"gene"},{"created":"2022-05-30T14:29:15.334030+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ATPAF2 as ready","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-30T14:29:15.321032+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: atpaf2 has been classified as Red List (Low Evidence).","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-30T14:29:12.066819+10:00","panel_name":"Cardiomyopathy_Paediatric","panel_id":3270,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ATPAF2 were set to ","entity_name":"ATPAF2","entity_type":"gene"},{"created":"2022-05-30T14:27:27.217167+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJA5 as Amber List (moderate evidence)","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:27:27.204909+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja5 has been classified as Amber List (Moderate Evidence).","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:26:52.918369+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.20","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:18:20.642460+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJA5 as ready","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:18:20.627885+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja5 has been classified as Amber List (Moderate Evidence).","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:16:15.086892+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJA5 were changed from  to Atrial fibrillation, familial, 11, OMIM# 614049","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:15:39.689967+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJA5 were set to ","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:14:52.565994+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJA5 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:14:09.164219+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GJA5 as Amber List (moderate evidence)","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:14:09.152466+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja5 has been classified as Amber List (Moderate Evidence).","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:13:38.952402+10:00","panel_name":"Atrial Fibrillation","panel_id":210,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJA5: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Atrial fibrillation, familial, 11, OMIM# 614049; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA5","entity_type":"gene"},{"created":"2022-05-30T14:10:38.867076+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4801","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GEMIN4 were set to 25558065; 30237576","entity_name":"GEMIN4","entity_type":"gene"},{"created":"2022-05-29T16:40:11.799356+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB2 as ready","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-29T16:40:11.784185+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb2 has been classified as Green List (High Evidence).","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-29T16:40:07.559428+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.126","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB2 were changed from  to Bart-Pumphrey syndrome, MIM#149200; Deafness, autosomal dominant 3A, MIM#601544; Deafness, autosomal recessive 1A, MIM#220290; Hystrix-like ichthyosis with deafness, MIM#602540; Keratitis-ichthyosis-deafness syndrome, MIM#148210; Keratoderma, palmoplantar, with deafness, MIM#148350; Vohwinkel syndrome, MIM# 124500","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-29T16:39:30.702864+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.125","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJB2 were set to ","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-29T16:38:56.911553+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.124","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB2 was changed from Unknown to BOTH monoallelic and biallelic, autosomal or pseudoautosomal","entity_name":"GJB2","entity_type":"gene"},{"created":"2022-05-29T16:37:54.818377+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJB3 as ready","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-29T16:37:54.806813+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gjb3 has been classified as Green List (High Evidence).","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-29T16:37:50.755166+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.123","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJB3 were changed from  to Erythrokeratodermia variabilis et progressiva 1, OMIM #133200","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-29T16:36:00.628438+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJB3 were set to ","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-29T16:35:20.985012+10:00","panel_name":"Palmoplantar Keratoderma and Erythrokeratoderma","panel_id":153,"panel_version":"0.121","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJB3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJB3","entity_type":"gene"},{"created":"2022-05-29T16:33:27.267289+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLE1 as ready","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:33:27.254051+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gle1 has been classified as Green List (High Evidence).","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:33:21.672578+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.348","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLE1 were changed from  to Lethal congenital contracture syndrome 1, MIM# 253310","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:32:50.393722+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.347","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLE1 were set to ","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:32:13.389363+10:00","panel_name":"Arthrogryposis","panel_id":47,"panel_version":"0.346","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:31:33.981957+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GLE1 as ready","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:31:33.970250+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gle1 has been classified as Green List (High Evidence).","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:31:07.486812+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.278","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GLE1 were changed from  to Lethal congenital contracture syndrome 1, MIM# 253310","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:30:37.505910+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.277","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GLE1 were set to ","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:30:04.594734+10:00","panel_name":"Hydrops fetalis","panel_id":116,"panel_version":"0.276","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GLE1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GLE1","entity_type":"gene"},{"created":"2022-05-29T16:28:31.132516+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCNT2 as ready","entity_name":"GCNT2","entity_type":"gene"},{"created":"2022-05-29T16:28:31.119614+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gcnt2 has been classified as Green List (High Evidence).","entity_name":"GCNT2","entity_type":"gene"},{"created":"2022-05-29T16:28:26.539001+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.344","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GCNT2 were changed from  to Cataract 13 with adult i phenotype, OMIM # 116700","entity_name":"GCNT2","entity_type":"gene"},{"created":"2022-05-29T16:27:51.389746+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.343","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GCNT2 were set to ","entity_name":"GCNT2","entity_type":"gene"},{"created":"2022-05-29T16:27:09.427927+10:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.342","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GCNT2 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"GCNT2","entity_type":"gene"},{"created":"2022-05-29T16:25:39.706758+10:00","panel_name":"Hyperinsulinism","panel_id":118,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GCK as ready","entity_name":"GCK","entity_type":"gene"}]}