{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1200","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1198","results":[{"created":"2021-09-27T15:01:42.902331+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1230","user_name":"Kavitha Kothur","item_type":"entity","text":"gene: ATP6V1B2 was added\ngene: ATP6V1B2 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ATP6V1B2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V1B2 were set to 31655144; 32934366; 32597767\nPhenotypes for gene: ATP6V1B2 were set to Epileptic encephalopathy; Intellectual Disability; microcephaly, DOORS syndrome\nReview for gene: ATP6V1B2 was set to GREEN\nAdded comment: Sources: Literature","entity_name":"ATP6V1B2","entity_type":"gene"},{"created":"2021-09-27T14:50:00.832989+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1230","user_name":"Kavitha Kothur","item_type":"entity","text":"gene: ATP6V0C was added\ngene: ATP6V0C was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: ATP6V0C was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ATP6V0C were set to 33190975; 33090716\nPhenotypes for gene: ATP6V0C were set to Epilepsy; Intellectual Disability; microcephaly\nPenetrance for gene: ATP6V0C were set to unknown\nReview for gene: ATP6V0C was set to AMBER\nAdded comment: Sources: Literature","entity_name":"ATP6V0C","entity_type":"gene"},{"created":"2021-09-27T14:49:54.269355+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KIDINS220 as ready","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-27T14:49:54.265117+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Phenotypic overlap with CP particularly for mono-allelic disease association.","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-27T14:49:54.234219+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Green List (High Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-27T14:49:45.168627+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KIDINS220 as Green List (high evidence)","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-27T14:49:45.156642+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.157","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kidins220 has been classified as Green List (High Evidence).","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-27T14:33:47.568287+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.156","user_name":"Krithika Murali","item_type":"entity","text":"gene: KIDINS220 was added\ngene: KIDINS220 was added to Cerebral Palsy. Sources: Expert list,Literature\nMode of inheritance for gene: KIDINS220 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KIDINS220 were set to 30542205\nPhenotypes for gene: KIDINS220 were set to Spastic paraplegia, intellectual disability, nystagmus, and obesity - #617296; Ventriculomegaly and arthrogryposis - #619501\nReview for gene: KIDINS220 was set to GREEN\nAdded comment: Well-established association with AD spastic paraplegia and AR ventriculomegaly and arthrogryposis - phenotypic overlap noted with CP.\r\n\r\nAlso reported in 2 siblings with atypical CP likely due to parental germline mosaicism (PMID 30542205)\r\n\r\nAlternative gene names: ARMS \nSources: Expert list, Literature","entity_name":"KIDINS220","entity_type":"gene"},{"created":"2021-09-27T14:17:31.661390+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9249","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM7A as ready","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:17:31.652122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9249","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm7a has been classified as Red List (Low Evidence).","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:17:20.589211+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9249","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KDM7A was added\ngene: KDM7A was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: KDM7A was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KDM7A were set to 25666757\nPhenotypes for gene: KDM7A were set to Cerebral palsy\nReview for gene: KDM7A was set to RED\nAdded comment: Synonyms: JHDMID, KDM7, KIAA1718\r\n\r\nDe novo missense VUS identified in a WES CP cohort study, no other reports. \nSources: Literature","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:17:18.507354+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KDM7A as ready","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:17:18.498266+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm7a has been classified as Red List (Low Evidence).","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:17:02.652084+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.156","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KDM7A were changed from  to Cerebral palsy","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:15:48.823177+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KDM7A as Red List (low evidence)","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:15:48.811548+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.155","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kdm7a has been classified as Red List (Low Evidence).","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T14:15:03.062470+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNQ2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Developmental and epileptic encephalopathy 7 - #613720; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-09-27T14:14:14.508169+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNQ2 as ready","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-09-27T14:14:14.493968+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq2 has been classified as Green List (High Evidence).","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-09-27T14:14:12.199653+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.154","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNQ2 were changed from Developmental and epileptic encephalopathy 7 - #613720; Myokymia - #121200; Seizures, benign neonatal, 1 - #121200 to Developmental and epileptic encephalopathy 7 - #613720","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-09-27T14:13:48.560633+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNQ2 as Green List (high evidence)","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-09-27T14:13:48.547999+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.153","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnq2 has been classified as Green List (High Evidence).","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-09-27T14:12:45.195762+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9248","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROBO1 as ready","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:12:45.185228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9248","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo1 has been classified as Green List (High Evidence).","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:12:38.046262+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9248","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: ROBO1 were changed from  to Congenital heart disease; Pituitary anomalies","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:12:20.872573+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9247","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: ROBO1 were set to ","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:12:04.513415+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9246","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: ROBO1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:11:42.292585+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9245","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: ROBO1: Rating: GREEN; Mode of pathogenicity: None; Publications: 28592524, 30530901, 30692597, 33270637, 28402530; Phenotypes: Congenital heart disease, Pituitary anomalies; Mode of inheritance: BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:08:42.364062+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ROBO1 as ready","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:08:42.354380+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo1 has been classified as Green List (High Evidence).","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:08:35.303133+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ROBO1 as Green List (high evidence)","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T14:08:35.293656+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: robo1 has been classified as Green List (High Evidence).","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-27T13:26:30.587564+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"entity","text":"changed review comment from: Synonyms: JHDMID, KDM7, KIAA1718\r\n\r\nDe novo missense VUS identified in a WES CP cohort study in a gene not known to be associated with disease. \nSources: Expert list, Literature; to: Synonyms: JHDMID, KDM7, KIAA1718\r\n\r\nDe novo missense VUS identified in a WES CP cohort study in a gene not known to be associated with disease. \r\nSources: Literature","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T13:25:55.985948+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"entity","text":"gene: KDM7A was added\ngene: KDM7A was added to Cerebral Palsy. Sources: Expert list,Literature\nMode of inheritance for gene: KDM7A was set to Unknown\nPublications for gene: KDM7A were set to 25666757\nReview for gene: KDM7A was set to RED\nAdded comment: Synonyms: JHDMID, KDM7, KIAA1718\r\n\r\nDe novo missense VUS identified in a WES CP cohort study in a gene not known to be associated with disease. \nSources: Expert list, Literature","entity_name":"KDM7A","entity_type":"gene"},{"created":"2021-09-27T12:26:42.494206+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.152","user_name":"Krithika Murali","item_type":"entity","text":"gene: KCNQ2 was added\ngene: KCNQ2 was added to Cerebral Palsy. Sources: Expert list,Literature\nMode of inheritance for gene: KCNQ2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNQ2 were set to 33557955; 32585800; 22275249; 28655139\nPhenotypes for gene: KCNQ2 were set to Developmental and epileptic encephalopathy 7 - #613720; Myokymia - #121200; Seizures, benign neonatal, 1 - #121200\nReview for gene: KCNQ2 was set to AMBER\nAdded comment: Well-validated association with early-onset epileptic encephalopathy (ClinGen) and neonatal seizures.  \r\n\r\n\r\nIn addition, KCNQ2 pathogenic variants reported in multiple individuals  with intractable neonatal seizures and associated intellectual disability, developmental delay and motor impairment (axial hypotonia and/or spastic quadriplegia) - (PMID 22275249)\r\n\r\nx2 case reports of associated CP - 6 year old M with neonatal seizures and a CP-like syndrome. KCNQ2 exon 7 partial duplication impairing gene function (ClinVar ID 617505) - (PMID 32585800 and 33557955) and 2 year old F with perinatal encephalopathy, severe tetraparesis and cerebral visual impairment (PMID 28655139).  Neonatal epileptic encephalopathy primary presentation in both cases.\r\n\r\nOn Expert CP Gene List. \nSources: Expert list, Literature","entity_name":"KCNQ2","entity_type":"gene"},{"created":"2021-09-27T08:49:00.234990+10:00","panel_name":"Pituitary hormone deficiency","panel_id":3236,"panel_version":"0.18","user_name":"Natasha Brown","item_type":"entity","text":"gene: ROBO1 was added\ngene: ROBO1 was added to Pituitary hormone deficiency. Sources: Literature\nMode of inheritance for gene: ROBO1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: ROBO1 were set to PMID: 30530901; 30692597; 33270637; 28402530\nPhenotypes for gene: ROBO1 were set to pituitary stalk interruption syndrome; pituitary anomalies; pituitary hormone deficiency\nReview for gene: ROBO1 was set to GREEN\nAdded comment: PMID: 30692597 novel hmz splice, single case; severe phenotype combined pituitary hormone deficiency, psychomotor developmental delay, severe intellectual disability, sensorineural hearing loss, strabismus, dysmorphism; parents reported to be unaffected.\r\nPMID: 30530901 Two affected from one family with 343.7 kb deletion of 3p12.3 encompassing ROBO1 \r\nPMID: 33270637 Larger cohort study found four individiuals (2x LOF; 2x missense) all het variants however those with missense variants also had other variants in different genes, evidence for pathogenicity of missense variants less clear.\r\nPMID: 28402530 In five unexplained cases of pit stalk interruption, found: p.Ala977Glnfs*40 in two affected sibs; p.Tyr1114Ter in a sporadic case, and p.Cys240Ser, affected child and paternal aunt.  All heterozygous. \nSources: Literature","entity_name":"ROBO1","entity_type":"gene"},{"created":"2021-09-26T18:08:21.474444+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF1 as ready","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:08:21.465328+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef1 has been classified as Green List (High Evidence).","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:08:15.297553+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARFGEF1 as Green List (high evidence)","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:08:15.287870+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4139","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef1 has been classified as Green List (High Evidence).","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:07:29.362951+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4138","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARFGEF1 was added\ngene: ARFGEF1 was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARFGEF1 were set to 34113008\nPhenotypes for gene: ARFGEF1 were set to Intellectual disability; Epilepsy\nReview for gene: ARFGEF1 was set to GREEN\nAdded comment: 13 individuals reported with variants in this gene and a neurodevelopmental disorder characterised by variable ID, seizures present in around half. Variants were inherited from mildly affected parents in 40% of families. \nSources: Literature","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:06:55.421969+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1230","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF1 as ready","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:06:55.411729+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef1 has been classified as Green List (High Evidence).","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:06:20.184224+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1230","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARFGEF1 as Green List (high evidence)","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:06:20.174652+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1230","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef1 has been classified as Green List (High Evidence).","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:05:29.477100+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1229","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARFGEF1 was added\ngene: ARFGEF1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARFGEF1 were set to 34113008\nPhenotypes for gene: ARFGEF1 were set to Intellectual disability; Epilepsy\nReview for gene: ARFGEF1 was set to GREEN\nAdded comment: 13 individuals reported with variants in this gene and a neurodevelopmental disorder characterised by variable ID, seizures present in around half. Variants were inherited from mildly affected parents in 40% of families. \nSources: Expert Review","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:04:50.535798+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9245","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARFGEF1 as ready","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:04:50.525901+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef1 has been classified as Green List (High Evidence).","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:04:34.313047+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9245","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ARFGEF1 as Green List (high evidence)","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:04:34.301377+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9245","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: arfgef1 has been classified as Green List (High Evidence).","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T18:04:12.287174+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9244","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ARFGEF1 was added\ngene: ARFGEF1 was added to Mendeliome. Sources: Expert Review\nMode of inheritance for gene: ARFGEF1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ARFGEF1 were set to 34113008\nPhenotypes for gene: ARFGEF1 were set to Intellectual disability; Epilepsy\nReview for gene: ARFGEF1 was set to GREEN\nAdded comment: 13 individuals reported with variants in this gene and a neurodevelopmental disorder characterised by variable ID, seizures present in around half. Variants were inherited from mildly affected parents in 40% of families. \nSources: Expert Review","entity_name":"ARFGEF1","entity_type":"gene"},{"created":"2021-09-26T17:59:01.407052+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1228","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: AP4B1 as ready","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-09-26T17:59:01.392977+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Green List (High Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-09-26T17:58:56.970168+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1228","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: AP4B1 as Green List (high evidence)","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-09-26T17:58:56.960942+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ap4b1 has been classified as Green List (High Evidence).","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-09-26T17:58:21.220852+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1227","user_name":"Zornitza Stark","item_type":"entity","text":"gene: AP4B1 was added\ngene: AP4B1 was added to Genetic Epilepsy. Sources: Expert Review\nMode of inheritance for gene: AP4B1 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: AP4B1 were set to 21620353; 22290197; 24700674; 24781758; 32166732\nPhenotypes for gene: AP4B1 were set to Spastic paraplegia 47, autosomal recessive, MIM# 614066\nReview for gene: AP4B1 was set to GREEN\nAdded comment: Autosomal recessive neurodegenerative disorder characterised by neonatal hypotonia that progresses to hypertonia and spasticity and severe ID with poor or absent speech development. Microcephaly is an early, presenting feature. Seizures reported in at least 3 families.\r\n\r\n>5 unrelated families reported. \nSources: Expert Review","entity_name":"AP4B1","entity_type":"gene"},{"created":"2021-09-26T12:51:23.398221+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9243","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NPR3 as ready","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:51:23.389338+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9243","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: npr3 has been classified as Green List (High Evidence).","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:51:15.982019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9243","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPR3 were changed from  to Boudin-Mortier syndrome, MIM#619543; Tall stature, skeletal abnormalities, aortic dilatation","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:50:54.815142+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9242","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NPR3 were set to ","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:50:37.419294+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9241","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NPR3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:50:13.324130+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9240","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NPR3: Rating: GREEN; Mode of pathogenicity: None; Publications: 30032985; Phenotypes: Boudin-Mortier syndrome, MIM#619543, Tall stature, skeletal abnormalities, aortic dilatation; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:49:19.734324+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.55","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NPR3 were changed from Tall stature, skeletal abnormalities, aortic dilatation to Boudin-Mortier syndrome, MIM#619543; Tall stature, skeletal abnormalities, aortic dilatation","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:48:44.735426+10:00","panel_name":"Aortopathy_Connective Tissue Disorders","panel_id":44,"panel_version":"1.54","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: NPR3: Changed phenotypes: Boudin-Mortier syndrome, MIM#619543, Tall stature, skeletal abnormalities, aortic dilatation","entity_name":"NPR3","entity_type":"gene"},{"created":"2021-09-26T12:48:06.973414+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4137","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRR12 were changed from intellectual disability; iris abnormalities to Neuroocular syndrome, MIM#619539; Intellectual disability; Iris abnormalities; Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2021-09-26T12:47:27.807498+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.4136","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRR12: Changed phenotypes: Neuroocular syndrome, MIM#619539, Intellectual disability, Iris abnormalities, Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2021-09-26T12:47:04.296255+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9240","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRR12 were changed from Intellectual disability; Iris abnormalities; Complex microphthalmia to Neuroocular syndrome, MIM#619539; Intellectual disability; Iris abnormalities; Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2021-09-26T12:46:43.134202+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9239","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRR12: Changed phenotypes: Neuroocular syndrome, MIM#619539, Intellectual disability, Iris abnormalities, Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2021-09-26T12:46:21.718295+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRR12 were changed from Complex microphthalmia to Neuroocular syndrome, MIM#619539; Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2021-09-26T12:45:47.242526+10:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.7","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: PRR12: Changed phenotypes: Neuroocular syndrome, MIM#619539, Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2021-09-25T14:33:11.027233+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9239","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC3 as ready","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:33:11.017269+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9239","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc3 has been classified as Green List (High Evidence).","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:32:49.307874+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9239","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KCNC3 were changed from  to Spinocerebellar ataxia 13, MIM# 605259","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:32:29.462188+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9238","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KCNC3 were set to ","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:32:09.735709+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9237","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KCNC3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:31:52.243435+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9236","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KCNC3: Rating: GREEN; Mode of pathogenicity: None; Publications: 16501573, 25497598, 25981959, 25981959; Phenotypes: Spinocerebellar ataxia 13, MIM# 605259; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:31:05.141530+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KCNC3 as ready","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:31:05.130397+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc3 has been classified as Green List (High Evidence).","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:31:01.506974+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KCNC3 as Green List (high evidence)","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:31:01.496781+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.152","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kcnc3 has been classified as Green List (High Evidence).","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:29:34.000188+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNC3 was added\ngene: KCNC3 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNC3 were set to 16501573; 25497598; 25981959; 25981959\nPhenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13, MIM# 605259\nReview for gene: KCNC3 was set to GREEN\nAdded comment: ID and ataxia, variable age of onset, including in childhood. Reported in ataxic CP cohort. \nSources: Expert list","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:29:11.625075+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.151","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KCNC3 was added\ngene: KCNC3 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: KCNC3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: KCNC3 were set to 16501573; 25497598; 25981959; 25981959\nPhenotypes for gene: KCNC3 were set to Spinocerebellar ataxia 13, MIM# 605259\nReview for gene: KCNC3 was set to GREEN\nAdded comment: ID and ataxia, variable age of onset, including in childhood. Reported in ataxic CP cohort. \nSources: Expert list","entity_name":"KCNC3","entity_type":"gene"},{"created":"2021-09-25T14:26:03.058440+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ITPR1 as ready","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-09-25T14:26:03.048081+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpr1 has been classified as Green List (High Evidence).","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-09-25T14:25:58.815116+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: ITPR1 as Green List (high evidence)","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-09-25T14:25:58.806276+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.150","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: itpr1 has been classified as Green List (High Evidence).","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-09-25T14:25:30.666045+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.149","user_name":"Zornitza Stark","item_type":"entity","text":"gene: ITPR1 was added\ngene: ITPR1 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: ITPR1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: ITPR1 were set to 28826917; 25981959; 22986007\nPhenotypes for gene: ITPR1 were set to Spinocerebellar ataxia 29, congenital nonprogressive MIM#117360\nReview for gene: ITPR1 was set to GREEN\nAdded comment: Variants in this gene reported in individuals diagnosed with ataxic CP. \nSources: Expert list","entity_name":"ITPR1","entity_type":"gene"},{"created":"2021-09-25T14:19:56.110896+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: IQSEC2 as ready","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2021-09-25T14:19:56.097288+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: iqsec2 has been classified as Red List (Low Evidence).","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2021-09-25T14:19:48.852458+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.148","user_name":"Zornitza Stark","item_type":"entity","text":"gene: IQSEC2 was added\ngene: IQSEC2 was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: IQSEC2 was set to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)\nPublications for gene: IQSEC2 were set to 33368194; 20473311; 23674175\nPhenotypes for gene: IQSEC2 were set to Mental retardation, X-linked 1/78, MIM# 309530, MONDO:0010656; Severe intellectual disability-progressive postnatal microcephaly- midline stereotypic hand movements syndrome MONDO:0018347\nReview for gene: IQSEC2 was set to RED\nAdded comment: More than 20 unrelated families reported. Typical features are ID, microcephaly and hand stereotypies. Phenotypic overlap with Angelman-Rett-like syndromes rather than CP. \nSources: Expert list","entity_name":"IQSEC2","entity_type":"gene"},{"created":"2021-09-25T14:16:13.991739+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HPCA as ready","entity_name":"HPCA","entity_type":"gene"},{"created":"2021-09-25T14:16:13.979232+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hpca has been classified as Red List (Low Evidence).","entity_name":"HPCA","entity_type":"gene"},{"created":"2021-09-25T14:16:07.996237+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"changed review comment from: Isolated dystonia, variable age of onset, including in adolescence. Insufficient phenotypic overlap with CP. \nSources: Expert list; to: Four families reported. Isolated dystonia, variable age of onset, including in adolescence. Insufficient phenotypic overlap with CP. \r\nSources: Expert list","entity_name":"HPCA","entity_type":"gene"},{"created":"2021-09-25T14:15:56.519907+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.147","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HPCA was added\ngene: HPCA was added to Cerebral Palsy. Sources: Expert list\nMode of inheritance for gene: HPCA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: HPCA were set to 30145809; 25799108\nPhenotypes for gene: HPCA were set to Dystonia 2, torsion, autosomal recessive, MIM#224500\nReview for gene: HPCA was set to RED\nAdded comment: Isolated dystonia, variable age of onset, including in adolescence. Insufficient phenotypic overlap with CP. \nSources: Expert list","entity_name":"HPCA","entity_type":"gene"},{"created":"2021-09-25T14:10:45.974900+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.53","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MINPP1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 16, MIM# 619527","entity_name":"MINPP1","entity_type":"gene"},{"created":"2021-09-25T14:10:20.396987+10:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"1.52","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MINPP1: Changed phenotypes: Pontocerebellar hypoplasia, type 16, MIM# 619527","entity_name":"MINPP1","entity_type":"gene"},{"created":"2021-09-25T14:10:01.399924+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9236","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MINPP1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 16, MIM# 619527","entity_name":"MINPP1","entity_type":"gene"},{"created":"2021-09-25T14:09:40.957627+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.9235","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MINPP1: Changed phenotypes: Pontocerebellar hypoplasia, type 16, MIM# 619527","entity_name":"MINPP1","entity_type":"gene"},{"created":"2021-09-25T14:09:24.706932+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.146","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MINPP1 were changed from Pontocerebellar hypoplasia to Pontocerebellar hypoplasia, type 16, MIM# 619527","entity_name":"MINPP1","entity_type":"gene"},{"created":"2021-09-25T14:08:58.981450+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"0.145","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: MINPP1: Changed phenotypes: Pontocerebellar hypoplasia, type 16, MIM# 619527","entity_name":"MINPP1","entity_type":"gene"}]}