{"count":220324,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1459","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1457","results":[{"created":"2020-12-29T12:47:33.358067+11:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.986","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: YIF1B: Rating: AMBER; Mode of pathogenicity: None; Publications: ; Phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-12-29T12:47:05.688306+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.514","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM# 619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-12-29T12:46:33.318073+11:00","panel_name":"Microcephaly","panel_id":138,"panel_version":"0.513","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-12-29T12:46:12.765368+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5861","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: YIF1B were changed from Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement to Kaya-Barakat-Masson syndrome, MIM#\t619125; Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-12-29T12:45:48.181958+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5860","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: YIF1B: Changed phenotypes: Kaya-Barakat-Masson syndrome, MIM# 619125, Central hypotonia, Failure to thrive, Microcephaly, Global developmental delay, Intellectual disability, Seizures, Spasticity, Abnormality of movement","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-12-29T12:44:34.487016+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: BSCL2 as ready","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-12-29T12:44:34.475081+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-12-29T12:44:24.765034+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: BSCL2 as Green List (high evidence)","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-12-29T12:44:24.752318+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.228","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: bscl2 has been classified as Green List (High Evidence).","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-12-29T12:43:55.320767+11:00","panel_name":"Regression","panel_id":206,"panel_version":"0.227","user_name":"Zornitza Stark","item_type":"entity","text":"gene: BSCL2 was added\ngene: BSCL2 was added to Regression. Sources: Expert Review\nMode of inheritance for gene: BSCL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: BSCL2 were set to 23564749; 27452399\nPhenotypes for gene: BSCL2 were set to Encephalopathy, progressive, with or without lipodystrophy\t615924\nReview for gene: BSCL2 was set to GREEN\nAdded comment: Progressive encephalopathy with or without lipodystrophy is a severe neurodegenerative disorder characterized by developmental regression of motor and cognitive skills in the first years of life, often leading to death in the first decade. Patients may show a mild or typical lipodystrophic appearance.\r\n\r\nAt least 5 unrelated families reported. The recurrent c.985C-T variant causes skipping of exon 7 (founder effect). \nSources: Expert Review","entity_name":"BSCL2","entity_type":"gene"},{"created":"2020-12-29T12:30:56.392590+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5860","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSTO1 as ready","entity_name":"GSTO1","entity_type":"gene"},{"created":"2020-12-29T12:30:56.383163+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5860","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsto1 has been classified as Red List (Low Evidence).","entity_name":"GSTO1","entity_type":"gene"},{"created":"2020-12-29T12:30:43.382952+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5860","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GSTO1 were changed from  to Deficiency of Human Glutathione Transferase Omega 1","entity_name":"GSTO1","entity_type":"gene"},{"created":"2020-12-29T12:30:20.175118+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5859","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GSTO1 were set to ","entity_name":"GSTO1","entity_type":"gene"},{"created":"2020-12-29T12:30:00.673321+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5858","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GSTO1 as Red List (low evidence)","entity_name":"GSTO1","entity_type":"gene"},{"created":"2020-12-29T12:30:00.662672+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5858","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsto1 has been classified as Red List (Low Evidence).","entity_name":"GSTO1","entity_type":"gene"},{"created":"2020-12-29T12:20:12.645413+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: PRPS1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"PRPS1","entity_type":"gene"},{"created":"2020-12-29T12:18:43.271271+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"gene: PLS1 was added\ngene: PLS1 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: PLS1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: PLS1 were set to Deafness\nReview for gene: PLS1 was set to GREEN\nAdded comment: Deafness_isolated list \nSources: Expert list","entity_name":"PLS1","entity_type":"gene"},{"created":"2020-12-29T12:16:24.408781+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: OTOG: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Deafness, autosomal recessive 18B, MIM#614945; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"OTOG","entity_type":"gene"},{"created":"2020-12-29T12:14:42.970979+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"gene: OSBPL2 was added\ngene: OSBPL2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: OSBPL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: OSBPL2 were set to Deafness, autosomal dominant 67, MIM# 616340\nReview for gene: OSBPL2 was set to GREEN\nAdded comment: From deafness_isolated \nSources: Expert list","entity_name":"OSBPL2","entity_type":"gene"},{"created":"2020-12-29T12:12:45.332105+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: MSRB3: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: deafness; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"MSRB3","entity_type":"gene"},{"created":"2020-12-29T12:10:58.047799+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"gene: MPZL2 was added\ngene: MPZL2 was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: MPZL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: MPZL2 were set to Deafness, autosomal recessive 111, MIM#618145\nReview for gene: MPZL2 was set to GREEN\nAdded comment: From deafness_isolated \nSources: Expert list","entity_name":"MPZL2","entity_type":"gene"},{"created":"2020-12-29T12:08:57.612109+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"gene: LMX1A was added\ngene: LMX1A was added to Additional findings_Paediatric. Sources: Expert list\nMode of inheritance for gene: LMX1A was set to BOTH monoallelic and biallelic, autosomal or pseudoautosomal\nPhenotypes for gene: LMX1A were set to Deafness MIM#601412\nAdded comment: Can be paediatric or adult onset ?inclusion \nSources: Expert list","entity_name":"LMX1A","entity_type":"gene"},{"created":"2020-12-29T12:06:46.475827+11:00","panel_name":"Additional findings_Paediatric","panel_id":3302,"panel_version":"0.190","user_name":"Lilian Downie","item_type":"entity","text":"reviewed gene: KCNQ1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Jervell and Lange-Nielsen syndrome MIM#220400; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KCNQ1","entity_type":"gene"},{"created":"2020-12-29T09:39:01.337765+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5857","user_name":"Elena Savva","item_type":"entity","text":"reviewed gene: GSTO1: Rating: RED; Mode of pathogenicity: None; Publications: PMID: 21106529; Phenotypes: Deficiency of Human Glutathione Transferase Omega 1; Mode of inheritance: None","entity_name":"GSTO1","entity_type":"gene"},{"created":"2020-12-29T08:52:05.696738+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"1.0","user_name":"Zornitza Stark","item_type":"panel","text":"promoted panel to version 1.0","entity_name":null,"entity_type":null},{"created":"2020-12-29T08:51:32.732561+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: COL4A1 as ready","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-12-29T08:51:32.721021+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: col4a1 has been classified as Green List (High Evidence).","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-12-29T08:51:29.493310+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.209","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: COL4A1 were changed from  to Brain small vessel disease with or without ocular anomalies, MIM#175780","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-12-29T08:51:04.077093+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.208","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: COL4A1 were set to ","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-12-29T08:50:36.455223+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.207","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: COL4A1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-12-29T08:50:07.037471+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: COL4A1: Rating: GREEN; Mode of pathogenicity: None; Publications: 24628545; Phenotypes: Brain small vessel disease with or without ocular anomalies, MIM#175780; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"COL4A1","entity_type":"gene"},{"created":"2020-12-29T08:47:09.166664+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: POMT1 as ready","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-12-29T08:47:09.154004+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pomt1 has been classified as Green List (High Evidence).","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-12-29T08:47:03.094328+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.206","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: POMT1 were changed from  to Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670; Walker-Walburg syndrome","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-12-29T08:46:35.429848+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.205","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: POMT1 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-12-29T08:46:05.095248+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: POMT1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Muscular dystrophy-dystroglycanopathy (congenital with brain and eye anomalies), type A, 1 236670, Walker-Walburg syndrome; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"POMT1","entity_type":"gene"},{"created":"2020-12-29T08:44:35.358882+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: OCRL as ready","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-12-29T08:44:35.348550+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ocrl has been classified as Green List (High Evidence).","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-12-29T08:44:30.914346+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.204","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: OCRL were changed from  to Lowe syndrome, MIM# 309000","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-12-29T08:44:04.111361+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.203","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: OCRL was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-12-29T08:43:35.420979+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: OCRL: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Lowe syndrome, MIM# 309000; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"OCRL","entity_type":"gene"},{"created":"2020-12-29T08:42:41.836344+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NDP as ready","entity_name":"NDP","entity_type":"gene"},{"created":"2020-12-29T08:42:41.822768+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: ndp has been classified as Green List (High Evidence).","entity_name":"NDP","entity_type":"gene"},{"created":"2020-12-29T08:42:36.371303+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.202","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NDP were changed from  to Norrie disease, MIM# 310600","entity_name":"NDP","entity_type":"gene"},{"created":"2020-12-29T08:42:04.918672+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.201","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NDP was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDP","entity_type":"gene"},{"created":"2020-12-29T08:41:35.758799+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NDP: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Norrie disease, MIM# 310600; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NDP","entity_type":"gene"},{"created":"2020-12-29T08:39:57.129655+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5857","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: NAA10.","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:39:30.339318+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: NAA10 as ready","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:39:30.323738+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: naa10 has been classified as Green List (High Evidence).","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:39:25.862534+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Tag 5'UTR tag was added to gene: NAA10.","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:39:18.863853+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.200","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: NAA10 were changed from  to Microphthalmia, syndromic 1, MIM# 309800","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:38:41.932183+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.199","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: NAA10 were set to ","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:38:10.858371+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.198","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: NAA10 was changed from Unknown to X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:37:40.705487+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: NAA10: Rating: GREEN; Mode of pathogenicity: None; Publications: 30842225, 24431331; Phenotypes: Microphthalmia, syndromic 1, MIM# 309800; Mode of inheritance: X-LINKED: hemizygous mutation in males, biallelic mutations in females","entity_name":"NAA10","entity_type":"gene"},{"created":"2020-12-29T08:35:18.870520+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PITX3 as ready","entity_name":"PITX3","entity_type":"gene"},{"created":"2020-12-29T08:35:18.858679+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pitx3 has been classified as Green List (High Evidence).","entity_name":"PITX3","entity_type":"gene"},{"created":"2020-12-29T08:35:16.438333+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.197","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PITX3 were changed from  to Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250; Cataract 11, multiple types, MIM# 610623; Microphthalmia","entity_name":"PITX3","entity_type":"gene"},{"created":"2020-12-29T08:34:48.130561+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.196","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PITX3 were set to ","entity_name":"PITX3","entity_type":"gene"},{"created":"2020-12-29T08:33:26.664303+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.195","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PITX3 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PITX3","entity_type":"gene"},{"created":"2020-12-29T08:32:57.655784+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PITX3: Rating: GREEN; Mode of pathogenicity: None; Publications: 29405783; Phenotypes: Anterior segment dysgenesis 1, multiple subtypes, MIM# 107250, Cataract 11, multiple types, MIM# 610623, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PITX3","entity_type":"gene"},{"created":"2020-12-29T08:27:04.723327+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRR12 as ready","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:27:04.709102+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prr12 has been classified as Green List (High Evidence).","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:26:59.538591+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5857","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRR12 as ready","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:26:59.524255+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5857","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prr12 has been classified as Green List (High Evidence).","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:26:51.759274+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5857","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRR12 were changed from  to Intellectual disability; Iris abnormalities; Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:26:31.783891+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5856","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRR12 were set to ","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:26:13.216619+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5855","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:26:04.330603+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.194","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRR12 were changed from  to Complex microphthalmia","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:25:52.942559+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5854","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Intellectual disability, Iris abnormalities, Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:25:13.823203+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.193","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRR12 were set to ","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:24:19.046892+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.192","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRR12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:23:49.650945+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRR12: Rating: GREEN; Mode of pathogenicity: None; Publications: 33314030, 29556724; Phenotypes: Complex microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PRR12","entity_type":"gene"},{"created":"2020-12-29T08:19:49.887225+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5854","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRSS56 as ready","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:19:49.866522+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5854","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prss56 has been classified as Green List (High Evidence).","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:19:42.270470+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5854","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRSS56 were changed from  to Microphthalmia, isolated 6, MIM# 613517","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:19:23.782884+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5853","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRSS56 were set to ","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:19:03.735477+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5852","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:18:43.791886+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5851","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:17:56.862221+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PRSS56 as ready","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:17:56.851682+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: prss56 has been classified as Green List (High Evidence).","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:17:54.143555+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.191","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PRSS56 were changed from  to Microphthalmia, isolated 6, MIM# 613517","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:17:26.160155+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.190","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PRSS56 were set to ","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:16:53.140947+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.189","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PRSS56 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:16:52.305841+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Tag SV/CNV tag was added to gene: HCCS.","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-12-29T08:16:17.439200+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PRSS56: Rating: GREEN; Mode of pathogenicity: None; Publications: 21532570, 23127749, 31992737; Phenotypes: Microphthalmia, isolated 6, MIM# 613517; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"PRSS56","entity_type":"gene"},{"created":"2020-12-29T08:08:45.678090+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: HCCS as ready","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-12-29T08:08:45.664208+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hccs has been classified as Green List (High Evidence).","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-12-29T08:08:42.536988+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.188","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: HCCS were changed from  to Linear skin defects with multiple congenital anomalies 1, MIM# 309801","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-12-29T08:08:13.456926+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.187","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: HCCS were set to ","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-12-29T08:07:28.359862+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.186","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: HCCS was changed from Unknown to X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-12-29T08:06:58.347688+11:00","panel_name":"Anophthalmia_Microphthalmia_Coloboma","panel_id":42,"panel_version":"0.185","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: HCCS: Rating: GREEN; Mode of pathogenicity: None; Publications: 17033964, 30068298, 24735900; Phenotypes: Linear skin defects with multiple congenital anomalies 1, MIM# 309801; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)","entity_name":"HCCS","entity_type":"gene"},{"created":"2020-12-29T08:03:22.290647+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJA8 were changed from Cataract 1, multiple types, MIM# 116200; Microphthalmia to Cataract 1, multiple types, MIM# 116200; Microphthalmia","entity_name":"GJA8","entity_type":"gene"},{"created":"2020-12-29T08:03:21.091088+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJA8 as ready","entity_name":"GJA8","entity_type":"gene"},{"created":"2020-12-29T08:03:21.076830+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gja8 has been classified as Green List (High Evidence).","entity_name":"GJA8","entity_type":"gene"},{"created":"2020-12-29T08:03:02.902560+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.257","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GJA8 were changed from  to Cataract 1, multiple types, MIM# 116200; Microphthalmia","entity_name":"GJA8","entity_type":"gene"},{"created":"2020-12-29T08:02:31.327528+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.256","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GJA8 were set to ","entity_name":"GJA8","entity_type":"gene"},{"created":"2020-12-29T08:02:02.634139+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.255","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GJA8 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA8","entity_type":"gene"},{"created":"2020-12-29T08:01:31.773144+11:00","panel_name":"Cataract","panel_id":66,"panel_version":"0.254","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GJA8: Rating: GREEN; Mode of pathogenicity: None; Publications: 30498267, 29464339, 10480374, 18006672; Phenotypes: Cataract 1, multiple types, MIM# 116200, Microphthalmia; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GJA8","entity_type":"gene"},{"created":"2020-12-29T08:00:50.206897+11:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.5851","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GJA8 as ready","entity_name":"GJA8","entity_type":"gene"}]}