{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1709","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1707","results":[{"created":"2020-07-28T12:35:32.654310+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: DSG4 was added\ngene: DSG4 was added to Hair disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: DSG4 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DSG4 were set to Hypotrichosis 6, 607903","entity_name":"DSG4","entity_type":"gene"},{"created":"2020-07-28T12:35:32.619442+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: CDSN was added\ngene: CDSN was added to Hair disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: CDSN was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDSN were set to 31332722\nPhenotypes for gene: CDSN were set to Hypotrichosis 2, 146520","entity_name":"CDSN","entity_type":"gene"},{"created":"2020-07-28T12:35:32.583955+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"entity","text":"gene: APCDD1 was added\ngene: APCDD1 was added to Hair disorders. Sources: NHS GMS,Expert Review Green\nMode of inheritance for gene: APCDD1 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: APCDD1 were set to Hypotrichosis 1, 605389","entity_name":"APCDD1","entity_type":"gene"},{"created":"2020-07-28T12:35:32.562111+10:00","panel_name":"Hair disorders","panel_id":3269,"panel_version":"0.0","user_name":"Bryony Thompson","item_type":"panel","text":"Added panel Hair disorders","entity_name":null,"entity_type":null},{"created":"2020-07-27T20:08:00.183583+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS as ready","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:08:00.179745+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name LARS1","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:08:00.144256+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Green List (High Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:07:46.980544+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS were changed from ?Infantile liver failure syndrome 1 to Infantile liver failure syndrome 1, MIM# 615438","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:07:10.046430+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3541","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: LARS were set to 28774368; 30349989; 22607940","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:06:46.702725+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3540","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: LARS: Changed publications: 28774368, 30349989, 22607940, 32699352","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:06:01.746005+10:00","panel_name":"Mackenzie's Mission_Reproductive Carrier Screening","panel_id":3139,"panel_version":"0.7","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: LARS.","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:05:22.095233+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3540","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:04:40.191883+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS as ready","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:04:40.186927+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Lenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families.\r\n\r\nSeizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation.\r\n\r\nIn addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities.\r\n\r\nThese patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few).\r\n\r\nThe gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs).\r\n\r\nPlease note that the HGNC approved symbol for this gene is LARS1.","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:04:40.162215+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Green List (High Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:03:44.219743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: LARS.","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:03:25.260678+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS as ready","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:03:25.256824+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is LARS1","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:03:25.233849+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Green List (High Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:03:08.434402+10:00","panel_name":"Cholestasis","panel_id":78,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: LARS.","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:02:51.577119+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2792","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: LARS.","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:02:28.116908+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2792","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS as ready","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:02:28.111980+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2792","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name LARS1","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:02:28.076368+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2792","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Green List (High Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:02:23.770034+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2792","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:01:52.392124+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2791","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LARS as Green List (high evidence)","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:01:52.383559+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2791","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Green List (High Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:01:10.712071+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.762","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LARS as ready","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:01:10.708198+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.762","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: HGNC approved name is LARS1","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:01:10.672590+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.762","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Green List (High Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:01:07.157931+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.762","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: LARS were changed from Infantile liver failure syndrome 1, MIM# 615438 to Infantile liver failure syndrome 1, MIM# 615438; Seizures; Intellectual disability; Encephalopathy","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:00:18.120411+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.761","user_name":"Zornitza Stark","item_type":"entity","text":"Tag new gene name tag was added to gene: LARS.","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:00:08.969976+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.761","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LARS as Green List (high evidence)","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T20:00:08.961556+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.761","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lars has been classified as Green List (High Evidence).","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T19:55:19.767064+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KRT12 as ready","entity_name":"KRT12","entity_type":"gene"},{"created":"2020-07-27T19:55:19.756179+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: krt12 has been classified as Green List (High Evidence).","entity_name":"KRT12","entity_type":"gene"},{"created":"2020-07-27T19:55:17.397914+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KRT12 were changed from  to Meesmann corneal dystrophy 1, MIM# 122100","entity_name":"KRT12","entity_type":"gene"},{"created":"2020-07-27T19:54:43.177899+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KRT12 were set to ","entity_name":"KRT12","entity_type":"gene"},{"created":"2020-07-27T19:54:17.327642+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KRT12 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT12","entity_type":"gene"},{"created":"2020-07-27T19:54:12.444701+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2790","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: LARS was added\ngene: LARS was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS were set to 32699352\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438\nPenetrance for gene: LARS were set to Complete\nReview for gene: LARS was set to GREEN\nAdded comment: Please consider inclusion with amber/green rating in the current panel.\r\n\r\nBiallelic pathogenic LARS1 variants cause Infantile liver failure syndrome 1, MIM# 615438.\r\n\r\nLenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families.\r\n\r\nSeizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation.\r\n\r\nIn addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities.\r\n\r\nThese patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few).\r\n\r\nThe gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs).\r\n\r\nPlease note that the HGNC approved symbol for this gene is LARS1. \nSources: Literature","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T19:52:13.386546+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.760","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: LARS was added\ngene: LARS was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: LARS was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: LARS were set to 32699352\nPhenotypes for gene: LARS were set to Infantile liver failure syndrome 1, MIM# 615438\nPenetrance for gene: LARS were set to Complete\nReview for gene: LARS was set to GREEN\nAdded comment: Please consider inclusion with amber/green rating in the current panel.\r\n\r\nBiallelic pathogenic LARS1 variants cause Infantile liver failure syndrome 1, MIM# 615438.\r\n\r\nLenz et al (2020 - PMID: 32699352) review the phenotype of 25 affected individuals from 15 families.\r\n\r\nSeizures occurred in 19/24 and were commonly associated with infections. Encephalopathic episodes (in 13 patients) accompanied by seizures up to status epilepticus occurred independently of hepatic decompensation.\r\n\r\nIn addition 22/24 presented with neurodevelopmental delay. The authors comment that cognitive impairment was present in 13/17 individuals (mild-severe) whereas most presented with learning disabilities.\r\n\r\nThese patients will most likely investigated for their liver disease (although presentation was highly variable and/or very mild in few).\r\n\r\nThe gene encodes a cytoplasmic amino-acyl tRNA synthetase (ARS) with neurologic manifestations observed in almost all patients (and seizures / DD and ID common to other disorders due to mutations in other genes encoding for ARSs).\r\n\r\nPlease note that the HGNC approved symbol for this gene is LARS1. \nSources: Literature","entity_name":"LARS","entity_type":"gene"},{"created":"2020-07-27T19:00:10.728844+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: VSX1 as ready","entity_name":"VSX1","entity_type":"gene"},{"created":"2020-07-27T19:00:10.717057+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: vsx1 has been classified as Green List (High Evidence).","entity_name":"VSX1","entity_type":"gene"},{"created":"2020-07-27T19:00:08.314506+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.28","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: VSX1 were changed from  to Keratoconus 1, MIM# 148300","entity_name":"VSX1","entity_type":"gene"},{"created":"2020-07-27T18:59:46.078651+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.27","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: VSX1 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VSX1","entity_type":"gene"},{"created":"2020-07-27T18:59:17.940326+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: VSX1: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: Keratoconus 1, MIM# 148300; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"VSX1","entity_type":"gene"},{"created":"2020-07-27T18:56:53.301000+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: STS as ready","entity_name":"STS","entity_type":"gene"},{"created":"2020-07-27T18:56:53.288890+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Green List (High Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2020-07-27T18:56:48.464740+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: STS as Green List (high evidence)","entity_name":"STS","entity_type":"gene"},{"created":"2020-07-27T18:56:48.456275+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.26","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: sts has been classified as Green List (High Evidence).","entity_name":"STS","entity_type":"gene"},{"created":"2020-07-27T18:56:25.735066+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.25","user_name":"Zornitza Stark","item_type":"entity","text":"gene: STS was added\ngene: STS was added to Corneal Dystrophy. Sources: Expert list\nMode of inheritance for gene: STS was set to X-LINKED: hemizygous mutation in males, biallelic mutations in females\nPhenotypes for gene: STS were set to Ichthyosis, X-linked, MIM#\t308100\nReview for gene: STS was set to GREEN\nAdded comment: Corneal opacities are part of the phenotype. \nSources: Expert list","entity_name":"STS","entity_type":"gene"},{"created":"2020-07-27T18:53:47.600444+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PITX2 as ready","entity_name":"PITX2","entity_type":"gene"},{"created":"2020-07-27T18:53:47.583256+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pitx2 has been classified as Red List (Low Evidence).","entity_name":"PITX2","entity_type":"gene"},{"created":"2020-07-27T18:53:43.388648+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.24","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PITX2 were changed from  to Anterior segment dysgenesis 4, MIM# 137600","entity_name":"PITX2","entity_type":"gene"},{"created":"2020-07-27T18:53:17.552163+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.23","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: PITX2 was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PITX2","entity_type":"gene"},{"created":"2020-07-27T18:52:57.237145+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PITX2 as Red List (low evidence)","entity_name":"PITX2","entity_type":"gene"},{"created":"2020-07-27T18:52:57.228727+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.22","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pitx2 has been classified as Red List (Low Evidence).","entity_name":"PITX2","entity_type":"gene"},{"created":"2020-07-27T18:52:34.348412+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: PITX2: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Anterior segment dysgenesis 4, MIM# 137600; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"PITX2","entity_type":"gene"},{"created":"2020-07-27T18:45:46.421195+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: MAF as ready","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:45:46.410676+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: maf has been classified as Red List (Low Evidence).","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:45:40.564571+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.21","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: MAF were changed from  to Cataract 21, multiple types, MIM# 610202","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:45:09.961004+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.20","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: MAF was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:44:46.095873+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAF as Red List (low evidence)","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:44:46.087368+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: maf has been classified as Red List (Low Evidence).","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:44:32.958561+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: MAF as Red List (low evidence)","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:44:32.916018+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.19","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: maf has been classified as Red List (Low Evidence).","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:40:06.958680+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: MAF: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: Cataract 21, multiple types, MIM# 610202; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"MAF","entity_type":"gene"},{"created":"2020-07-27T18:37:38.091439+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: LCAT as ready","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-27T18:37:38.080596+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcat has been classified as Green List (High Evidence).","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-27T18:37:34.105451+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: LCAT as Green List (high evidence)","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-27T18:37:34.095334+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.18","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: lcat has been classified as Green List (High Evidence).","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-27T18:37:06.799417+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.17","user_name":"Zornitza Stark","item_type":"entity","text":"gene: LCAT was added\ngene: LCAT was added to Corneal Dystrophy. Sources: Expert list\nMode of inheritance for gene: LCAT was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: LCAT were set to Norum disease, MIM#\t245900\nReview for gene: LCAT was set to GREEN\nAdded comment: Corneal opacities are part of the phenotype. \nSources: Expert list","entity_name":"LCAT","entity_type":"gene"},{"created":"2020-07-27T18:25:41.234111+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KERA as ready","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:25:41.224076+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kera has been classified as Green List (High Evidence).","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:25:32.283075+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3539","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: KERA were changed from  to Cornea plana 2, autosomal recessive, MIM# 217300","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:25:12.793468+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3538","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: KERA were set to ","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:24:33.318122+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3537","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: KERA was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:24:14.492521+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.3536","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KERA: Rating: GREEN; Mode of pathogenicity: None; Publications: 23834557, 11726611, 10802664; Phenotypes: Cornea plana 2, autosomal recessive, MIM# 217300; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:23:08.951210+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: KERA as ready","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:23:08.940041+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kera has been classified as Green List (High Evidence).","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:23:04.284523+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: KERA as Green List (high evidence)","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:23:04.276243+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.16","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: kera has been classified as Green List (High Evidence).","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:22:41.201469+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.15","user_name":"Zornitza Stark","item_type":"entity","text":"gene: KERA was added\ngene: KERA was added to Corneal Dystrophy. Sources: Expert list\nMode of inheritance for gene: KERA was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: KERA were set to 23834557; 11726611; 10802664\nPhenotypes for gene: KERA were set to Cornea plana 2, autosomal recessive, MIM#\t217300\nReview for gene: KERA was set to GREEN\nAdded comment: Cornea plana is clinically characterized by reduced corneal curvature leading in most cases to hyperopia, hazy corneal limbus, and arcus lipoides at an early age. CNA2 is a severe form of the disorder, which is frequently associated with additional ocular manifestations. \nSources: Expert list","entity_name":"KERA","entity_type":"gene"},{"created":"2020-07-27T18:19:53.826116+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: KRT12: Rating: GREEN; Mode of pathogenicity: None; Publications: 9171831, 22174841; Phenotypes: Meesmann corneal dystrophy 1, MIM# 122100; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"KRT12","entity_type":"gene"},{"created":"2020-07-27T18:17:57.250763+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GRHL2 as ready","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-07-27T18:17:57.241337+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grhl2 has been classified as Green List (High Evidence).","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-07-27T18:17:53.161941+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GRHL2 as Green List (high evidence)","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-07-27T18:17:53.151827+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.14","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: grhl2 has been classified as Green List (High Evidence).","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-07-27T18:17:28.883214+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"Tag deep intronic tag was added to gene: GRHL2.","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-07-27T18:17:13.431768+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.13","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GRHL2 was added\ngene: GRHL2 was added to Corneal Dystrophy. Sources: Expert list\nMode of inheritance for gene: GRHL2 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: GRHL2 were set to 29499165\nPhenotypes for gene: GRHL2 were set to Corneal dystrophy, posterior polymorphous, 4, MIM# 618031\nReview for gene: GRHL2 was set to GREEN\nAdded comment: PMID:29499165 - Three variants in the regulatory region of GRHL2 identified in 6 families. c.20+544G>T segregates in 19 affected over 4 generations and was identified in another 3 families in one case de novo. Two further intronic variants identified in two families c.20+257delT \nSources: Expert list","entity_name":"GRHL2","entity_type":"gene"},{"created":"2020-07-27T18:15:28.906461+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GSN as ready","entity_name":"GSN","entity_type":"gene"},{"created":"2020-07-27T18:15:28.896518+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gsn has been classified as Green List (High Evidence).","entity_name":"GSN","entity_type":"gene"},{"created":"2020-07-27T18:15:25.736284+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.12","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GSN were changed from  to Amyloidosis, Finnish type, MIM# 105120","entity_name":"GSN","entity_type":"gene"},{"created":"2020-07-27T18:15:03.140140+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.11","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GSN were set to ","entity_name":"GSN","entity_type":"gene"},{"created":"2020-07-27T18:14:42.994715+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.10","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GSN was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GSN","entity_type":"gene"},{"created":"2020-07-27T18:14:11.944345+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: GSN: Rating: GREEN; Mode of pathogenicity: None; Publications: 2176164; Phenotypes: Amyloidosis, Finnish type, MIM# 105120; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"GSN","entity_type":"gene"},{"created":"2020-07-27T18:11:14.981638+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: FOXE3 as ready","entity_name":"FOXE3","entity_type":"gene"},{"created":"2020-07-27T18:11:14.972224+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: foxe3 has been classified as Red List (Low Evidence).","entity_name":"FOXE3","entity_type":"gene"},{"created":"2020-07-27T18:11:12.113738+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.9","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: FOXE3 were changed from  to Anterior segment dysgenesis 2, multiple subtypes, MIM# 610256","entity_name":"FOXE3","entity_type":"gene"},{"created":"2020-07-27T18:10:49.127665+10:00","panel_name":"Corneal Dystrophy","panel_id":91,"panel_version":"0.8","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: FOXE3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"FOXE3","entity_type":"gene"}]}