{"count":221415,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1805","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=1803","results":[{"created":"2020-05-07T18:14:59.286155+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hexa has been classified as Green List (High Evidence).","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-07T18:14:54.015812+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: HEXA as Green List (high evidence)","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-07T18:14:54.003880+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.114","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: hexa has been classified as Green List (High Evidence).","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-07T18:14:45.175087+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.113","user_name":"Zornitza Stark","item_type":"entity","text":"gene: HEXA was added\ngene: HEXA was added to Leukodystrophy - paediatric. Sources: Expert list\nMode of inheritance for gene: HEXA was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: HEXA were set to Tay-Sachs disease, MIM#\t272800\nReview for gene: HEXA was set to GREEN\nAdded comment: Sources: Expert list","entity_name":"HEXA","entity_type":"gene"},{"created":"2020-05-07T17:06:08.066559+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.692","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"changed review comment from: Abnormality of movement\r\nAlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants.\r\n\r\nAffected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.\r\n\r\nVariable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants.\r\n\r\nYIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.\r\n\r\nYIF1B encodes an intracellular transmembrane protein.\r\n\r\nIt has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).\r\n\r\nAvailable mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas).\r\n\r\nFunctional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.\r\n\r\nPlease consider inclusion in other panels that may be relevant (e.g. microcephaly, etc). \nSources: Literature; to: AlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants.\r\n\r\nAffected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.\r\n\r\nVariable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants.\r\n\r\nYIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.\r\n\r\nYIF1B encodes an intracellular transmembrane protein.\r\n\r\nIt has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).\r\n\r\nAvailable mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas).\r\n\r\nFunctional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.\r\n\r\nPlease consider inclusion in other panels that may be relevant (e.g. microcephaly, etc). \r\nSources: Literature","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-05-07T17:01:07.689865+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.692","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: YIF1B was added\ngene: YIF1B was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nPenetrance for gene: YIF1B were set to Complete\nReview for gene: YIF1B was set to AMBER\nAdded comment: Abnormality of movement\r\nAlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants.\r\n\r\nAffected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3.\r\n\r\nVariable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants.\r\n\r\nYIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*.\r\n\r\nYIF1B encodes an intracellular transmembrane protein.\r\n\r\nIt has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).\r\n\r\nAvailable mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas).\r\n\r\nFunctional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function.\r\n\r\nPlease consider inclusion in other panels that may be relevant (e.g. microcephaly, etc). \nSources: Literature","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-05-07T16:58:13.047784+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2625","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: YIF1B was added\ngene: YIF1B was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: YIF1B was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: YIF1B were set to 32006098\nPhenotypes for gene: YIF1B were set to Central hypotonia; Failure to thrive; Microcephaly; Global developmental delay; Intellectual disability; Seizures; Spasticity; Abnormality of movement\nPenetrance for gene: YIF1B were set to Complete\nReview for gene: YIF1B was set to GREEN\nAdded comment: AlMuhaizea et al (2020 - PMID: 32006098) report on the phenotype of 6 individuals (from 5 families) with biallelic YIF1B truncating variants. \r\n\r\nAffected subjects presented hypotonia, failure to thrive, microcephaly (5/6), severe global DD and ID (as evident from best motor/language milestones achieved - Table S1) as well as features suggestive of a motor disorder (dystonia/spasticity/dyskinesia). Seizures were reported in 2 unrelated individuals (2/6). MRI abnormalities were observed in some with thin CC being a feature in 3. \r\n\r\nVariable initial investigations were performed including SNP CMA, MECP2, microcephaly / neurotransmitter disorders gene panel testing did not reveal P/LP variants. \r\n\r\nYIF1B variants were identified in 3 families within ROH. Following exome sequencing, affected individuals were found to be homozygous for truncating variants (4/5 families being consanguineous). The following 3 variants were identified (NM_001039672.2) : c.186dupT or p.Ala64fs / c.360_361insACAT or p.Gly121fs / c.598G>T or p.Glu200*. \r\n\r\nYIF1B encodes an intracellular transmembrane protein. \r\n\r\nIt has been previously demonstrated that - similarly to other proteins of the Yip family being implicated in intracellular traffic between the Golgi - Yif1B is involved in the anterograde traffic pathway. Yif1B KO mice demonstrate a disorganized Golgi architecture in pyramidal hippocampal neurons (Alterio et al 2015 - PMID: 26077767). The rat ortholog interacts with serotonin receptor 1 (5-HT1AR) with colocalization of Yif1BB and 5-HT1AR in intermediate compartment vesicles and involvement of the former in intracellular trafficing/modulation of 5-HT1AR transport to dendrites (PMID cited: 18685031).\r\n\r\nAvailable mRNA and protein expression data (Protein Atlas) suggest that the gene is widely expressed in all tissues incl. neuronal cells. Immunochemistry data from the Human Brain Atlas also suggest that YIF1B is found in vesicles and localized to the Golgi apparatus. Immunohistochemistry in normal human brain tissue (cerebral cortex) demonstrated labeling of neuronal cells (Human Protein Atlas). \r\n\r\nFunctional/network analysis of genes co-regulated with YIF1B based on available RNAseq data, suggest enrichement in in genes important for nervous system development and function. \r\n\r\nPlease consider inclusion in other panels that may be relevant (e.g. microcephaly, etc). \nSources: Literature","entity_name":"YIF1B","entity_type":"gene"},{"created":"2020-05-07T16:21:46.276407+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.692","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: SPTBN4 was added\ngene: SPTBN4 was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: SPTBN4 was set to BIALLELIC, autosomal or pseudoautosomal\nPublications for gene: SPTBN4 were set to 28540413; 28940097; 29861105; 31230720; 31857255\nPhenotypes for gene: SPTBN4 were set to Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519\nPenetrance for gene: SPTBN4 were set to Complete\nReview for gene: SPTBN4 was set to GREEN\nAdded comment: Biallelic pathogenic SPTBN4 variants cause Neurodevelopmental disorder with hypotonia, neuropathy, and deafness (MIM #617519).\r\n\r\nThere are several reports on the phenotype of relevant affected individuals with severe/profound DD/ID in at least 9 individuals :\r\n\r\n- Knierim et al (2017 - PMID: 28540413) [1 affected individual] \r\n- Anazi et al (2017 - PMID: 28940097) [1]\r\n- Wang et al (2018 - PMID: 29861105) [6]\r\n- Pehlivan et al (2019 - PMID: 31230720) [1]\r\n\r\nA recent article by Häusler et al (2019 - PMID: 31857255) describes the phenotype of 2 sibs, both presenting with motor and speech delay, although the older one had reportedly 'normal' cognitive performance allowing attendance of regular school at the age of 6 years.\r\n\r\nFeatures include congenital hypotonia, severe DD and ID (in most as outlined above, ID was the primary indication for testing on several occasions), poor or absent reflexes and weakness secondary to axonal motor neuropathy, feeding and respiratory difficulties, hearing and visual impairment. Seizures have been reported in at least 4 unrelated individuals (3 by Wang et al / 1 by Pehlivan et al). \r\n\r\nVariants in most cases were nonsense/frameshift although biallelic missense variants have also been reported. Sibs in the report by Häusler et al harbored a homozygous splicing variant. \r\n\r\nSPTBN4 encodes a member of the beta-spectrin protein family that is expressed in the brain, peripheral nervous system, pancreas, and skeletal muscle. \r\n\r\nβIV spectrin links ankyrinG and clustered ion channels (at axon initial segments and nodes of Ranvier) to the axonal cytoskeleton. Pathogenic variants are proposed to disrupt the cytoskeletal machinery controlling proper localization of ion channels and function of axonal domains where ion channels are normally clustered in high density. Among the evidence provided : nerve biopsies from an affected individual displayed reduced nodal Na+ channels and no nodal KCNQ2 K+ channels / Loss of AnkyrinG and βIV spectrin in animal model resulted in loss of KCNQ2- and KCNQ3- subunit containing K+ channels.\r\n\r\nApart from the ID / epilepsy panels please consider inclusion in other relevant ones. \nSources: Literature","entity_name":"SPTBN4","entity_type":"gene"},{"created":"2020-05-07T16:19:53.080773+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2625","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"reviewed gene: SPTBN4: Rating: GREEN; Mode of pathogenicity: None; Publications: 28540413, 28940097, 29861105, 31230720, 31857255; Phenotypes: Neurodevelopmental disorder with hypotonia, neuropathy, and deafness MIM#617519; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"SPTBN4","entity_type":"gene"},{"created":"2020-05-07T11:29:40.883681+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2763","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNRC6B were changed from  to Global developmental delay; Intellectual disability; Autistic behavior","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:29:20.336264+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2762","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNRC6B were set to ","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:29:03.306023+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2761","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNRC6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:28:44.484442+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNRC6B as Green List (high evidence)","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:28:44.475743+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2760","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnrc6b has been classified as Green List (High Evidence).","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:28:23.431700+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2759","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNRC6B: Added comment: 17 unrelated individuals with heterozygous TNRC6B variants reported. Features included hypotonia (10/17), DD/ID (17/17 - ID was not universal: average IQ of 12 individuals was 73 (range : 50-113) with 4 having below 70), ADHD (11/17), ASD or autistic traits (8/17 and 5/17). Some/few presented with abnormal OFC (micro- / macrocephaly in 3/17 and 2/17), abnormal vision or hearing, variable other congenital anomalies, echocardiographic, GI or renal abnormalities, etc. Epilepsy was reported in 1/17. There was no recognisable gestalt.Detected variants included 14 pLoF, 1 missense SNV and 2 intragenic deletions. Variants had occurred as de novo events in 10/13 subjects for whom testing of both parents was possible. 3/13 subjects had inherited the variant from a parent with milder phenotype. Based on the type of variants identified, the pLI score of 1 in gnomAD and the HI index of 5.61%, the authors suggest haploinsufficiency as the most likely mechanism. Individuals with de novo TNRC6B variants have also been reported in larger cohorts (e.g. DDD study - PMID: 28135719, Iossifov et al - PMID: 25363768, Lelieveld et al - PMID: 27479843, Jónsson et al - PMID: 28959963). A previous study provided details on 2 sibs harboring a translocation which disrupted both TNRC6B and TCF20 (also associated with ID)(Babbs et al - PMID: 25228304).; Changed rating: GREEN; Changed publications: 32152250, 28135719, 25363768, 27479843, 28959963, 25228304; Changed phenotypes: Global developmental delay, Intellectual disability, Autistic behavior; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:27:24.064657+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.90","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNRC6B were changed from  to Global developmental delay; Intellectual disability; Autistic behavior","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:26:56.261679+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.89","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNRC6B were set to ","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:26:31.740423+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.88","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNRC6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:26:04.589871+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNRC6B as Green List (high evidence)","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:26:04.579616+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.87","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnrc6b has been classified as Green List (High Evidence).","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:25:35.629169+10:00","panel_name":"Autism","panel_id":51,"panel_version":"0.86","user_name":"Zornitza Stark","item_type":"entity","text":"edited their review of gene: TNRC6B: Added comment: 17 unrelated individuals with heterozygous TNRC6B variants reported. Features included hypotonia (10/17), DD/ID (17/17 - ID was not universal: average IQ of 12 individuals was 73 (range : 50-113) with 4 having below 70), ADHD (11/17), ASD or autistic traits (8/17 and 5/17). Some/few presented with abnormal OFC (micro- / macrocephaly in 3/17 and 2/17), abnormal vision or hearing, variable other congenital anomalies, echocardiographic, GI or renal abnormalities, etc. Epilepsy was reported in 1/17. There was no recognisable gestalt.Detected variants included 14 pLoF, 1 missense SNV and 2 intragenic deletions. Variants had occurred as de novo events in 10/13 subjects for whom testing of both parents was possible. 3/13 subjects had inherited the variant from a parent with milder phenotype. Based on the type of variants identified, the pLI score of 1 in gnomAD and the HI index of 5.61%, the authors suggest haploinsufficiency as the most likely mechanism.  Individuals with de novo TNRC6B variants have also been reported in larger cohorts (e.g. DDD study - PMID: 28135719, Iossifov et al - PMID: 25363768, Lelieveld et al - PMID: 27479843, Jónsson et al - PMID: 28959963). A previous study provided details on 2 sibs harboring a translocation which disrupted both TNRC6B and TCF20 (also associated with ID)(Babbs et al - PMID: 25228304).; Changed rating: GREEN; Changed publications: 32152250, 28135719, 25363768, 27479843, 28959963, 25228304; Changed phenotypes: Global developmental delay, Intellectual disability, Autistic behavior; Changed mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:22:47.831044+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2625","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: TNRC6B were changed from  to Global developmental delay; Intellectual disability; Autistic behavior","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:22:05.277063+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2624","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: TNRC6B were set to ","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:21:28.392119+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2623","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: TNRC6B was changed from Unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:20:56.877656+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2622","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: TNRC6B as Green List (high evidence)","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:20:56.863415+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2622","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: tnrc6b has been classified as Green List (High Evidence).","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T11:19:32.629768+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2759","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC42BPB as ready","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:19:32.615463+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2759","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc42bpb has been classified as Green List (High Evidence).","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:19:22.766265+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2759","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC42BPB as Green List (high evidence)","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:19:22.756519+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2759","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc42bpb has been classified as Green List (High Evidence).","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:19:04.854151+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2758","user_name":"Zornitza Stark","item_type":"entity","text":"gene: CDC42BPB was added\ngene: CDC42BPB was added to Mendeliome. Sources: Literature\nMode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPublications for gene: CDC42BPB were set to 32031333\nPhenotypes for gene: CDC42BPB were set to Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality\nReview for gene: CDC42BPB was set to GREEN\nAdded comment: 14 individuals with missense and loss-of-function CDC42BPB variants reported. Features included hypotonia (8/11), DD (12/13 - the 14th was a fetus), ID (7/13), ASD (8/12), clinical seizures (in 3 - a 4th had abnormal EEG without seizures), behavioral abnormalities. Variable non-specific dysmorphic features were reported in some (sparse hair being the most frequent - 4/8). Additional features were observed in few (=<4) incl. cryptorchidism, ophthalmological issues, constipation, kidney abnormalities, micropenis, etc. Most variants occurred as de novo events (11/14) while inheritance was not available for few (3/14). \nSources: Literature","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:16:24.770340+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.692","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC42BPB as ready","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:16:24.764192+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.692","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Primarily an ID gene, remains to be seen whether seizures are a prominent part of the phenotype.","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:16:24.717037+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.692","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc42bpb has been classified as Amber List (Moderate Evidence).","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:15:44.533091+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.692","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDC42BPB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:15:11.042451+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.691","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC42BPB as Amber List (moderate evidence)","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:15:11.033636+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.691","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc42bpb has been classified as Amber List (Moderate Evidence).","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:14:49.657908+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.691","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC42BPB as Green List (high evidence)","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:14:49.636563+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.691","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc42bpb has been classified as Green List (High Evidence).","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:11:27.127656+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2621","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: CDC42BPB as ready","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:11:27.115723+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2621","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc42bpb has been classified as Green List (High Evidence).","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:11:22.175349+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2621","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: CDC42BPB was changed from MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:10:49.913107+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2620","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: CDC42BPB as Green List (high evidence)","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T11:10:49.899750+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2620","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: cdc42bpb has been classified as Green List (High Evidence).","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T01:35:02.493921+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2619","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"reviewed gene: TNRC6B: Rating: GREEN; Mode of pathogenicity: None; Publications: 32152250, 28135719, 25363768, 27479843, 28959963, 25228304; Phenotypes: Global developmental delay, Intellectual disability, Autistic behavior; Mode of inheritance: MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown","entity_name":"TNRC6B","entity_type":"gene"},{"created":"2020-05-07T01:16:41.645126+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.690","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: CDC42BPB was added\ngene: CDC42BPB was added to Genetic Epilepsy. Sources: Literature\nMode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CDC42BPB were set to 32031333\nPhenotypes for gene: CDC42BPB were set to Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality\nPenetrance for gene: CDC42BPB were set to unknown\nReview for gene: CDC42BPB was set to AMBER\nAdded comment: Chilton et al (2020 - PMID: 32031333) report on 14 individuals with missense and loss-of-function CDC42BPB variants.\r\n\r\nFeatures included hypotonia (8/11), DD (12/13 - the 14th was a fetus), ID (7/13), ASD (8/12), clinical seizures (in 3 - a 4th had abnormal EEG without seizures), behavioral abnormalities. Variable non-specific dysmorphic features were reported in some (sparse hair being the most frequent - 4/8). Additional features were observed in few (=<4) incl. cryptorchidism, ophthalmological issues, constipation, kidney abnormalities, micropenis, etc.\r\n\r\nAll individuals had non-diagnostic prior genetic testing (incl. CMA, FMR1, MECP2, Angelman/Prader-Willi methylation studies, autism gene panel - suggesting relevance to the current panel) or metabolic testing.\r\n\r\nVariants were identified following clinical exome sequencing with Sanger confirmation. Most occurred as de novo events (11/14) while inheritance was not available for few (3/14). Missense variants did not display (particular) clustering.\r\n\r\nAlmost all variants were absent from gnomAD and were predicted to be deleterious in silico (among others almost all had CADD scores >25).\r\n\r\nAs the authors comment, CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase β (MRCKβ) a serine/threonine protein kinase playing a role in regulation of cytoskeletal reorganization and cell migration in nonmuscle cells (through phosporylation of MLC2).\r\n\r\nPrevious studies have demonstrated that it is ubiquitously expressed with prenatal brain expression.\r\n\r\nThe gene appears to be intolerant to pLoF (pLI of 1) as well as to missense variants (Z-score of 3.66).\r\n\r\nCDC42BPB is a downstream effector of CDC42. Mutations of the latter cause Takenouchi-Kosaki syndrome with DD/ID and some further overlapping features (with CDC42BPB-associated phenotypes).\r\n\r\nHomozygous Cdc42bpb KO in mouse appears to be nonviable (MGI:2136459). Loss of gek in the eyes of Drosophila results in disrupted growth cone targeting to the lamina (gek is the fly CDC42BPB ortholog). \nSources: Literature","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-07T01:12:21.587809+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.2619","user_name":"Konstantinos Varvagiannis","item_type":"entity","text":"gene: CDC42BPB was added\ngene: CDC42BPB was added to Intellectual disability syndromic and non-syndromic. Sources: Literature\nMode of inheritance for gene: CDC42BPB was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown\nPublications for gene: CDC42BPB were set to 32031333\nPhenotypes for gene: CDC42BPB were set to Central hypotonia; Global developmental delay; Intellectual disability; Seizures; Autistic behavior; Behavioral abnormality\nPenetrance for gene: CDC42BPB were set to unknown\nReview for gene: CDC42BPB was set to GREEN\nAdded comment: Chilton et al (2020 - PMID: 32031333) report on 14 individuals with missense and loss-of-function CDC42BPB variants. \r\n\r\nFeatures included hypotonia (8/11), DD (12/13 - the 14th was a fetus), ID (7/13), ASD (8/12), clinical seizures (in 3 - a 4th had abnormal EEG without seizures), behavioral abnormalities. Variable non-specific dysmorphic features were reported in some (sparse hair being the most frequent - 4/8). Additional features were observed in few (=<4) incl. cryptorchidism, ophthalmological issues, constipation, kidney abnormalities, micropenis, etc.\r\n\r\nAll individuals had non-diagnostic prior genetic testing (incl. CMA, FMR1, MECP2, Angelman/Prader-Willi methylation studies, autism gene panel - suggesting relevance to the current panel) or metabolic testing. \r\n\r\nVariants were identified following clinical exome sequencing with Sanger confirmation. Most occurred as de novo events (11/14) while inheritance was not available for few (3/14). Missense variants did not display (particular) clustering.\r\n\r\nAlmost all variants were absent from gnomAD and were predicted to be deleterious in silico (among others almost all had CADD scores >25).\r\n\r\nAs the authors comment, CDC42BPB encodes myotonic dystrophy-related Cdc42-binding kinase β (MRCKβ) a serine/threonine protein kinase playing a role in regulation of cytoskeletal reorganization and cell migration in nonmuscle cells (through phosporylation of MLC2). \r\n\r\nPrevious studies have demonstrated that it is ubiquitously expressed with prenatal brain expression.\r\n\r\nThe gene appears to be intolerant to pLoF (pLI of 1) as well as to missense variants (Z-score of 3.66).\r\n\r\nCDC42BPB is a downstream effector of CDC42. Mutations of the latter cause Takenouchi-Kosaki syndrome with DD/ID and some further overlapping features (with CDC42BPB-associated phenotypes).\r\n\r\nHomozygous Cdc42bpb KO in mouse appears to be nonviable (MGI:2136459). Loss of gek in the eyes of Drosophila results in disrupted growth cone targeting to the lamina (gek is the fly CDC42BPB ortholog).\r\n\r\nPlease consider inclusion with amber / green rating in the ID panel (>=4 relevant individuals / variants) and other panels (e.g. for epilepsy, ASD). \nSources: Literature","entity_name":"CDC42BPB","entity_type":"gene"},{"created":"2020-05-06T21:12:33.613418+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ACVR2B as ready","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2020-05-06T21:12:33.599181+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: acvr2b has been classified as Red List (Low Evidence).","entity_name":"ACVR2B","entity_type":"gene"},{"created":"2020-05-06T21:12:05.056809+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: ARMC4 as ready","entity_name":"ARMC4","entity_type":"gene"},{"created":"2020-05-06T21:12:05.047956+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: armc4 has been classified as Green List (High Evidence).","entity_name":"ARMC4","entity_type":"gene"},{"created":"2020-05-06T21:11:36.281139+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH3 as ready","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-06T21:11:36.267683+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph3 has been classified as Green List (High Evidence).","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-06T21:11:31.039505+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.68","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH3 were changed from Ciliary dyskinesia, primary, 32 (MIM#616481) to Ciliary dyskinesia, primary, 32 (MIM#616481)","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-06T21:11:00.189721+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF1 as ready","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:11:00.178478+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf1 has been classified as Green List (High Evidence).","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:10:55.365184+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF1 as Green List (high evidence)","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:10:55.352994+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.36","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf1 has been classified as Green List (High Evidence).","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:10:24.815940+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.35","user_name":"Zornitza Stark","item_type":"entity","text":"gene: GDF1 was added\ngene: GDF1 was added to Heterotaxy. Sources: Expert list\nMode of inheritance for gene: GDF1 was set to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal\nPublications for gene: GDF1 were set to 32144877\nPhenotypes for gene: GDF1 were set to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530\nReview for gene: GDF1 was set to GREEN\nAdded comment: PMID: 32144877 - founder PTC in Arab population causing congenital heart detects AND right isomerism in 3 (unrelated?) families. Reviews other publications and reports additional chet (two PTC) or homozygous (missense) families with situs inversus and/or heart defects. No apparent genotype-phenotype correlation btw dominant and recessive disease. \nSources: Expert list","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:09:01.280572+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: GDF1 as ready","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:09:01.274634+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Added comment: Comment when marking as ready: Agree, this gene belongs on the Heterotaxy panel.","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:09:01.231884+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf1 has been classified as Red List (Low Evidence).","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:08:34.398442+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF1 were changed from Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530 to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:08:14.435742+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.131","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: GDF1 were changed from  to Congenital heart defects, multiple types, 6 613854; Right atrial isomerism (Ivemark) 208530","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:08:04.579594+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.67","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH3 were changed from  to Ciliary dyskinesia, primary, 32 (MIM#616481)","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-06T21:07:11.335704+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.66","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH3 were set to ","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-06T21:06:52.448544+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.130","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: GDF1 were set to ","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:06:19.094839+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.129","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: GDF1 was changed from Unknown to BOTH monoallelic and biallelic (but BIALLELIC mutations cause a more SEVERE disease form), autosomal or pseudoautosomal","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:06:10.873840+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.65","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH3 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH3","entity_type":"gene"},{"created":"2020-05-06T21:05:01.676178+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: GDF1 as Red List (low evidence)","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:05:01.665643+10:00","panel_name":"Ciliopathies","panel_id":84,"panel_version":"0.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: gdf1 has been classified as Red List (Low Evidence).","entity_name":"GDF1","entity_type":"gene"},{"created":"2020-05-06T21:04:56.066272+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: RSPH4A as ready","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-06T21:04:56.055327+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: rsph4a has been classified as Green List (High Evidence).","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-06T21:04:20.235104+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.64","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: RSPH4A were changed from  to Ciliary dyskinesia, primary, 11 (MIM#612649)","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-06T21:03:23.786712+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH4A were set to 25789548; 22448264","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-06T21:03:03.467321+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.63","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: RSPH4A were set to ","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-06T21:01:44.865071+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.62","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: RSPH4A was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"RSPH4A","entity_type":"gene"},{"created":"2020-05-06T21:00:22.684304+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2757","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJB13 as ready","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T21:00:22.670581+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2757","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T21:00:10.345914+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2757","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJB13 were changed from  to Ciliary dyskinesia, primary, 34, MIM# 617091","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:59:42.836279+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2756","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJB13 were set to ","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:59:21.322394+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2755","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJB13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:58:58.052703+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2754","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJB13 as Amber List (moderate evidence)","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:58:58.041300+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2754","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:58:33.334730+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"0.2753","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJB13: Rating: AMBER; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34, MIM# 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:57:14.470482+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJB13 as ready","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:57:14.456769+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Red List (Low Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:57:10.512282+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.34","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAJB13 were changed from  to Ciliary dyskinesia, primary, 34, MIM# 617091","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:56:06.084585+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.33","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: DNAJB13 were set to ","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:55:41.848276+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.32","user_name":"Zornitza Stark","item_type":"entity","text":"Mode of inheritance for gene: DNAJB13 was changed from Unknown to BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:55:19.010590+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJB13 as Red List (low evidence)","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:55:19.001182+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.31","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Red List (Low Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:54:35.042807+10:00","panel_name":"Heterotaxy","panel_id":108,"panel_version":"0.30","user_name":"Zornitza Stark","item_type":"entity","text":"reviewed gene: DNAJB13: Rating: RED; Mode of pathogenicity: None; Publications: 27486783; Phenotypes: Ciliary dyskinesia, primary, 34 617091; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:53:15.775393+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAJB13 as ready","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:53:15.763180+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:52:27.877353+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: DNAJB13 as Amber List (moderate evidence)","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:52:27.868411+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.61","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnajb13 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAJB13","entity_type":"gene"},{"created":"2020-05-06T20:51:27.756040+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: DNAH1 as ready","entity_name":"DNAH1","entity_type":"gene"},{"created":"2020-05-06T20:51:27.746014+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: dnah1 has been classified as Amber List (Moderate Evidence).","entity_name":"DNAH1","entity_type":"gene"},{"created":"2020-05-06T20:51:24.994972+10:00","panel_name":"Ciliary Dyskinesia","panel_id":82,"panel_version":"0.60","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: DNAH1 were changed from  to ?Ciliary dyskinesia, primary, 37 617577; Spermatogenic failure 18 617576","entity_name":"DNAH1","entity_type":"gene"}]}