{"count":221304,"next":"https://panelapp-aus.org/api/v1/activities/?format=json&page=579","previous":"https://panelapp-aus.org/api/v1/activities/?format=json&page=577","results":[{"created":"2023-07-24T14:32:19.338360+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5270","user_name":"Chirag Patel","item_type":"entity","text":"gene: GPATCH11 was added\ngene: GPATCH11 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay\nReview for gene: GPATCH11 was set to GREEN\ngene: GPATCH11 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues.\r\nGPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes).\r\nBiallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). \r\nMouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory \nSources: Other","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-24T14:31:16.879897+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.203","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GPATCH11 as Green List (high evidence)","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-24T14:31:16.869804+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.203","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gpatch11 has been classified as Green List (High Evidence).","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-24T14:31:11.856256+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.986","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: GPATCH11 as Green List (high evidence)","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-24T14:31:11.846084+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.986","user_name":"Chirag Patel","item_type":"entity","text":"Gene: gpatch11 has been classified as Green List (High Evidence).","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-24T14:30:50.424670+10:00","panel_name":"Syndromic Retinopathy","panel_id":3099,"panel_version":"0.202","user_name":"Chirag Patel","item_type":"entity","text":"gene: GPATCH11 was added\ngene: GPATCH11 was added to Syndromic Retinopathy. Sources: Other\nMode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay\nReview for gene: GPATCH11 was set to GREEN\ngene: GPATCH11 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues.\r\nGPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes).\r\nBiallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). \r\nMouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory \nSources: Other","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-24T14:30:11.505267+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.985","user_name":"Chirag Patel","item_type":"entity","text":"gene: GPATCH11 was added\ngene: GPATCH11 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: GPATCH11 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: GPATCH11 were set to Leber congenital amaurosis and developmental delay\nReview for gene: GPATCH11 was set to GREEN\ngene: GPATCH11 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n3 families with 8 individuals with leber congenital amaurosis, developmental delay, language disorder, and behavioural issues.\r\nGPATCH11 localises to nucleus and basal body of primary cilium (similar to other LCA genes).\r\nBiallelic variants found in GPATCH11 - 1 splice variant common to all 3 families (1 other variant in 3rd family). Splice variant leads to loss of exon 4 (mRNA studies). \r\nMouse models showed i) abnormal rod/cone responses on ERG; ii) decreased outer nuclear layer in retina, and iii) abnormal associate/episodic memory \nSources: Other","entity_name":"GPATCH11","entity_type":"gene"},{"created":"2023-07-24T14:12:25.348584+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1869","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNA3 as Green List (high evidence)","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:12:25.306673+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1869","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:12:01.917918+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1869","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNA3 as Green List (high evidence)","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:12:01.908482+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1869","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:11:35.749460+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5269","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNA3 as Green List (high evidence)","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:11:35.699818+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5269","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:11:33.974125+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1869","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNA3 as Green List (high evidence)","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:11:33.959069+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1869","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:10:29.477748+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5268","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNA3 as Green List (high evidence)","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:10:29.467687+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5268","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:10:28.174748+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.984","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNA3 as Green List (high evidence)","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:10:28.149890+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.984","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:10:18.054388+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.983","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: KCNA3 as Green List (high evidence)","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:10:18.041923+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.983","user_name":"Chirag Patel","item_type":"entity","text":"Gene: kcna3 has been classified as Green List (High Evidence).","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:08:43.479004+10:00","panel_name":"Genetic Epilepsy","panel_id":202,"panel_version":"0.1868","user_name":"Chirag Patel","item_type":"entity","text":"gene: KCNA3 was added\ngene: KCNA3 was added to Genetic Epilepsy. Sources: Other\nMode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA3 were set to Neurodevelopmental disorder with epilepsy\nReview for gene: KCNA3 was set to GREEN\ngene: KCNA3 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals with de novo missense variants in KCNA3 (K+ channel)\r\nVariable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change)\r\nPresentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) \nSources: Other","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:08:24.211941+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5267","user_name":"Chirag Patel","item_type":"entity","text":"gene: KCNA3 was added\ngene: KCNA3 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA3 were set to Neurodevelopmental disorder\nReview for gene: KCNA3 was set to GREEN\ngene: KCNA3 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals with de novo missense variants in KCNA3 (K+ channel)\r\nVariable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change)\r\nPresentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) \nSources: Other","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T14:08:14.948510+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.982","user_name":"Chirag Patel","item_type":"entity","text":"gene: KCNA3 was added\ngene: KCNA3 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: KCNA3 was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: KCNA3 were set to Neurodevelopmental disorder\nReview for gene: KCNA3 was set to GREEN\ngene: KCNA3 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n10 individuals with de novo missense variants in KCNA3 (K+ channel)\r\nVariable electrophysiology studies of effect of variants (5 x LOF, 4 x GOF, 1 no change)\r\nPresentation: abnormal speech development (8/8), ID (6/8), epilepsy (5/8), and ASD (7/8) \nSources: Other","entity_name":"KCNA3","entity_type":"gene"},{"created":"2023-07-24T13:42:10.068035+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5266","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FSD1L as Green List (high evidence)","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-24T13:42:10.059009+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5266","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fsd1l has been classified as Green List (High Evidence).","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-24T13:42:02.434673+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.981","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: FSD1L as Green List (high evidence)","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-24T13:42:02.422033+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.981","user_name":"Chirag Patel","item_type":"entity","text":"Gene: fsd1l has been classified as Green List (High Evidence).","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-24T13:41:44.834467+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.980","user_name":"Chirag Patel","item_type":"entity","text":"gene: FSD1L was added\ngene: FSD1L was added to Mendeliome. Sources: Other\nMode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FSD1L were set to Neurodevelopmental disorder\nReview for gene: FSD1L was set to GREEN\ngene: FSD1L was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n8 families with biallelic missense/nonsense variants\r\nPresentation only described 1 family/2 affecteds with DD, ID, spastic paraparesis, epilepsy, corpus callosum hypoplasia, and optic nerve hypoplasia\r\n\r\nFunctional assays:\r\n-reduced expression of FSD1L in mature neurons (RNA studies)\r\n-very low % mature neurons (neuronal differentiation)\r\n-reduced neuronal migration \nSources: Other","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-24T13:41:36.035042+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5265","user_name":"Chirag Patel","item_type":"entity","text":"gene: FSD1L was added\ngene: FSD1L was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: FSD1L was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: FSD1L were set to Neurodevelopmental disorder\nReview for gene: FSD1L was set to GREEN\ngene: FSD1L was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n8 families with biallelic missense/nonsense variants\r\nPresentation only described 1 family/2 affecteds with DD, ID, spastic paraparesis, epilepsy, corpus callosum hypoplasia, and optic nerve hypoplasia\r\n\r\nFunctional assays:\r\n-reduced expression of FSD1L in mature neurons (RNA studies)\r\n-very low % mature neurons (neuronal differentiation)\r\n-reduced neuronal migration \nSources: Other","entity_name":"FSD1L","entity_type":"gene"},{"created":"2023-07-24T13:13:32.999936+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5264","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DENND5B as Green List (high evidence)","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:13:32.983898+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5264","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dennd5b has been classified as Green List (High Evidence).","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:41.712984+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.292","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DENND5B as Green List (high evidence)","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:41.702955+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.292","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dennd5b has been classified as Green List (High Evidence).","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:35.742975+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DENND5B as Green List (high evidence)","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:35.735670+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.291","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dennd5b has been classified as Green List (High Evidence).","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:26.737614+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.979","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DENND5B as Green List (high evidence)","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:26.727029+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.979","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dennd5b has been classified as Green List (High Evidence).","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:17.802197+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5263","user_name":"Chirag Patel","item_type":"entity","text":"gene: DENND5B was added\ngene: DENND5B was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies\nReview for gene: DENND5B was set to GREEN\ngene: DENND5B was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice)\r\nDD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7)\r\n\r\nDENND5B acts as:\r\n-GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release\r\n-regulator of lipid absorption and homeostasis\r\n\r\nFunctional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution \nSources: Other","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:12:01.366228+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.978","user_name":"Chirag Patel","item_type":"entity","text":"gene: DENND5B was added\ngene: DENND5B was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies\nReview for gene: DENND5B was set to GREEN\ngene: DENND5B was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice)\r\nDD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7)\r\n\r\nDENND5B acts as:\r\n-GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release\r\n-regulator of lipid absorption and homeostasis\r\n\r\nFunctional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution \nSources: Other","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T13:11:53.330313+10:00","panel_name":"Leukodystrophy - paediatric","panel_id":298,"panel_version":"0.290","user_name":"Chirag Patel","item_type":"entity","text":"gene: DENND5B was added\ngene: DENND5B was added to Leukodystrophy - paediatric. Sources: Other\nMode of inheritance for gene: DENND5B was set to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted\nPhenotypes for gene: DENND5B were set to Neurodevelopmental disorder with white matter anomalies\nReview for gene: DENND5B was set to GREEN\ngene: DENND5B was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n7 patients/7 families with de novo DENND5B variants (6 missense, 1 splice)\r\nDD/ID (mod/profound)(7/7), white matter anomalies (6/7) hypotonia, epilepsy (3/7)\r\n\r\nDENND5B acts as:\r\n-GEF for activation of RAB proteins which are involved in membrane trafficking and neurotransmitter release\r\n-regulator of lipid absorption and homeostasis\r\n\r\nFunctional studies showed loss of expression of DENND5B in fibroblasts, abnormal vesicle trafficking, and impaired lipid uptake and intracellular distribution \nSources: Other","entity_name":"DENND5B","entity_type":"gene"},{"created":"2023-07-24T12:56:55.742269+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5262","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DMAP1 as Green List (high evidence)","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:56:55.732907+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5262","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dmap1 has been classified as Green List (High Evidence).","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:53:29.510892+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5261","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DMAP1 as Green List (high evidence)","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:53:29.502383+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5261","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dmap1 has been classified as Green List (High Evidence).","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:53:17.057136+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.977","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: DMAP1 as Green List (high evidence)","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:53:17.045493+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.977","user_name":"Chirag Patel","item_type":"entity","text":"Gene: dmap1 has been classified as Green List (High Evidence).","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:52:18.537950+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5260","user_name":"Chirag Patel","item_type":"entity","text":"gene: DMAP1 was added\ngene: DMAP1 was added to Intellectual disability syndromic and non-syndromic. Sources: Other\nMode of inheritance for gene: DMAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMAP1 were set to Neurodevelopmental disorder\nReview for gene: DMAP1 was set to GREEN\ngene: DMAP1 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 patients/8 families with bilallelic variants in DMAP1 (3 missense, 7 LOF)\r\nAll with DD, speech delay, hypotonia, and ID\r\nSome with epilepsy (4/6), FTT (4/5), and brain malformations (3/5)\r\nDrosophila showed abnormal behaviour pattern and bang sensitivity\r\nSpecific methylation episignature also seen \nSources: Other","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:51:59.948718+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.976","user_name":"Chirag Patel","item_type":"entity","text":"gene: DMAP1 was added\ngene: DMAP1 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: DMAP1 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: DMAP1 were set to Neurodevelopmental disorder\nReview for gene: DMAP1 was set to GREEN\ngene: DMAP1 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n9 patients/8 families with bilallelic variants in DMAP1 (3 missense, 7 LOF)\r\nAll with DD, speech delay, hypotonia, and ID\r\nSome with epilepsy (4/6), FTT (4/5), and brain malformations (3/5)\r\nDrosophila showed abnormal behaviour pattern and bang sensitivity\r\nSpecific methylation episignature also seen \nSources: Other","entity_name":"DMAP1","entity_type":"gene"},{"created":"2023-07-24T12:16:08.354326+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.7","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: VGLL2 as Green List (high evidence)","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-24T12:16:08.346414+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.7","user_name":"Chirag Patel","item_type":"entity","text":"Gene: vgll2 has been classified as Green List (High Evidence).","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-24T12:16:01.260918+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.975","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: VGLL2 as Green List (high evidence)","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-24T12:16:01.245022+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.975","user_name":"Chirag Patel","item_type":"entity","text":"Gene: vgll2 has been classified as Green List (High Evidence).","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-24T12:15:46.984212+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.974","user_name":"Chirag Patel","item_type":"entity","text":"gene: VGLL2 was added\ngene: VGLL2 was added to Mendeliome. Sources: Other\nMode of inheritance for gene: VGLL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VGLL2 were set to Syngnathia\nReview for gene: VGLL2 was set to GREEN\ngene: VGLL2 was marked as current diagnostic\nAdded comment: ESHG 2023:\r\n4 families/7 affected individuals with isolated unilateral/bilateral syngnathia\r\nbiallelic truncating variants in VGLL2\r\nBut not phenotype in KO mouse or zebrafish models \nSources: Other","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-24T12:15:23.940745+10:00","panel_name":"Mandibulofacial Acrofacial dysostosis","panel_id":136,"panel_version":"1.6","user_name":"Chirag Patel","item_type":"entity","text":"gene: VGLL2 was added\ngene: VGLL2 was added to Mandibulofacial Acrofacial dysostosis. Sources: Other\nMode of inheritance for gene: VGLL2 was set to BIALLELIC, autosomal or pseudoautosomal\nPhenotypes for gene: VGLL2 were set to Syngnathia\nReview for gene: VGLL2 was set to GREEN\nAdded comment: ESHG 2023:\r\n4 families/7 affected individuals with isolated unilateral/bilateral syngnathia\r\nbiallelic truncating variants in VGLL2\r\nBut not phenotype in KO mouse or zebrafish models \nSources: Other","entity_name":"VGLL2","entity_type":"gene"},{"created":"2023-07-24T12:00:41.681660+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZIC1 as Red List (low evidence)","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-24T12:00:41.677042+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Chirag Patel","item_type":"entity","text":"Added comment: Comment on list classification: No evidence of regression","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-24T12:00:41.655750+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zic1 has been classified as Red List (Low Evidence).","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-24T12:00:21.897028+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ZIC1 as Red List (low evidence)","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-24T12:00:21.878639+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Chirag Patel","item_type":"entity","text":"Added comment: Comment on list classification: No evidence of regression","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-24T12:00:21.802222+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.528","user_name":"Chirag Patel","item_type":"entity","text":"Gene: zic1 has been classified as Red List (Low Evidence).","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-24T11:59:44.739500+10:00","panel_name":"Regression","panel_id":206,"panel_version":"0.527","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ZIC1: Rating: RED; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: None","entity_name":"ZIC1","entity_type":"gene"},{"created":"2023-07-24T11:40:27.890004+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.973","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ITFG2 as Green List (high evidence)","entity_name":"ITFG2","entity_type":"gene"},{"created":"2023-07-24T11:40:27.878356+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.973","user_name":"Chirag Patel","item_type":"entity","text":"Gene: itfg2 has been classified as Green List (High Evidence).","entity_name":"ITFG2","entity_type":"gene"},{"created":"2023-07-24T11:40:08.106552+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.972","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ITFG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ITFG2","entity_type":"gene"},{"created":"2023-07-24T11:39:49.995315+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5259","user_name":"Chirag Patel","item_type":"entity","text":"Classified gene: ITFG2 as Green List (high evidence)","entity_name":"ITFG2","entity_type":"gene"},{"created":"2023-07-24T11:39:49.984208+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5259","user_name":"Chirag Patel","item_type":"entity","text":"Gene: itfg2 has been classified as Green List (High Evidence).","entity_name":"ITFG2","entity_type":"gene"},{"created":"2023-07-24T11:39:02.848255+10:00","panel_name":"Intellectual disability syndromic and non-syndromic","panel_id":250,"panel_version":"0.5258","user_name":"Chirag Patel","item_type":"entity","text":"reviewed gene: ITFG2: Rating: GREEN; Mode of pathogenicity: None; Publications: ; Phenotypes: ; Mode of inheritance: BIALLELIC, autosomal or pseudoautosomal; Current diagnostic: yes","entity_name":"ITFG2","entity_type":"gene"},{"created":"2023-07-24T10:45:15.431019+10:00","panel_name":"Mendeliome","panel_id":137,"panel_version":"1.972","user_name":"Ain Roesley","item_type":"entity","text":"reviewed gene: COL4A6: Rating: AMBER; Mode of pathogenicity: None; Publications: 33840813; Phenotypes: Deafness, X-linked 6 MIM#300914; Mode of inheritance: X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males); Current diagnostic: yes","entity_name":"COL4A6","entity_type":"gene"},{"created":"2023-07-21T18:57:22.840754+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PMM2 as ready","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-07-21T18:57:22.832508+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Red List (Low Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-07-21T18:57:17.337779+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PMM2 as Red List (low evidence)","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-07-21T18:57:17.326324+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.133","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pmm2 has been classified as Red List (Low Evidence).","entity_name":"PMM2","entity_type":"gene"},{"created":"2023-07-21T18:56:33.872166+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLP1 as ready","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-07-21T18:56:33.854352+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Green List (High Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-07-21T18:56:31.059242+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.132","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLP1 were changed from Pelizaeus-Merzbacher disease MIM#312080; Spastic paraplegia 2, X-linked MIM#312920 to Spastic paraplegia 2, X-linked MIM#312920","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-07-21T18:50:26.884091+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLP1 as Green List (high evidence)","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-07-21T18:50:26.873809+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.131","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: plp1 has been classified as Green List (High Evidence).","entity_name":"PLP1","entity_type":"gene"},{"created":"2023-07-21T18:49:31.407517+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PLA2G6 as ready","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-07-21T18:49:31.399541+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g6 has been classified as Green List (High Evidence).","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-07-21T18:49:28.548530+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.130","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PLA2G6 were changed from Infantile neuroaxonal dystrophy 1 MIM#256600; Neurodegeneration with brain iron accumulation 2B MIM#610217; Parkinson disease 14, autosomal recessive MIM#612953 to Neurodegeneration with brain iron accumulation 2B MIM#610217","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-07-21T18:48:46.434031+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PLA2G6 as Green List (high evidence)","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-07-21T18:48:46.422987+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.129","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pla2g6 has been classified as Green List (High Evidence).","entity_name":"PLA2G6","entity_type":"gene"},{"created":"2023-07-21T18:47:36.113906+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.128","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PIGA as ready","entity_name":"PIGA","entity_type":"gene"},{"created":"2023-07-21T18:47:36.102851+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.128","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2023-07-21T18:47:28.097167+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.128","user_name":"Zornitza Stark","item_type":"entity","text":"Phenotypes for gene: PIGA were changed from Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and hemochromatosis MIM#301072; Paroxysmal nocturnal hemoglobinuria, somatic MIM#300818 to Multiple congenital anomalies-hypotonia-seizures syndrome 2 MIM#300868; Neurodevelopmental disorder with epilepsy and haemochromatosis MIM#301072","entity_name":"PIGA","entity_type":"gene"},{"created":"2023-07-21T18:46:41.204410+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PIGA as Green List (high evidence)","entity_name":"PIGA","entity_type":"gene"},{"created":"2023-07-21T18:46:41.194009+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.127","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: piga has been classified as Green List (High Evidence).","entity_name":"PIGA","entity_type":"gene"},{"created":"2023-07-21T18:38:41.057680+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHX as ready","entity_name":"PDHX","entity_type":"gene"},{"created":"2023-07-21T18:38:41.046698+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhx has been classified as Green List (High Evidence).","entity_name":"PDHX","entity_type":"gene"},{"created":"2023-07-21T18:38:31.315863+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDHX as Green List (high evidence)","entity_name":"PDHX","entity_type":"gene"},{"created":"2023-07-21T18:38:31.308147+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.126","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdhx has been classified as Green List (High Evidence).","entity_name":"PDHX","entity_type":"gene"},{"created":"2023-07-21T18:37:53.070210+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Marked gene: PDHA1 as ready","entity_name":"PDHA1","entity_type":"gene"},{"created":"2023-07-21T18:37:53.060727+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdha1 has been classified as Green List (High Evidence).","entity_name":"PDHA1","entity_type":"gene"},{"created":"2023-07-21T18:33:40.515471+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PDHA1 as Green List (high evidence)","entity_name":"PDHA1","entity_type":"gene"},{"created":"2023-07-21T18:33:40.503911+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.125","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pdha1 has been classified as Green List (High Evidence).","entity_name":"PDHA1","entity_type":"gene"},{"created":"2023-07-21T18:32:48.218016+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.124","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PANK2 were set to PMID: 33098801","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-07-21T18:32:17.800858+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Classified gene: PANK2 as Green List (high evidence)","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-07-21T18:32:17.790598+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.123","user_name":"Zornitza Stark","item_type":"entity","text":"Gene: pank2 has been classified as Green List (High Evidence).","entity_name":"PANK2","entity_type":"gene"},{"created":"2023-07-21T18:31:23.929000+10:00","panel_name":"Cerebral Palsy","panel_id":73,"panel_version":"1.122","user_name":"Zornitza Stark","item_type":"entity","text":"Publications for gene: PAK3 were set to 25666757","entity_name":"PAK3","entity_type":"gene"}]}